TY - JOUR
T1 - Gene-age interactions in blood pressure regulation: a large-scale investigation with the CHARGE, Global BPgen, and ICBP Consortia.
JF - Am J Hum Genet
Y1 - 2014
A1 - Simino, Jeannette
A1 - Shi, Gang
A1 - Bis, Joshua C
A1 - Chasman, Daniel I
A1 - Ehret, Georg B
A1 - Gu, Xiangjun
A1 - Guo, Xiuqing
A1 - Hwang, Shih-Jen
A1 - Sijbrands, Eric
A1 - Smith, Albert V
A1 - Verwoert, Germaine C
A1 - Bragg-Gresham, Jennifer L
A1 - Cadby, Gemma
A1 - Chen, Peng
A1 - Cheng, Ching-Yu
A1 - Corre, Tanguy
A1 - de Boer, Rudolf A
A1 - Goel, Anuj
A1 - Johnson, Toby
A1 - Khor, Chiea-Chuen
A1 - Lluís-Ganella, Carla
A1 - Luan, Jian'an
A1 - Lyytikäinen, Leo-Pekka
A1 - Nolte, Ilja M
A1 - Sim, Xueling
A1 - Sõber, Siim
A1 - van der Most, Peter J
A1 - Verweij, Niek
A1 - Zhao, Jing Hua
A1 - Amin, Najaf
A1 - Boerwinkle, Eric
A1 - Bouchard, Claude
A1 - Dehghan, Abbas
A1 - Eiriksdottir, Gudny
A1 - Elosua, Roberto
A1 - Franco, Oscar H
A1 - Gieger, Christian
A1 - Harris, Tamara B
A1 - Hercberg, Serge
A1 - Hofman, Albert
A1 - James, Alan L
A1 - Johnson, Andrew D
A1 - Kähönen, Mika
A1 - Khaw, Kay-Tee
A1 - Kutalik, Zoltán
A1 - Larson, Martin G
A1 - Launer, Lenore J
A1 - Li, Guo
A1 - Liu, Jianjun
A1 - Liu, Kiang
A1 - Morrison, Alanna C
A1 - Navis, Gerjan
A1 - Ong, Rick Twee-Hee
A1 - Papanicolau, George J
A1 - Penninx, Brenda W
A1 - Psaty, Bruce M
A1 - Raffel, Leslie J
A1 - Raitakari, Olli T
A1 - Rice, Kenneth
A1 - Rivadeneira, Fernando
A1 - Rose, Lynda M
A1 - Sanna, Serena
A1 - Scott, Robert A
A1 - Siscovick, David S
A1 - Stolk, Ronald P
A1 - Uitterlinden, André G
A1 - Vaidya, Dhananjay
A1 - van der Klauw, Melanie M
A1 - Vasan, Ramachandran S
A1 - Vithana, Eranga Nishanthie
A1 - Völker, Uwe
A1 - Völzke, Henry
A1 - Watkins, Hugh
A1 - Young, Terri L
A1 - Aung, Tin
A1 - Bochud, Murielle
A1 - Farrall, Martin
A1 - Hartman, Catharina A
A1 - Laan, Maris
A1 - Lakatta, Edward G
A1 - Lehtimäki, Terho
A1 - Loos, Ruth J F
A1 - Lucas, Gavin
A1 - Meneton, Pierre
A1 - Palmer, Lyle J
A1 - Rettig, Rainer
A1 - Snieder, Harold
A1 - Tai, E Shyong
A1 - Teo, Yik-Ying
A1 - van der Harst, Pim
A1 - Wareham, Nicholas J
A1 - Wijmenga, Cisca
A1 - Wong, Tien Yin
A1 - Fornage, Myriam
A1 - Gudnason, Vilmundur
A1 - Levy, Daniel
A1 - Palmas, Walter
A1 - Ridker, Paul M
A1 - Rotter, Jerome I
A1 - van Duijn, Cornelia M
A1 - Witteman, Jacqueline C M
A1 - Chakravarti, Aravinda
A1 - Rao, Dabeeru C
KW - Adolescent
KW - Adult
KW - Age Factors
KW - Aged
KW - Blood Pressure
KW - Cohort Studies
KW - Humans
KW - Middle Aged
KW - Young Adult
AB -
Although age-dependent effects on blood pressure (BP) have been reported, they have not been systematically investigated in large-scale genome-wide association studies (GWASs). We leveraged the infrastructure of three well-established consortia (CHARGE, GBPgen, and ICBP) and a nonstandard approach (age stratification and metaregression) to conduct a genome-wide search of common variants with age-dependent effects on systolic (SBP), diastolic (DBP), mean arterial (MAP), and pulse (PP) pressure. In a two-staged design using 99,241 individuals of European ancestry, we identified 20 genome-wide significant (p ≤ 5 × 10(-8)) loci by using joint tests of the SNP main effect and SNP-age interaction. Nine of the significant loci demonstrated nominal evidence of age-dependent effects on BP by tests of the interactions alone. Index SNPs in the EHBP1L1 (DBP and MAP), CASZ1 (SBP and MAP), and GOSR2 (PP) loci exhibited the largest age interactions, with opposite directions of effect in the young versus the old. The changes in the genetic effects over time were small but nonnegligible (up to 1.58 mm Hg over 60 years). The EHBP1L1 locus was discovered through gene-age interactions only in whites but had DBP main effects replicated (p = 8.3 × 10(-4)) in 8,682 Asians from Singapore, indicating potential interethnic heterogeneity. A secondary analysis revealed 22 loci with evidence of age-specific effects (e.g., only in 20 to 29-year-olds). Age can be used to select samples with larger genetic effect sizes and more homogenous phenotypes, which may increase statistical power. Age-dependent effects identified through novel statistical approaches can provide insight into the biology and temporal regulation underlying BP associations.
VL - 95
IS - 1
U1 - http://www.ncbi.nlm.nih.gov/pubmed/24954895?dopt=Abstract
ER -
TY - JOUR
T1 - A principal component meta-analysis on multiple anthropometric traits identifies novel loci for body shape.
JF - Nat Commun
Y1 - 2016
A1 - Ried, Janina S
A1 - Jeff M, Janina
A1 - Chu, Audrey Y
A1 - Bragg-Gresham, Jennifer L
A1 - van Dongen, Jenny
A1 - Huffman, Jennifer E
A1 - Ahluwalia, Tarunveer S
A1 - Cadby, Gemma
A1 - Eklund, Niina
A1 - Eriksson, Joel
A1 - Esko, Tõnu
A1 - Feitosa, Mary F
A1 - Goel, Anuj
A1 - Gorski, Mathias
A1 - Hayward, Caroline
A1 - Heard-Costa, Nancy L
A1 - Jackson, Anne U
A1 - Jokinen, Eero
A1 - Kanoni, Stavroula
A1 - Kristiansson, Kati
A1 - Kutalik, Zoltán
A1 - Lahti, Jari
A1 - Luan, Jian'an
A1 - Mägi, Reedik
A1 - Mahajan, Anubha
A1 - Mangino, Massimo
A1 - Medina-Gómez, Carolina
A1 - Monda, Keri L
A1 - Nolte, Ilja M
A1 - Perusse, Louis
A1 - Prokopenko, Inga
A1 - Qi, Lu
A1 - Rose, Lynda M
A1 - Salvi, Erika
A1 - Smith, Megan T
A1 - Snieder, Harold
A1 - Stančáková, Alena
A1 - Ju Sung, Yun
A1 - Tachmazidou, Ioanna
A1 - Teumer, Alexander
A1 - Thorleifsson, Gudmar
A1 - van der Harst, Pim
A1 - Walker, Ryan W
A1 - Wang, Sophie R
A1 - Wild, Sarah H
A1 - Willems, Sara M
A1 - Wong, Andrew
A1 - Zhang, Weihua
A1 - Albrecht, Eva
A1 - Couto Alves, Alexessander
A1 - Bakker, Stephan J L
A1 - Barlassina, Cristina
A1 - Bartz, Traci M
A1 - Beilby, John
A1 - Bellis, Claire
A1 - Bergman, Richard N
A1 - Bergmann, Sven
A1 - Blangero, John
A1 - Blüher, Matthias
A1 - Boerwinkle, Eric
A1 - Bonnycastle, Lori L
A1 - Bornstein, Stefan R
A1 - Bruinenberg, Marcel
A1 - Campbell, Harry
A1 - Chen, Yii-Der Ida
A1 - Chiang, Charleston W K
A1 - Chines, Peter S
A1 - Collins, Francis S
A1 - Cucca, Fracensco
A1 - Cupples, L Adrienne
A1 - D'Avila, Francesca
A1 - de Geus, Eco J C
A1 - Dedoussis, George
A1 - Dimitriou, Maria
A1 - Döring, Angela
A1 - Eriksson, Johan G
A1 - Farmaki, Aliki-Eleni
A1 - Farrall, Martin
A1 - Ferreira, Teresa
A1 - Fischer, Krista
A1 - Forouhi, Nita G
A1 - Friedrich, Nele
A1 - Gjesing, Anette Prior
A1 - Glorioso, Nicola
A1 - Graff, Mariaelisa
A1 - Grallert, Harald
A1 - Grarup, Niels
A1 - Gräßler, Jürgen
A1 - Grewal, Jagvir
A1 - Hamsten, Anders
A1 - Harder, Marie Neergaard
A1 - Hartman, Catharina A
A1 - Hassinen, Maija
A1 - Hastie, Nicholas
A1 - Hattersley, Andrew Tym
A1 - Havulinna, Aki S
A1 - Heliövaara, Markku
A1 - Hillege, Hans
A1 - Hofman, Albert
A1 - Holmen, Oddgeir
A1 - Homuth, Georg
A1 - Hottenga, Jouke-Jan
A1 - Hui, Jennie
A1 - Husemoen, Lise Lotte
A1 - Hysi, Pirro G
A1 - Isaacs, Aaron
A1 - Ittermann, Till
A1 - Jalilzadeh, Shapour
A1 - James, Alan L
A1 - Jørgensen, Torben
A1 - Jousilahti, Pekka
A1 - Jula, Antti
A1 - Marie Justesen, Johanne
A1 - Justice, Anne E
A1 - Kähönen, Mika
A1 - Karaleftheri, Maria
A1 - Tee Khaw, Kay
A1 - Keinanen-Kiukaanniemi, Sirkka M
A1 - Kinnunen, Leena
A1 - Knekt, Paul B
A1 - Koistinen, Heikki A
A1 - Kolcic, Ivana
A1 - Kooner, Ishminder K
A1 - Koskinen, Seppo
A1 - Kovacs, Peter
A1 - Kyriakou, Theodosios
A1 - Laitinen, Tomi
A1 - Langenberg, Claudia
A1 - Lewin, Alexandra M
A1 - Lichtner, Peter
A1 - Lindgren, Cecilia M
A1 - Lindström, Jaana
A1 - Linneberg, Allan
A1 - Lorbeer, Roberto
A1 - Lorentzon, Mattias
A1 - Luben, Robert
A1 - Lyssenko, Valeriya
A1 - Männistö, Satu
A1 - Manunta, Paolo
A1 - Leach, Irene Mateo
A1 - McArdle, Wendy L
A1 - McKnight, Barbara
A1 - Mohlke, Karen L
A1 - Mihailov, Evelin
A1 - Milani, Lili
A1 - Mills, Rebecca
A1 - Montasser, May E
A1 - Morris, Andrew P
A1 - Müller, Gabriele
A1 - Musk, Arthur W
A1 - Narisu, Narisu
A1 - Ong, Ken K
A1 - Oostra, Ben A
A1 - Osmond, Clive
A1 - Palotie, Aarno
A1 - Pankow, James S
A1 - Paternoster, Lavinia
A1 - Penninx, Brenda W
A1 - Pichler, Irene
A1 - Pilia, Maria G
A1 - Polasek, Ozren
A1 - Pramstaller, Peter P
A1 - Raitakari, Olli T
A1 - Rankinen, Tuomo
A1 - Rao, D C
A1 - Rayner, Nigel W
A1 - Ribel-Madsen, Rasmus
A1 - Rice, Treva K
A1 - Richards, Marcus
A1 - Ridker, Paul M
A1 - Rivadeneira, Fernando
A1 - Ryan, Kathy A
A1 - Sanna, Serena
A1 - Sarzynski, Mark A
A1 - Scholtens, Salome
A1 - Scott, Robert A
A1 - Sebert, Sylvain
A1 - Southam, Lorraine
A1 - Sparsø, Thomas Hempel
A1 - Steinthorsdottir, Valgerdur
A1 - Stirrups, Kathleen
A1 - Stolk, Ronald P
A1 - Strauch, Konstantin
A1 - Stringham, Heather M
A1 - Swertz, Morris A
A1 - Swift, Amy J
A1 - Tönjes, Anke
A1 - Tsafantakis, Emmanouil
A1 - van der Most, Peter J
A1 - van Vliet-Ostaptchouk, Jana V
A1 - Vandenput, Liesbeth
A1 - Vartiainen, Erkki
A1 - Venturini, Cristina
A1 - Verweij, Niek
A1 - Viikari, Jorma S
A1 - Vitart, Veronique
A1 - Vohl, Marie-Claude
A1 - Vonk, Judith M
A1 - Waeber, Gérard
A1 - Widen, Elisabeth
A1 - Willemsen, Gonneke
A1 - Wilsgaard, Tom
A1 - Winkler, Thomas W
A1 - Wright, Alan F
A1 - Yerges-Armstrong, Laura M
A1 - Hua Zhao, Jing
A1 - Zillikens, M Carola
A1 - Boomsma, Dorret I
A1 - Bouchard, Claude
A1 - Chambers, John C
A1 - Chasman, Daniel I
A1 - Cusi, Daniele
A1 - Gansevoort, Ron T
A1 - Gieger, Christian
A1 - Hansen, Torben
A1 - Hicks, Andrew A
A1 - Hu, Frank
A1 - Hveem, Kristian
A1 - Jarvelin, Marjo-Riitta
A1 - Kajantie, Eero
A1 - Kooner, Jaspal S
A1 - Kuh, Diana
A1 - Kuusisto, Johanna
A1 - Laakso, Markku
A1 - Lakka, Timo A
A1 - Lehtimäki, Terho
A1 - Metspalu, Andres
A1 - Njølstad, Inger
A1 - Ohlsson, Claes
A1 - Oldehinkel, Albertine J
A1 - Palmer, Lyle J
A1 - Pedersen, Oluf
A1 - Perola, Markus
A1 - Peters, Annette
A1 - Psaty, Bruce M
A1 - Puolijoki, Hannu
A1 - Rauramaa, Rainer
A1 - Rudan, Igor
A1 - Salomaa, Veikko
A1 - Schwarz, Peter E H
A1 - Shudiner, Alan R
A1 - Smit, Jan H
A1 - Sørensen, Thorkild I A
A1 - Spector, Timothy D
A1 - Stefansson, Kari
A1 - Stumvoll, Michael
A1 - Tremblay, Angelo
A1 - Tuomilehto, Jaakko
A1 - Uitterlinden, André G
A1 - Uusitupa, Matti
A1 - Völker, Uwe
A1 - Vollenweider, Peter
A1 - Wareham, Nicholas J
A1 - Watkins, Hugh
A1 - Wilson, James F
A1 - Zeggini, Eleftheria
A1 - Abecasis, Goncalo R
A1 - Boehnke, Michael
A1 - Borecki, Ingrid B
A1 - Deloukas, Panos
A1 - van Duijn, Cornelia M
A1 - Fox, Caroline
A1 - Groop, Leif C
A1 - Heid, Iris M
A1 - Hunter, David J
A1 - Kaplan, Robert C
A1 - McCarthy, Mark I
A1 - North, Kari E
A1 - O'Connell, Jeffrey R
A1 - Schlessinger, David
A1 - Thorsteinsdottir, Unnur
A1 - Strachan, David P
A1 - Frayling, Timothy
A1 - Hirschhorn, Joel N
A1 - Müller-Nurasyid, Martina
A1 - Loos, Ruth J F
KW - Anthropometry
KW - Body Size
KW - Genome-Wide Association Study
KW - Genotype
KW - Humans
KW - Models, Genetic
KW - Principal Component Analysis
AB - Large consortia have revealed hundreds of genetic loci associated with anthropometric traits, one trait at a time. We examined whether genetic variants affect body shape as a composite phenotype that is represented by a combination of anthropometric traits. We developed an approach that calculates averaged PCs (AvPCs) representing body shape derived from six anthropometric traits (body mass index, height, weight, waist and hip circumference, waist-to-hip ratio). The first four AvPCs explain >99% of the variability, are heritable, and associate with cardiometabolic outcomes. We performed genome-wide association analyses for each body shape composite phenotype across 65 studies and meta-analysed summary statistics. We identify six novel loci: LEMD2 and CD47 for AvPC1, RPS6KA5/C14orf159 and GANAB for AvPC3, and ARL15 and ANP32 for AvPC4. Our findings highlight the value of using multiple traits to define complex phenotypes for discovery, which are not captured by single-trait analyses, and may shed light onto new pathways.
VL - 7
ER -
TY - JOUR
T1 - Genetic loci associated with heart rate variability and their effects on cardiac disease risk.
JF - Nat Commun
Y1 - 2017
A1 - Nolte, Ilja M
A1 - Munoz, M Loretto
A1 - Tragante, Vinicius
A1 - Amare, Azmeraw T
A1 - Jansen, Rick
A1 - Vaez, Ahmad
A1 - von der Heyde, Benedikt
A1 - Avery, Christy L
A1 - Bis, Joshua C
A1 - Dierckx, Bram
A1 - van Dongen, Jenny
A1 - Gogarten, Stephanie M
A1 - Goyette, Philippe
A1 - Hernesniemi, Jussi
A1 - Huikari, Ville
A1 - Hwang, Shih-Jen
A1 - Jaju, Deepali
A1 - Kerr, Kathleen F
A1 - Kluttig, Alexander
A1 - Krijthe, Bouwe P
A1 - Kumar, Jitender
A1 - van der Laan, Sander W
A1 - Lyytikäinen, Leo-Pekka
A1 - Maihofer, Adam X
A1 - Minassian, Arpi
A1 - van der Most, Peter J
A1 - Müller-Nurasyid, Martina
A1 - Nivard, Michel
A1 - Salvi, Erika
A1 - Stewart, James D
A1 - Thayer, Julian F
A1 - Verweij, Niek
A1 - Wong, Andrew
A1 - Zabaneh, Delilah
A1 - Zafarmand, Mohammad H
A1 - Abdellaoui, Abdel
A1 - Albarwani, Sulayma
A1 - Albert, Christine
A1 - Alonso, Alvaro
A1 - Ashar, Foram
A1 - Auvinen, Juha
A1 - Axelsson, Tomas
A1 - Baker, Dewleen G
A1 - de Bakker, Paul I W
A1 - Barcella, Matteo
A1 - Bayoumi, Riad
A1 - Bieringa, Rob J
A1 - Boomsma, Dorret
A1 - Boucher, Gabrielle
A1 - Britton, Annie R
A1 - Christophersen, Ingrid
A1 - Dietrich, Andrea
A1 - Ehret, George B
A1 - Ellinor, Patrick T
A1 - Eskola, Markku
A1 - Felix, Janine F
A1 - Floras, John S
A1 - Franco, Oscar H
A1 - Friberg, Peter
A1 - Gademan, Maaike G J
A1 - Geyer, Mark A
A1 - Giedraitis, Vilmantas
A1 - Hartman, Catharina A
A1 - Hemerich, Daiane
A1 - Hofman, Albert
A1 - Hottenga, Jouke-Jan
A1 - Huikuri, Heikki
A1 - Hutri-Kähönen, Nina
A1 - Jouven, Xavier
A1 - Junttila, Juhani
A1 - Juonala, Markus
A1 - Kiviniemi, Antti M
A1 - Kors, Jan A
A1 - Kumari, Meena
A1 - Kuznetsova, Tatiana
A1 - Laurie, Cathy C
A1 - Lefrandt, Joop D
A1 - Li, Yong
A1 - Li, Yun
A1 - Liao, Duanping
A1 - Limacher, Marian C
A1 - Lin, Henry J
A1 - Lindgren, Cecilia M
A1 - Lubitz, Steven A
A1 - Mahajan, Anubha
A1 - McKnight, Barbara
A1 - Zu Schwabedissen, Henriette Meyer
A1 - Milaneschi, Yuri
A1 - Mononen, Nina
A1 - Morris, Andrew P
A1 - Nalls, Mike A
A1 - Navis, Gerjan
A1 - Neijts, Melanie
A1 - Nikus, Kjell
A1 - North, Kari E
A1 - O'Connor, Daniel T
A1 - Ormel, Johan
A1 - Perz, Siegfried
A1 - Peters, Annette
A1 - Psaty, Bruce M
A1 - Raitakari, Olli T
A1 - Risbrough, Victoria B
A1 - Sinner, Moritz F
A1 - Siscovick, David
A1 - Smit, Johannes H
A1 - Smith, Nicholas L
A1 - Soliman, Elsayed Z
A1 - Sotoodehnia, Nona
A1 - Staessen, Jan A
A1 - Stein, Phyllis K
A1 - Stilp, Adrienne M
A1 - Stolarz-Skrzypek, Katarzyna
A1 - Strauch, Konstantin
A1 - Sundström, Johan
A1 - Swenne, Cees A
A1 - Syvänen, Ann-Christine
A1 - Tardif, Jean-Claude
A1 - Taylor, Kent D
A1 - Teumer, Alexander
A1 - Thornton, Timothy A
A1 - Tinker, Lesley E
A1 - Uitterlinden, André G
A1 - van Setten, Jessica
A1 - Voss, Andreas
A1 - Waldenberger, Melanie
A1 - Wilhelmsen, Kirk C
A1 - Willemsen, Gonneke
A1 - Wong, Quenna
A1 - Zhang, Zhu-Ming
A1 - Zonderman, Alan B
A1 - Cusi, Daniele
A1 - Evans, Michele K
A1 - Greiser, Halina K
A1 - van der Harst, Pim
A1 - Hassan, Mohammad
A1 - Ingelsson, Erik
A1 - Jarvelin, Marjo-Riitta
A1 - Kääb, Stefan
A1 - Kähönen, Mika
A1 - Kivimaki, Mika
A1 - Kooperberg, Charles
A1 - Kuh, Diana
A1 - Lehtimäki, Terho
A1 - Lind, Lars
A1 - Nievergelt, Caroline M
A1 - O'Donnell, Chris J
A1 - Oldehinkel, Albertine J
A1 - Penninx, Brenda
A1 - Reiner, Alexander P
A1 - Riese, Harriëtte
A1 - van Roon, Arie M
A1 - Rioux, John D
A1 - Rotter, Jerome I
A1 - Sofer, Tamar
A1 - Stricker, Bruno H
A1 - Tiemeier, Henning
A1 - Vrijkotte, Tanja G M
A1 - Asselbergs, Folkert W
A1 - Brundel, Bianca J J M
A1 - Heckbert, Susan R
A1 - Whitsel, Eric A
A1 - den Hoed, Marcel
A1 - Snieder, Harold
A1 - de Geus, Eco J C
AB - Reduced cardiac vagal control reflected in low heart rate variability (HRV) is associated with greater risks for cardiac morbidity and mortality. In two-stage meta-analyses of genome-wide association studies for three HRV traits in up to 53,174 individuals of European ancestry, we detect 17 genome-wide significant SNPs in eight loci. HRV SNPs tag non-synonymous SNPs (in NDUFA11 and KIAA1755), expression quantitative trait loci (eQTLs) (influencing GNG11, RGS6 and NEO1), or are located in genes preferentially expressed in the sinoatrial node (GNG11, RGS6 and HCN4). Genetic risk scores account for 0.9 to 2.6% of the HRV variance. Significant genetic correlation is found for HRV with heart rate (-0.74
VL - 8
ER -
TY - JOUR
T1 - Impact of common genetic determinants of Hemoglobin A1c on type 2 diabetes risk and diagnosis in ancestrally diverse populations: A transethnic genome-wide meta-analysis.
JF - PLoS Med
Y1 - 2017
A1 - Wheeler, Eleanor
A1 - Leong, Aaron
A1 - Liu, Ching-Ti
A1 - Hivert, Marie-France
A1 - Strawbridge, Rona J
A1 - Podmore, Clara
A1 - Li, Man
A1 - Yao, Jie
A1 - Sim, Xueling
A1 - Hong, Jaeyoung
A1 - Chu, Audrey Y
A1 - Zhang, Weihua
A1 - Wang, Xu
A1 - Chen, Peng
A1 - Maruthur, Nisa M
A1 - Porneala, Bianca C
A1 - Sharp, Stephen J
A1 - Jia, Yucheng
A1 - Kabagambe, Edmond K
A1 - Chang, Li-Ching
A1 - Chen, Wei-Min
A1 - Elks, Cathy E
A1 - Evans, Daniel S
A1 - Fan, Qiao
A1 - Giulianini, Franco
A1 - Go, Min Jin
A1 - Hottenga, Jouke-Jan
A1 - Hu, Yao
A1 - Jackson, Anne U
A1 - Kanoni, Stavroula
A1 - Kim, Young Jin
A1 - Kleber, Marcus E
A1 - Ladenvall, Claes
A1 - Lecoeur, Cécile
A1 - Lim, Sing-Hui
A1 - Lu, Yingchang
A1 - Mahajan, Anubha
A1 - Marzi, Carola
A1 - Nalls, Mike A
A1 - Navarro, Pau
A1 - Nolte, Ilja M
A1 - Rose, Lynda M
A1 - Rybin, Denis V
A1 - Sanna, Serena
A1 - Shi, Yuan
A1 - Stram, Daniel O
A1 - Takeuchi, Fumihiko
A1 - Tan, Shu Pei
A1 - van der Most, Peter J
A1 - van Vliet-Ostaptchouk, Jana V
A1 - Wong, Andrew
A1 - Yengo, Loic
A1 - Zhao, Wanting
A1 - Goel, Anuj
A1 - Martinez Larrad, Maria Teresa
A1 - Radke, Dörte
A1 - Salo, Perttu
A1 - Tanaka, Toshiko
A1 - van Iperen, Erik P A
A1 - Abecasis, Goncalo
A1 - Afaq, Saima
A1 - Alizadeh, Behrooz Z
A1 - Bertoni, Alain G
A1 - Bonnefond, Amélie
A1 - Böttcher, Yvonne
A1 - Bottinger, Erwin P
A1 - Campbell, Harry
A1 - Carlson, Olga D
A1 - Chen, Chien-Hsiun
A1 - Cho, Yoon Shin
A1 - Garvey, W Timothy
A1 - Gieger, Christian
A1 - Goodarzi, Mark O
A1 - Grallert, Harald
A1 - Hamsten, Anders
A1 - Hartman, Catharina A
A1 - Herder, Christian
A1 - Hsiung, Chao Agnes
A1 - Huang, Jie
A1 - Igase, Michiya
A1 - Isono, Masato
A1 - Katsuya, Tomohiro
A1 - Khor, Chiea-Chuen
A1 - Kiess, Wieland
A1 - Kohara, Katsuhiko
A1 - Kovacs, Peter
A1 - Lee, Juyoung
A1 - Lee, Wen-Jane
A1 - Lehne, Benjamin
A1 - Li, Huaixing
A1 - Liu, Jianjun
A1 - Lobbens, Stephane
A1 - Luan, Jian'an
A1 - Lyssenko, Valeriya
A1 - Meitinger, Thomas
A1 - Miki, Tetsuro
A1 - Miljkovic, Iva
A1 - Moon, Sanghoon
A1 - Mulas, Antonella
A1 - Müller, Gabriele
A1 - Müller-Nurasyid, Martina
A1 - Nagaraja, Ramaiah
A1 - Nauck, Matthias
A1 - Pankow, James S
A1 - Polasek, Ozren
A1 - Prokopenko, Inga
A1 - Ramos, Paula S
A1 - Rasmussen-Torvik, Laura
A1 - Rathmann, Wolfgang
A1 - Rich, Stephen S
A1 - Robertson, Neil R
A1 - Roden, Michael
A1 - Roussel, Ronan
A1 - Rudan, Igor
A1 - Scott, Robert A
A1 - Scott, William R
A1 - Sennblad, Bengt
A1 - Siscovick, David S
A1 - Strauch, Konstantin
A1 - Sun, Liang
A1 - Swertz, Morris
A1 - Tajuddin, Salman M
A1 - Taylor, Kent D
A1 - Teo, Yik-Ying
A1 - Tham, Yih Chung
A1 - Tönjes, Anke
A1 - Wareham, Nicholas J
A1 - Willemsen, Gonneke
A1 - Wilsgaard, Tom
A1 - Hingorani, Aroon D
A1 - Egan, Josephine
A1 - Ferrucci, Luigi
A1 - Hovingh, G Kees
A1 - Jula, Antti
A1 - Kivimaki, Mika
A1 - Kumari, Meena
A1 - Njølstad, Inger
A1 - Palmer, Colin N A
A1 - Serrano Ríos, Manuel
A1 - Stumvoll, Michael
A1 - Watkins, Hugh
A1 - Aung, Tin
A1 - Blüher, Matthias
A1 - Boehnke, Michael
A1 - Boomsma, Dorret I
A1 - Bornstein, Stefan R
A1 - Chambers, John C
A1 - Chasman, Daniel I
A1 - Chen, Yii-Der Ida
A1 - Chen, Yduan-Tsong
A1 - Cheng, Ching-Yu
A1 - Cucca, Francesco
A1 - de Geus, Eco J C
A1 - Deloukas, Panos
A1 - Evans, Michele K
A1 - Fornage, Myriam
A1 - Friedlander, Yechiel
A1 - Froguel, Philippe
A1 - Groop, Leif
A1 - Gross, Myron D
A1 - Harris, Tamara B
A1 - Hayward, Caroline
A1 - Heng, Chew-Kiat
A1 - Ingelsson, Erik
A1 - Kato, Norihiro
A1 - Kim, Bong-Jo
A1 - Koh, Woon-Puay
A1 - Kooner, Jaspal S
A1 - Körner, Antje
A1 - Kuh, Diana
A1 - Kuusisto, Johanna
A1 - Laakso, Markku
A1 - Lin, Xu
A1 - Liu, Yongmei
A1 - Loos, Ruth J F
A1 - Magnusson, Patrik K E
A1 - März, Winfried
A1 - McCarthy, Mark I
A1 - Oldehinkel, Albertine J
A1 - Ong, Ken K
A1 - Pedersen, Nancy L
A1 - Pereira, Mark A
A1 - Peters, Annette
A1 - Ridker, Paul M
A1 - Sabanayagam, Charumathi
A1 - Sale, Michele
A1 - Saleheen, Danish
A1 - Saltevo, Juha
A1 - Schwarz, Peter Eh
A1 - Sheu, Wayne H H
A1 - Snieder, Harold
A1 - Spector, Timothy D
A1 - Tabara, Yasuharu
A1 - Tuomilehto, Jaakko
A1 - van Dam, Rob M
A1 - Wilson, James G
A1 - Wilson, James F
A1 - Wolffenbuttel, Bruce H R
A1 - Wong, Tien Yin
A1 - Wu, Jer-Yuarn
A1 - Yuan, Jian-Min
A1 - Zonderman, Alan B
A1 - Soranzo, Nicole
A1 - Guo, Xiuqing
A1 - Roberts, David J
A1 - Florez, Jose C
A1 - Sladek, Robert
A1 - Dupuis, Josée
A1 - Morris, Andrew P
A1 - Tai, E-Shyong
A1 - Selvin, Elizabeth
A1 - Rotter, Jerome I
A1 - Langenberg, Claudia
A1 - Barroso, Inês
A1 - Meigs, James B
KW - Diabetes Mellitus, Type 2
KW - Genetic Variation
KW - Genome-Wide Association Study
KW - Glycated Hemoglobin A
KW - Humans
KW - Phenotype
KW - Risk
AB - BACKGROUND: Glycated hemoglobin (HbA1c) is used to diagnose type 2 diabetes (T2D) and assess glycemic control in patients with diabetes. Previous genome-wide association studies (GWAS) have identified 18 HbA1c-associated genetic variants. These variants proved to be classifiable by their likely biological action as erythrocytic (also associated with erythrocyte traits) or glycemic (associated with other glucose-related traits). In this study, we tested the hypotheses that, in a very large scale GWAS, we would identify more genetic variants associated with HbA1c and that HbA1c variants implicated in erythrocytic biology would affect the diagnostic accuracy of HbA1c. We therefore expanded the number of HbA1c-associated loci and tested the effect of genetic risk-scores comprised of erythrocytic or glycemic variants on incident diabetes prediction and on prevalent diabetes screening performance. Throughout this multiancestry study, we kept a focus on interancestry differences in HbA1c genetics performance that might influence race-ancestry differences in health outcomes.
METHODS & FINDINGS: Using genome-wide association meta-analyses in up to 159,940 individuals from 82 cohorts of European, African, East Asian, and South Asian ancestry, we identified 60 common genetic variants associated with HbA1c. We classified variants as implicated in glycemic, erythrocytic, or unclassified biology and tested whether additive genetic scores of erythrocytic variants (GS-E) or glycemic variants (GS-G) were associated with higher T2D incidence in multiethnic longitudinal cohorts (N = 33,241). Nineteen glycemic and 22 erythrocytic variants were associated with HbA1c at genome-wide significance. GS-G was associated with higher T2D risk (incidence OR = 1.05, 95% CI 1.04-1.06, per HbA1c-raising allele, p = 3 × 10-29); whereas GS-E was not (OR = 1.00, 95% CI 0.99-1.01, p = 0.60). In Europeans and Asians, erythrocytic variants in aggregate had only modest effects on the diagnostic accuracy of HbA1c. Yet, in African Americans, the X-linked G6PD G202A variant (T-allele frequency 11%) was associated with an absolute decrease in HbA1c of 0.81%-units (95% CI 0.66-0.96) per allele in hemizygous men, and 0.68%-units (95% CI 0.38-0.97) in homozygous women. The G6PD variant may cause approximately 2% (N = 0.65 million, 95% CI 0.55-0.74) of African American adults with T2D to remain undiagnosed when screened with HbA1c. Limitations include the smaller sample sizes for non-European ancestries and the inability to classify approximately one-third of the variants. Further studies in large multiethnic cohorts with HbA1c, glycemic, and erythrocytic traits are required to better determine the biological action of the unclassified variants.
CONCLUSIONS: As G6PD deficiency can be clinically silent until illness strikes, we recommend investigation of the possible benefits of screening for the G6PD genotype along with using HbA1c to diagnose T2D in populations of African ancestry or groups where G6PD deficiency is common. Screening with direct glucose measurements, or genetically-informed HbA1c diagnostic thresholds in people with G6PD deficiency, may be required to avoid missed or delayed diagnoses.
VL - 14
IS - 9
ER -
TY - JOUR
T1 - Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney.
JF - Hypertension
Y1 - 2017
A1 - Wain, Louise V
A1 - Vaez, Ahmad
A1 - Jansen, Rick
A1 - Joehanes, Roby
A1 - van der Most, Peter J
A1 - Erzurumluoglu, A Mesut
A1 - O'Reilly, Paul F
A1 - Cabrera, Claudia P
A1 - Warren, Helen R
A1 - Rose, Lynda M
A1 - Verwoert, Germaine C
A1 - Hottenga, Jouke-Jan
A1 - Strawbridge, Rona J
A1 - Esko, Tõnu
A1 - Arking, Dan E
A1 - Hwang, Shih-Jen
A1 - Guo, Xiuqing
A1 - Kutalik, Zoltán
A1 - Trompet, Stella
A1 - Shrine, Nick
A1 - Teumer, Alexander
A1 - Ried, Janina S
A1 - Bis, Joshua C
A1 - Smith, Albert V
A1 - Amin, Najaf
A1 - Nolte, Ilja M
A1 - Lyytikäinen, Leo-Pekka
A1 - Mahajan, Anubha
A1 - Wareham, Nicholas J
A1 - Hofer, Edith
A1 - Joshi, Peter K
A1 - Kristiansson, Kati
A1 - Traglia, Michela
A1 - Havulinna, Aki S
A1 - Goel, Anuj
A1 - Nalls, Mike A
A1 - Sõber, Siim
A1 - Vuckovic, Dragana
A1 - Luan, Jian'an
A1 - del Greco M, Fabiola
A1 - Ayers, Kristin L
A1 - Marrugat, Jaume
A1 - Ruggiero, Daniela
A1 - Lopez, Lorna M
A1 - Niiranen, Teemu
A1 - Enroth, Stefan
A1 - Jackson, Anne U
A1 - Nelson, Christopher P
A1 - Huffman, Jennifer E
A1 - Zhang, Weihua
A1 - Marten, Jonathan
A1 - Gandin, Ilaria
A1 - Harris, Sarah E
A1 - Zemunik, Tatijana
A1 - Lu, Yingchang
A1 - Evangelou, Evangelos
A1 - Shah, Nabi
A1 - de Borst, Martin H
A1 - Mangino, Massimo
A1 - Prins, Bram P
A1 - Campbell, Archie
A1 - Li-Gao, Ruifang
A1 - Chauhan, Ganesh
A1 - Oldmeadow, Christopher
A1 - Abecasis, Goncalo
A1 - Abedi, Maryam
A1 - Barbieri, Caterina M
A1 - Barnes, Michael R
A1 - Batini, Chiara
A1 - Beilby, John
A1 - Blake, Tineka
A1 - Boehnke, Michael
A1 - Bottinger, Erwin P
A1 - Braund, Peter S
A1 - Brown, Morris
A1 - Brumat, Marco
A1 - Campbell, Harry
A1 - Chambers, John C
A1 - Cocca, Massimiliano
A1 - Collins, Francis
A1 - Connell, John
A1 - Cordell, Heather J
A1 - Damman, Jeffrey J
A1 - Davies, Gail
A1 - de Geus, Eco J
A1 - de Mutsert, Renée
A1 - Deelen, Joris
A1 - Demirkale, Yusuf
A1 - Doney, Alex S F
A1 - Dörr, Marcus
A1 - Farrall, Martin
A1 - Ferreira, Teresa
A1 - Frånberg, Mattias
A1 - Gao, He
A1 - Giedraitis, Vilmantas
A1 - Gieger, Christian
A1 - Giulianini, Franco
A1 - Gow, Alan J
A1 - Hamsten, Anders
A1 - Harris, Tamara B
A1 - Hofman, Albert
A1 - Holliday, Elizabeth G
A1 - Hui, Jennie
A1 - Jarvelin, Marjo-Riitta
A1 - Johansson, Asa
A1 - Johnson, Andrew D
A1 - Jousilahti, Pekka
A1 - Jula, Antti
A1 - Kähönen, Mika
A1 - Kathiresan, Sekar
A1 - Khaw, Kay-Tee
A1 - Kolcic, Ivana
A1 - Koskinen, Seppo
A1 - Langenberg, Claudia
A1 - Larson, Marty
A1 - Launer, Lenore J
A1 - Lehne, Benjamin
A1 - Liewald, David C M
A1 - Lin, Li
A1 - Lind, Lars
A1 - Mach, François
A1 - Mamasoula, Chrysovalanto
A1 - Menni, Cristina
A1 - Mifsud, Borbala
A1 - Milaneschi, Yuri
A1 - Morgan, Anna
A1 - Morris, Andrew D
A1 - Morrison, Alanna C
A1 - Munson, Peter J
A1 - Nandakumar, Priyanka
A1 - Nguyen, Quang Tri
A1 - Nutile, Teresa
A1 - Oldehinkel, Albertine J
A1 - Oostra, Ben A
A1 - Org, Elin
A1 - Padmanabhan, Sandosh
A1 - Palotie, Aarno
A1 - Paré, Guillaume
A1 - Pattie, Alison
A1 - Penninx, Brenda W J H
A1 - Poulter, Neil
A1 - Pramstaller, Peter P
A1 - Raitakari, Olli T
A1 - Ren, Meixia
A1 - Rice, Kenneth
A1 - Ridker, Paul M
A1 - Riese, Harriëtte
A1 - Ripatti, Samuli
A1 - Robino, Antonietta
A1 - Rotter, Jerome I
A1 - Rudan, Igor
A1 - Saba, Yasaman
A1 - Saint Pierre, Aude
A1 - Sala, Cinzia F
A1 - Sarin, Antti-Pekka
A1 - Schmidt, Reinhold
A1 - Scott, Rodney
A1 - Seelen, Marc A
A1 - Shields, Denis C
A1 - Siscovick, David
A1 - Sorice, Rossella
A1 - Stanton, Alice
A1 - Stott, David J
A1 - Sundström, Johan
A1 - Swertz, Morris
A1 - Taylor, Kent D
A1 - Thom, Simon
A1 - Tzoulaki, Ioanna
A1 - Tzourio, Christophe
A1 - Uitterlinden, André G
A1 - Völker, Uwe
A1 - Vollenweider, Peter
A1 - Wild, Sarah
A1 - Willemsen, Gonneke
A1 - Wright, Alan F
A1 - Yao, Jie
A1 - Thériault, Sébastien
A1 - Conen, David
A1 - Attia, John
A1 - Sever, Peter
A1 - Debette, Stephanie
A1 - Mook-Kanamori, Dennis O
A1 - Zeggini, Eleftheria
A1 - Spector, Tim D
A1 - van der Harst, Pim
A1 - Palmer, Colin N A
A1 - Vergnaud, Anne-Claire
A1 - Loos, Ruth J F
A1 - Polasek, Ozren
A1 - Starr, John M
A1 - Girotto, Giorgia
A1 - Hayward, Caroline
A1 - Kooner, Jaspal S
A1 - Lindgren, Cecila M
A1 - Vitart, Veronique
A1 - Samani, Nilesh J
A1 - Tuomilehto, Jaakko
A1 - Gyllensten, Ulf
A1 - Knekt, Paul
A1 - Deary, Ian J
A1 - Ciullo, Marina
A1 - Elosua, Roberto
A1 - Keavney, Bernard D
A1 - Hicks, Andrew A
A1 - Scott, Robert A
A1 - Gasparini, Paolo
A1 - Laan, Maris
A1 - Liu, Yongmei
A1 - Watkins, Hugh
A1 - Hartman, Catharina A
A1 - Salomaa, Veikko
A1 - Toniolo, Daniela
A1 - Perola, Markus
A1 - Wilson, James F
A1 - Schmidt, Helena
A1 - Zhao, Jing Hua
A1 - Lehtimäki, Terho
A1 - van Duijn, Cornelia M
A1 - Gudnason, Vilmundur
A1 - Psaty, Bruce M
A1 - Peters, Annette
A1 - Rettig, Rainer
A1 - James, Alan
A1 - Jukema, J Wouter
A1 - Strachan, David P
A1 - Palmas, Walter
A1 - Metspalu, Andres
A1 - Ingelsson, Erik
A1 - Boomsma, Dorret I
A1 - Franco, Oscar H
A1 - Bochud, Murielle
A1 - Newton-Cheh, Christopher
A1 - Munroe, Patricia B
A1 - Elliott, Paul
A1 - Chasman, Daniel I
A1 - Chakravarti, Aravinda
A1 - Knight, Joanne
A1 - Morris, Andrew P
A1 - Levy, Daniel
A1 - Tobin, Martin D
A1 - Snieder, Harold
A1 - Caulfield, Mark J
A1 - Ehret, Georg B
AB - Elevated blood pressure is a major risk factor for cardiovascular disease and has a substantial genetic contribution. Genetic variation influencing blood pressure has the potential to identify new pharmacological targets for the treatment of hypertension. To discover additional novel blood pressure loci, we used 1000 Genomes Project-based imputation in 150 134 European ancestry individuals and sought significant evidence for independent replication in a further 228 245 individuals. We report 6 new signals of association in or near HSPB7, TNXB, LRP12, LOC283335, SEPT9, and AKT2, and provide new replication evidence for a further 2 signals in EBF2 and NFKBIA Combining large whole-blood gene expression resources totaling 12 607 individuals, we investigated all novel and previously reported signals and identified 48 genes with evidence for involvement in blood pressure regulation that are significant in multiple resources. Three novel kidney-specific signals were also detected. These robustly implicated genes may provide new leads for therapeutic innovation.
ER -
TY - JOUR
T1 - Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits.
JF - Nat Genet
Y1 - 2018
A1 - Evangelou, Evangelos
A1 - Warren, Helen R
A1 - Mosen-Ansorena, David
A1 - Mifsud, Borbala
A1 - Pazoki, Raha
A1 - Gao, He
A1 - Ntritsos, Georgios
A1 - Dimou, Niki
A1 - Cabrera, Claudia P
A1 - Karaman, Ibrahim
A1 - Ng, Fu Liang
A1 - Evangelou, Marina
A1 - Witkowska, Katarzyna
A1 - Tzanis, Evan
A1 - Hellwege, Jacklyn N
A1 - Giri, Ayush
A1 - Velez Edwards, Digna R
A1 - Sun, Yan V
A1 - Cho, Kelly
A1 - Gaziano, J Michael
A1 - Wilson, Peter W F
A1 - Tsao, Philip S
A1 - Kovesdy, Csaba P
A1 - Esko, Tõnu
A1 - Mägi, Reedik
A1 - Milani, Lili
A1 - Almgren, Peter
A1 - Boutin, Thibaud
A1 - Debette, Stephanie
A1 - Ding, Jun
A1 - Giulianini, Franco
A1 - Holliday, Elizabeth G
A1 - Jackson, Anne U
A1 - Li-Gao, Ruifang
A1 - Lin, Wei-Yu
A1 - Luan, Jian'an
A1 - Mangino, Massimo
A1 - Oldmeadow, Christopher
A1 - Prins, Bram Peter
A1 - Qian, Yong
A1 - Sargurupremraj, Muralidharan
A1 - Shah, Nabi
A1 - Surendran, Praveen
A1 - Thériault, Sébastien
A1 - Verweij, Niek
A1 - Willems, Sara M
A1 - Zhao, Jing-Hua
A1 - Amouyel, Philippe
A1 - Connell, John
A1 - de Mutsert, Renée
A1 - Doney, Alex S F
A1 - Farrall, Martin
A1 - Menni, Cristina
A1 - Morris, Andrew D
A1 - Noordam, Raymond
A1 - Paré, Guillaume
A1 - Poulter, Neil R
A1 - Shields, Denis C
A1 - Stanton, Alice
A1 - Thom, Simon
A1 - Abecasis, Goncalo
A1 - Amin, Najaf
A1 - Arking, Dan E
A1 - Ayers, Kristin L
A1 - Barbieri, Caterina M
A1 - Batini, Chiara
A1 - Bis, Joshua C
A1 - Blake, Tineka
A1 - Bochud, Murielle
A1 - Boehnke, Michael
A1 - Boerwinkle, Eric
A1 - Boomsma, Dorret I
A1 - Bottinger, Erwin P
A1 - Braund, Peter S
A1 - Brumat, Marco
A1 - Campbell, Archie
A1 - Campbell, Harry
A1 - Chakravarti, Aravinda
A1 - Chambers, John C
A1 - Chauhan, Ganesh
A1 - Ciullo, Marina
A1 - Cocca, Massimiliano
A1 - Collins, Francis
A1 - Cordell, Heather J
A1 - Davies, Gail
A1 - Borst, Martin H de
A1 - Geus, Eco J de
A1 - Deary, Ian J
A1 - Deelen, Joris
A1 - del Greco M, Fabiola
A1 - Demirkale, Cumhur Yusuf
A1 - Dörr, Marcus
A1 - Ehret, Georg B
A1 - Elosua, Roberto
A1 - Enroth, Stefan
A1 - Erzurumluoglu, A Mesut
A1 - Ferreira, Teresa
A1 - Frånberg, Mattias
A1 - Franco, Oscar H
A1 - Gandin, Ilaria
A1 - Gasparini, Paolo
A1 - Giedraitis, Vilmantas
A1 - Gieger, Christian
A1 - Girotto, Giorgia
A1 - Goel, Anuj
A1 - Gow, Alan J
A1 - Gudnason, Vilmundur
A1 - Guo, Xiuqing
A1 - Gyllensten, Ulf
A1 - Hamsten, Anders
A1 - Harris, Tamara B
A1 - Harris, Sarah E
A1 - Hartman, Catharina A
A1 - Havulinna, Aki S
A1 - Hicks, Andrew A
A1 - Hofer, Edith
A1 - Hofman, Albert
A1 - Hottenga, Jouke-Jan
A1 - Huffman, Jennifer E
A1 - Hwang, Shih-Jen
A1 - Ingelsson, Erik
A1 - James, Alan
A1 - Jansen, Rick
A1 - Jarvelin, Marjo-Riitta
A1 - Joehanes, Roby
A1 - Johansson, Asa
A1 - Johnson, Andrew D
A1 - Joshi, Peter K
A1 - Jousilahti, Pekka
A1 - Jukema, J Wouter
A1 - Jula, Antti
A1 - Kähönen, Mika
A1 - Kathiresan, Sekar
A1 - Keavney, Bernard D
A1 - Khaw, Kay-Tee
A1 - Knekt, Paul
A1 - Knight, Joanne
A1 - Kolcic, Ivana
A1 - Kooner, Jaspal S
A1 - Koskinen, Seppo
A1 - Kristiansson, Kati
A1 - Kutalik, Zoltán
A1 - Laan, Maris
A1 - Larson, Marty
A1 - Launer, Lenore J
A1 - Lehne, Benjamin
A1 - Lehtimäki, Terho
A1 - Liewald, David C M
A1 - Lin, Li
A1 - Lind, Lars
A1 - Lindgren, Cecilia M
A1 - Liu, Yongmei
A1 - Loos, Ruth J F
A1 - Lopez, Lorna M
A1 - Lu, Yingchang
A1 - Lyytikäinen, Leo-Pekka
A1 - Mahajan, Anubha
A1 - Mamasoula, Chrysovalanto
A1 - Marrugat, Jaume
A1 - Marten, Jonathan
A1 - Milaneschi, Yuri
A1 - Morgan, Anna
A1 - Morris, Andrew P
A1 - Morrison, Alanna C
A1 - Munson, Peter J
A1 - Nalls, Mike A
A1 - Nandakumar, Priyanka
A1 - Nelson, Christopher P
A1 - Niiranen, Teemu
A1 - Nolte, Ilja M
A1 - Nutile, Teresa
A1 - Oldehinkel, Albertine J
A1 - Oostra, Ben A
A1 - O'Reilly, Paul F
A1 - Org, Elin
A1 - Padmanabhan, Sandosh
A1 - Palmas, Walter
A1 - Palotie, Aarno
A1 - Pattie, Alison
A1 - Penninx, Brenda W J H
A1 - Perola, Markus
A1 - Peters, Annette
A1 - Polasek, Ozren
A1 - Pramstaller, Peter P
A1 - Nguyen, Quang Tri
A1 - Raitakari, Olli T
A1 - Ren, Meixia
A1 - Rettig, Rainer
A1 - Rice, Kenneth
A1 - Ridker, Paul M
A1 - Ried, Janina S
A1 - Riese, Harriëtte
A1 - Ripatti, Samuli
A1 - Robino, Antonietta
A1 - Rose, Lynda M
A1 - Rotter, Jerome I
A1 - Rudan, Igor
A1 - Ruggiero, Daniela
A1 - Saba, Yasaman
A1 - Sala, Cinzia F
A1 - Salomaa, Veikko
A1 - Samani, Nilesh J
A1 - Sarin, Antti-Pekka
A1 - Schmidt, Reinhold
A1 - Schmidt, Helena
A1 - Shrine, Nick
A1 - Siscovick, David
A1 - Smith, Albert V
A1 - Snieder, Harold
A1 - Sõber, Siim
A1 - Sorice, Rossella
A1 - Starr, John M
A1 - Stott, David J
A1 - Strachan, David P
A1 - Strawbridge, Rona J
A1 - Sundström, Johan
A1 - Swertz, Morris A
A1 - Taylor, Kent D
A1 - Teumer, Alexander
A1 - Tobin, Martin D
A1 - Tomaszewski, Maciej
A1 - Toniolo, Daniela
A1 - Traglia, Michela
A1 - Trompet, Stella
A1 - Tuomilehto, Jaakko
A1 - Tzourio, Christophe
A1 - Uitterlinden, André G
A1 - Vaez, Ahmad
A1 - van der Most, Peter J
A1 - van Duijn, Cornelia M
A1 - Vergnaud, Anne-Claire
A1 - Verwoert, Germaine C
A1 - Vitart, Veronique
A1 - Völker, Uwe
A1 - Vollenweider, Peter
A1 - Vuckovic, Dragana
A1 - Watkins, Hugh
A1 - Wild, Sarah H
A1 - Willemsen, Gonneke
A1 - Wilson, James F
A1 - Wright, Alan F
A1 - Yao, Jie
A1 - Zemunik, Tatijana
A1 - Zhang, Weihua
A1 - Attia, John R
A1 - Butterworth, Adam S
A1 - Chasman, Daniel I
A1 - Conen, David
A1 - Cucca, Francesco
A1 - Danesh, John
A1 - Hayward, Caroline
A1 - Howson, Joanna M M
A1 - Laakso, Markku
A1 - Lakatta, Edward G
A1 - Langenberg, Claudia
A1 - Melander, Olle
A1 - Mook-Kanamori, Dennis O
A1 - Palmer, Colin N A
A1 - Risch, Lorenz
A1 - Scott, Robert A
A1 - Scott, Rodney J
A1 - Sever, Peter
A1 - Spector, Tim D
A1 - van der Harst, Pim
A1 - Wareham, Nicholas J
A1 - Zeggini, Eleftheria
A1 - Levy, Daniel
A1 - Munroe, Patricia B
A1 - Newton-Cheh, Christopher
A1 - Brown, Morris J
A1 - Metspalu, Andres
A1 - Hung, Adriana M
A1 - O'Donnell, Christopher J
A1 - Edwards, Todd L
A1 - Psaty, Bruce M
A1 - Tzoulaki, Ioanna
A1 - Barnes, Michael R
A1 - Wain, Louise V
A1 - Elliott, Paul
A1 - Caulfield, Mark J
AB - High blood pressure is a highly heritable and modifiable risk factor for cardiovascular disease. We report the largest genetic association study of blood pressure traits (systolic, diastolic and pulse pressure) to date in over 1 million people of European ancestry. We identify 535 novel blood pressure loci that not only offer new biological insights into blood pressure regulation but also highlight shared genetic architecture between blood pressure and lifestyle exposures. Our findings identify new biological pathways for blood pressure regulation with potential for improved cardiovascular disease prevention in the future.
VL - 50
IS - 10
ER -
TY - JOUR
T1 - Genome Analyses of >200,000 Individuals Identify 58 Loci for Chronic Inflammation and Highlight Pathways that Link Inflammation and Complex Disorders.
JF - Am J Hum Genet
Y1 - 2018
A1 - Ligthart, Symen
A1 - Vaez, Ahmad
A1 - Võsa, Urmo
A1 - Stathopoulou, Maria G
A1 - de Vries, Paul S
A1 - Prins, Bram P
A1 - van der Most, Peter J
A1 - Tanaka, Toshiko
A1 - Naderi, Elnaz
A1 - Rose, Lynda M
A1 - Wu, Ying
A1 - Karlsson, Robert
A1 - Barbalic, Maja
A1 - Lin, Honghuang
A1 - Pool, Rene
A1 - Zhu, Gu
A1 - Mace, Aurelien
A1 - Sidore, Carlo
A1 - Trompet, Stella
A1 - Mangino, Massimo
A1 - Sabater-Lleal, Maria
A1 - Kemp, John P
A1 - Abbasi, Ali
A1 - Kacprowski, Tim
A1 - Verweij, Niek
A1 - Smith, Albert V
A1 - Huang, Tao
A1 - Marzi, Carola
A1 - Feitosa, Mary F
A1 - Lohman, Kurt K
A1 - Kleber, Marcus E
A1 - Milaneschi, Yuri
A1 - Mueller, Christian
A1 - Huq, Mahmudul
A1 - Vlachopoulou, Efthymia
A1 - Lyytikäinen, Leo-Pekka
A1 - Oldmeadow, Christopher
A1 - Deelen, Joris
A1 - Perola, Markus
A1 - Zhao, Jing Hua
A1 - Feenstra, Bjarke
A1 - Amini, Marzyeh
A1 - Lahti, Jari
A1 - Schraut, Katharina E
A1 - Fornage, Myriam
A1 - Suktitipat, Bhoom
A1 - Chen, Wei-Min
A1 - Li, Xiaohui
A1 - Nutile, Teresa
A1 - Malerba, Giovanni
A1 - Luan, Jian'an
A1 - Bak, Tom
A1 - Schork, Nicholas
A1 - del Greco M, Fabiola
A1 - Thiering, Elisabeth
A1 - Mahajan, Anubha
A1 - Marioni, Riccardo E
A1 - Mihailov, Evelin
A1 - Eriksson, Joel
A1 - Ozel, Ayse Bilge
A1 - Zhang, Weihua
A1 - Nethander, Maria
A1 - Cheng, Yu-Ching
A1 - Aslibekyan, Stella
A1 - Ang, Wei
A1 - Gandin, Ilaria
A1 - Yengo, Loic
A1 - Portas, Laura
A1 - Kooperberg, Charles
A1 - Hofer, Edith
A1 - Rajan, Kumar B
A1 - Schurmann, Claudia
A1 - den Hollander, Wouter
A1 - Ahluwalia, Tarunveer S
A1 - Zhao, Jing
A1 - Draisma, Harmen H M
A1 - Ford, Ian
A1 - Timpson, Nicholas
A1 - Teumer, Alexander
A1 - Huang, Hongyan
A1 - Wahl, Simone
A1 - Liu, Yongmei
A1 - Huang, Jie
A1 - Uh, Hae-Won
A1 - Geller, Frank
A1 - Joshi, Peter K
A1 - Yanek, Lisa R
A1 - Trabetti, Elisabetta
A1 - Lehne, Benjamin
A1 - Vozzi, Diego
A1 - Verbanck, Marie
A1 - Biino, Ginevra
A1 - Saba, Yasaman
A1 - Meulenbelt, Ingrid
A1 - O'Connell, Jeff R
A1 - Laakso, Markku
A1 - Giulianini, Franco
A1 - Magnusson, Patrik K E
A1 - Ballantyne, Christie M
A1 - Hottenga, Jouke Jan
A1 - Montgomery, Grant W
A1 - Rivadineira, Fernando
A1 - Rueedi, Rico
A1 - Steri, Maristella
A1 - Herzig, Karl-Heinz
A1 - Stott, David J
A1 - Menni, Cristina
A1 - Frånberg, Mattias
A1 - St Pourcain, Beate
A1 - Felix, Stephan B
A1 - Pers, Tune H
A1 - Bakker, Stephan J L
A1 - Kraft, Peter
A1 - Peters, Annette
A1 - Vaidya, Dhananjay
A1 - Delgado, Graciela
A1 - Smit, Johannes H
A1 - Großmann, Vera
A1 - Sinisalo, Juha
A1 - Seppälä, Ilkka
A1 - Williams, Stephen R
A1 - Holliday, Elizabeth G
A1 - Moed, Matthijs
A1 - Langenberg, Claudia
A1 - Räikkönen, Katri
A1 - Ding, Jingzhong
A1 - Campbell, Harry
A1 - Sale, Michèle M
A1 - Chen, Yii-der I
A1 - James, Alan L
A1 - Ruggiero, Daniela
A1 - Soranzo, Nicole
A1 - Hartman, Catharina A
A1 - Smith, Erin N
A1 - Berenson, Gerald S
A1 - Fuchsberger, Christian
A1 - Hernandez, Dena
A1 - Tiesler, Carla M T
A1 - Giedraitis, Vilmantas
A1 - Liewald, David
A1 - Fischer, Krista
A1 - Mellström, Dan
A1 - Larsson, Anders
A1 - Wang, Yunmei
A1 - Scott, William R
A1 - Lorentzon, Matthias
A1 - Beilby, John
A1 - Ryan, Kathleen A
A1 - Pennell, Craig E
A1 - Vuckovic, Dragana
A1 - Balkau, Beverly
A1 - Concas, Maria Pina
A1 - Schmidt, Reinhold
A1 - Mendes de Leon, Carlos F
A1 - Bottinger, Erwin P
A1 - Kloppenburg, Margreet
A1 - Paternoster, Lavinia
A1 - Boehnke, Michael
A1 - Musk, A W
A1 - Willemsen, Gonneke
A1 - Evans, David M
A1 - Madden, Pamela A F
A1 - Kähönen, Mika
A1 - Kutalik, Zoltán
A1 - Zoledziewska, Magdalena
A1 - Karhunen, Ville
A1 - Kritchevsky, Stephen B
A1 - Sattar, Naveed
A1 - Lachance, Genevieve
A1 - Clarke, Robert
A1 - Harris, Tamara B
A1 - Raitakari, Olli T
A1 - Attia, John R
A1 - van Heemst, Diana
A1 - Kajantie, Eero
A1 - Sorice, Rossella
A1 - Gambaro, Giovanni
A1 - Scott, Robert A
A1 - Hicks, Andrew A
A1 - Ferrucci, Luigi
A1 - Standl, Marie
A1 - Lindgren, Cecilia M
A1 - Starr, John M
A1 - Karlsson, Magnus
A1 - Lind, Lars
A1 - Li, Jun Z
A1 - Chambers, John C
A1 - Mori, Trevor A
A1 - de Geus, Eco J C N
A1 - Heath, Andrew C
A1 - Martin, Nicholas G
A1 - Auvinen, Juha
A1 - Buckley, Brendan M
A1 - de Craen, Anton J M
A1 - Waldenberger, Melanie
A1 - Strauch, Konstantin
A1 - Meitinger, Thomas
A1 - Scott, Rodney J
A1 - McEvoy, Mark
A1 - Beekman, Marian
A1 - Bombieri, Cristina
A1 - Ridker, Paul M
A1 - Mohlke, Karen L
A1 - Pedersen, Nancy L
A1 - Morrison, Alanna C
A1 - Boomsma, Dorret I
A1 - Whitfield, John B
A1 - Strachan, David P
A1 - Hofman, Albert
A1 - Vollenweider, Peter
A1 - Cucca, Francesco
A1 - Jarvelin, Marjo-Riitta
A1 - Jukema, J Wouter
A1 - Spector, Tim D
A1 - Hamsten, Anders
A1 - Zeller, Tanja
A1 - Uitterlinden, André G
A1 - Nauck, Matthias
A1 - Gudnason, Vilmundur
A1 - Qi, Lu
A1 - Grallert, Harald
A1 - Borecki, Ingrid B
A1 - Rotter, Jerome I
A1 - März, Winfried
A1 - Wild, Philipp S
A1 - Lokki, Marja-Liisa
A1 - Boyle, Michael
A1 - Salomaa, Veikko
A1 - Melbye, Mads
A1 - Eriksson, Johan G
A1 - Wilson, James F
A1 - Penninx, Brenda W J H
A1 - Becker, Diane M
A1 - Worrall, Bradford B
A1 - Gibson, Greg
A1 - Krauss, Ronald M
A1 - Ciullo, Marina
A1 - Zaza, Gianluigi
A1 - Wareham, Nicholas J
A1 - Oldehinkel, Albertine J
A1 - Palmer, Lyle J
A1 - Murray, Sarah S
A1 - Pramstaller, Peter P
A1 - Bandinelli, Stefania
A1 - Heinrich, Joachim
A1 - Ingelsson, Erik
A1 - Deary, Ian J
A1 - Mägi, Reedik
A1 - Vandenput, Liesbeth
A1 - van der Harst, Pim
A1 - Desch, Karl C
A1 - Kooner, Jaspal S
A1 - Ohlsson, Claes
A1 - Hayward, Caroline
A1 - Lehtimäki, Terho
A1 - Shuldiner, Alan R
A1 - Arnett, Donna K
A1 - Beilin, Lawrence J
A1 - Robino, Antonietta
A1 - Froguel, Philippe
A1 - Pirastu, Mario
A1 - Jess, Tine
A1 - Koenig, Wolfgang
A1 - Loos, Ruth J F
A1 - Evans, Denis A
A1 - Schmidt, Helena
A1 - Smith, George Davey
A1 - Slagboom, P Eline
A1 - Eiriksdottir, Gudny
A1 - Morris, Andrew P
A1 - Psaty, Bruce M
A1 - Tracy, Russell P
A1 - Nolte, Ilja M
A1 - Boerwinkle, Eric
A1 - Visvikis-Siest, Sophie
A1 - Reiner, Alex P
A1 - Gross, Myron
A1 - Bis, Joshua C
A1 - Franke, Lude
A1 - Franco, Oscar H
A1 - Benjamin, Emelia J
A1 - Chasman, Daniel I
A1 - Dupuis, Josée
A1 - Snieder, Harold
A1 - Dehghan, Abbas
A1 - Alizadeh, Behrooz Z
AB - C-reactive protein (CRP) is a sensitive biomarker of chronic low-grade inflammation and is associated with multiple complex diseases. The genetic determinants of chronic inflammation remain largely unknown, and the causal role of CRP in several clinical outcomes is debated. We performed two genome-wide association studies (GWASs), on HapMap and 1000 Genomes imputed data, of circulating amounts of CRP by using data from 88 studies comprising 204,402 European individuals. Additionally, we performed in silico functional analyses and Mendelian randomization analyses with several clinical outcomes. The GWAS meta-analyses of CRP revealed 58 distinct genetic loci (p < 5 × 10). After adjustment for body mass index in the regression analysis, the associations at all except three loci remained. The lead variants at the distinct loci explained up to 7.0% of the variance in circulating amounts of CRP. We identified 66 gene sets that were organized in two substantially correlated clusters, one mainly composed of immune pathways and the other characterized by metabolic pathways in the liver. Mendelian randomization analyses revealed a causal protective effect of CRP on schizophrenia and a risk-increasing effect on bipolar disorder. Our findings provide further insights into the biology of inflammation and could lead to interventions for treating inflammation and its clinical consequences.
VL - 103
IS - 5
ER -
TY - JOUR
T1 - A catalog of genetic loci associated with kidney function from analyses of a million individuals.
JF - Nat Genet
Y1 - 2019
A1 - Wuttke, Matthias
A1 - Li, Yong
A1 - Li, Man
A1 - Sieber, Karsten B
A1 - Feitosa, Mary F
A1 - Gorski, Mathias
A1 - Tin, Adrienne
A1 - Wang, Lihua
A1 - Chu, Audrey Y
A1 - Hoppmann, Anselm
A1 - Kirsten, Holger
A1 - Giri, Ayush
A1 - Chai, Jin-Fang
A1 - Sveinbjornsson, Gardar
A1 - Tayo, Bamidele O
A1 - Nutile, Teresa
A1 - Fuchsberger, Christian
A1 - Marten, Jonathan
A1 - Cocca, Massimiliano
A1 - Ghasemi, Sahar
A1 - Xu, Yizhe
A1 - Horn, Katrin
A1 - Noce, Damia
A1 - van der Most, Peter J
A1 - Sedaghat, Sanaz
A1 - Yu, Zhi
A1 - Akiyama, Masato
A1 - Afaq, Saima
A1 - Ahluwalia, Tarunveer S
A1 - Almgren, Peter
A1 - Amin, Najaf
A1 - Arnlöv, Johan
A1 - Bakker, Stephan J L
A1 - Bansal, Nisha
A1 - Baptista, Daniela
A1 - Bergmann, Sven
A1 - Biggs, Mary L
A1 - Biino, Ginevra
A1 - Boehnke, Michael
A1 - Boerwinkle, Eric
A1 - Boissel, Mathilde
A1 - Bottinger, Erwin P
A1 - Boutin, Thibaud S
A1 - Brenner, Hermann
A1 - Brumat, Marco
A1 - Burkhardt, Ralph
A1 - Butterworth, Adam S
A1 - Campana, Eric
A1 - Campbell, Archie
A1 - Campbell, Harry
A1 - Canouil, Mickaël
A1 - Carroll, Robert J
A1 - Catamo, Eulalia
A1 - Chambers, John C
A1 - Chee, Miao-Ling
A1 - Chee, Miao-Li
A1 - Chen, Xu
A1 - Cheng, Ching-Yu
A1 - Cheng, Yurong
A1 - Christensen, Kaare
A1 - Cifkova, Renata
A1 - Ciullo, Marina
A1 - Concas, Maria Pina
A1 - Cook, James P
A1 - Coresh, Josef
A1 - Corre, Tanguy
A1 - Sala, Cinzia Felicita
A1 - Cusi, Daniele
A1 - Danesh, John
A1 - Daw, E Warwick
A1 - de Borst, Martin H
A1 - De Grandi, Alessandro
A1 - de Mutsert, Renée
A1 - de Vries, Aiko P J
A1 - Degenhardt, Frauke
A1 - Delgado, Graciela
A1 - Demirkan, Ayse
A1 - Di Angelantonio, Emanuele
A1 - Dittrich, Katalin
A1 - Divers, Jasmin
A1 - Dorajoo, Rajkumar
A1 - Eckardt, Kai-Uwe
A1 - Ehret, Georg
A1 - Elliott, Paul
A1 - Endlich, Karlhans
A1 - Evans, Michele K
A1 - Felix, Janine F
A1 - Foo, Valencia Hui Xian
A1 - Franco, Oscar H
A1 - Franke, Andre
A1 - Freedman, Barry I
A1 - Freitag-Wolf, Sandra
A1 - Friedlander, Yechiel
A1 - Froguel, Philippe
A1 - Gansevoort, Ron T
A1 - Gao, He
A1 - Gasparini, Paolo
A1 - Gaziano, J Michael
A1 - Giedraitis, Vilmantas
A1 - Gieger, Christian
A1 - Girotto, Giorgia
A1 - Giulianini, Franco
A1 - Gögele, Martin
A1 - Gordon, Scott D
A1 - Gudbjartsson, Daniel F
A1 - Gudnason, Vilmundur
A1 - Haller, Toomas
A1 - Hamet, Pavel
A1 - Harris, Tamara B
A1 - Hartman, Catharina A
A1 - Hayward, Caroline
A1 - Hellwege, Jacklyn N
A1 - Heng, Chew-Kiat
A1 - Hicks, Andrew A
A1 - Hofer, Edith
A1 - Huang, Wei
A1 - Hutri-Kähönen, Nina
A1 - Hwang, Shih-Jen
A1 - Ikram, M Arfan
A1 - Indridason, Olafur S
A1 - Ingelsson, Erik
A1 - Ising, Marcus
A1 - Jaddoe, Vincent W V
A1 - Jakobsdottir, Johanna
A1 - Jonas, Jost B
A1 - Joshi, Peter K
A1 - Josyula, Navya Shilpa
A1 - Jung, Bettina
A1 - Kähönen, Mika
A1 - Kamatani, Yoichiro
A1 - Kammerer, Candace M
A1 - Kanai, Masahiro
A1 - Kastarinen, Mika
A1 - Kerr, Shona M
A1 - Khor, Chiea-Chuen
A1 - Kiess, Wieland
A1 - Kleber, Marcus E
A1 - Koenig, Wolfgang
A1 - Kooner, Jaspal S
A1 - Körner, Antje
A1 - Kovacs, Peter
A1 - Kraja, Aldi T
A1 - Krajcoviechova, Alena
A1 - Kramer, Holly
A1 - Krämer, Bernhard K
A1 - Kronenberg, Florian
A1 - Kubo, Michiaki
A1 - Kuhnel, Brigitte
A1 - Kuokkanen, Mikko
A1 - Kuusisto, Johanna
A1 - La Bianca, Martina
A1 - Laakso, Markku
A1 - Lange, Leslie A
A1 - Langefeld, Carl D
A1 - Lee, Jeannette Jen-Mai
A1 - Lehne, Benjamin
A1 - Lehtimäki, Terho
A1 - Lieb, Wolfgang
A1 - Lim, Su-Chi
A1 - Lind, Lars
A1 - Lindgren, Cecilia M
A1 - Liu, Jun
A1 - Liu, Jianjun
A1 - Loeffler, Markus
A1 - Loos, Ruth J F
A1 - Lucae, Susanne
A1 - Lukas, Mary Ann
A1 - Lyytikäinen, Leo-Pekka
A1 - Mägi, Reedik
A1 - Magnusson, Patrik K E
A1 - Mahajan, Anubha
A1 - Martin, Nicholas G
A1 - Martins, Jade
A1 - März, Winfried
A1 - Mascalzoni, Deborah
A1 - Matsuda, Koichi
A1 - Meisinger, Christa
A1 - Meitinger, Thomas
A1 - Melander, Olle
A1 - Metspalu, Andres
A1 - Mikaelsdottir, Evgenia K
A1 - Milaneschi, Yuri
A1 - Miliku, Kozeta
A1 - Mishra, Pashupati P
A1 - Mohlke, Karen L
A1 - Mononen, Nina
A1 - Montgomery, Grant W
A1 - Mook-Kanamori, Dennis O
A1 - Mychaleckyj, Josyf C
A1 - Nadkarni, Girish N
A1 - Nalls, Mike A
A1 - Nauck, Matthias
A1 - Nikus, Kjell
A1 - Ning, Boting
A1 - Nolte, Ilja M
A1 - Noordam, Raymond
A1 - O'Connell, Jeffrey
A1 - O'Donoghue, Michelle L
A1 - Olafsson, Isleifur
A1 - Oldehinkel, Albertine J
A1 - Orho-Melander, Marju
A1 - Ouwehand, Willem H
A1 - Padmanabhan, Sandosh
A1 - Palmer, Nicholette D
A1 - Palsson, Runolfur
A1 - Penninx, Brenda W J H
A1 - Perls, Thomas
A1 - Perola, Markus
A1 - Pirastu, Mario
A1 - Pirastu, Nicola
A1 - Pistis, Giorgio
A1 - Podgornaia, Anna I
A1 - Polasek, Ozren
A1 - Ponte, Belen
A1 - Porteous, David J
A1 - Poulain, Tanja
A1 - Pramstaller, Peter P
A1 - Preuss, Michael H
A1 - Prins, Bram P
A1 - Province, Michael A
A1 - Rabelink, Ton J
A1 - Raffield, Laura M
A1 - Raitakari, Olli T
A1 - Reilly, Dermot F
A1 - Rettig, Rainer
A1 - Rheinberger, Myriam
A1 - Rice, Kenneth M
A1 - Ridker, Paul M
A1 - Rivadeneira, Fernando
A1 - Rizzi, Federica
A1 - Roberts, David J
A1 - Robino, Antonietta
A1 - Rossing, Peter
A1 - Rudan, Igor
A1 - Rueedi, Rico
A1 - Ruggiero, Daniela
A1 - Ryan, Kathleen A
A1 - Saba, Yasaman
A1 - Sabanayagam, Charumathi
A1 - Salomaa, Veikko
A1 - Salvi, Erika
A1 - Saum, Kai-Uwe
A1 - Schmidt, Helena
A1 - Schmidt, Reinhold
A1 - Schöttker, Ben
A1 - Schulz, Christina-Alexandra
A1 - Schupf, Nicole
A1 - Shaffer, Christian M
A1 - Shi, Yuan
A1 - Smith, Albert V
A1 - Smith, Blair H
A1 - Soranzo, Nicole
A1 - Spracklen, Cassandra N
A1 - Strauch, Konstantin
A1 - Stringham, Heather M
A1 - Stumvoll, Michael
A1 - Svensson, Per O
A1 - Szymczak, Silke
A1 - Tai, E-Shyong
A1 - Tajuddin, Salman M
A1 - Tan, Nicholas Y Q
A1 - Taylor, Kent D
A1 - Teren, Andrej
A1 - Tham, Yih-Chung
A1 - Thiery, Joachim
A1 - Thio, Chris H L
A1 - Thomsen, Hauke
A1 - Thorleifsson, Gudmar
A1 - Toniolo, Daniela
A1 - Tönjes, Anke
A1 - Tremblay, Johanne
A1 - Tzoulaki, Ioanna
A1 - Uitterlinden, André G
A1 - Vaccargiu, Simona
A1 - van Dam, Rob M
A1 - van der Harst, Pim
A1 - van Duijn, Cornelia M
A1 - Velez Edward, Digna R
A1 - Verweij, Niek
A1 - Vogelezang, Suzanne
A1 - Völker, Uwe
A1 - Vollenweider, Peter
A1 - Waeber, Gérard
A1 - Waldenberger, Melanie
A1 - Wallentin, Lars
A1 - Wang, Ya Xing
A1 - Wang, Chaolong
A1 - Waterworth, Dawn M
A1 - Bin Wei, Wen
A1 - White, Harvey
A1 - Whitfield, John B
A1 - Wild, Sarah H
A1 - Wilson, James F
A1 - Wojczynski, Mary K
A1 - Wong, Charlene
A1 - Wong, Tien-Yin
A1 - Xu, Liang
A1 - Yang, Qiong
A1 - Yasuda, Masayuki
A1 - Yerges-Armstrong, Laura M
A1 - Zhang, Weihua
A1 - Zonderman, Alan B
A1 - Rotter, Jerome I
A1 - Bochud, Murielle
A1 - Psaty, Bruce M
A1 - Vitart, Veronique
A1 - Wilson, James G
A1 - Dehghan, Abbas
A1 - Parsa, Afshin
A1 - Chasman, Daniel I
A1 - Ho, Kevin
A1 - Morris, Andrew P
A1 - Devuyst, Olivier
A1 - Akilesh, Shreeram
A1 - Pendergrass, Sarah A
A1 - Sim, Xueling
A1 - Böger, Carsten A
A1 - Okada, Yukinori
A1 - Edwards, Todd L
A1 - Snieder, Harold
A1 - Stefansson, Kari
A1 - Hung, Adriana M
A1 - Heid, Iris M
A1 - Scholz, Markus
A1 - Teumer, Alexander
A1 - Köttgen, Anna
A1 - Pattaro, Cristian
KW - Chromosome Mapping
KW - European Continental Ancestry Group
KW - Genetic Association Studies
KW - Genetic Predisposition to Disease
KW - Genome-Wide Association Study
KW - Glomerular Filtration Rate
KW - Humans
KW - Inheritance Patterns
KW - Kidney Function Tests
KW - Phenotype
KW - Polymorphism, Single Nucleotide
KW - Quantitative Trait Loci
KW - Quantitative Trait, Heritable
KW - Renal Insufficiency, Chronic
KW - Uromodulin
AB - Chronic kidney disease (CKD) is responsible for a public health burden with multi-systemic complications. Through trans-ancestry meta-analysis of genome-wide association studies of estimated glomerular filtration rate (eGFR) and independent replication (n = 1,046,070), we identified 264 associated loci (166 new). Of these, 147 were likely to be relevant for kidney function on the basis of associations with the alternative kidney function marker blood urea nitrogen (n = 416,178). Pathway and enrichment analyses, including mouse models with renal phenotypes, support the kidney as the main target organ. A genetic risk score for lower eGFR was associated with clinically diagnosed CKD in 452,264 independent individuals. Colocalization analyses of associations with eGFR among 783,978 European-ancestry individuals and gene expression across 46 human tissues, including tubulo-interstitial and glomerular kidney compartments, identified 17 genes differentially expressed in kidney. Fine-mapping highlighted missense driver variants in 11 genes and kidney-specific regulatory variants. These results provide a comprehensive priority list of molecular targets for translational research.
VL - 51
IS - 6
ER -
TY - JOUR
T1 - Genetic architecture of subcortical brain structures in 38,851 individuals.
JF - Nat Genet
Y1 - 2019
A1 - Satizabal, Claudia L
A1 - Adams, Hieab H H
A1 - Hibar, Derrek P
A1 - White, Charles C
A1 - Knol, Maria J
A1 - Stein, Jason L
A1 - Scholz, Markus
A1 - Sargurupremraj, Muralidharan
A1 - Jahanshad, Neda
A1 - Roshchupkin, Gennady V
A1 - Smith, Albert V
A1 - Bis, Joshua C
A1 - Jian, Xueqiu
A1 - Luciano, Michelle
A1 - Hofer, Edith
A1 - Teumer, Alexander
A1 - van der Lee, Sven J
A1 - Yang, Jingyun
A1 - Yanek, Lisa R
A1 - Lee, Tom V
A1 - Li, Shuo
A1 - Hu, Yanhui
A1 - Koh, Jia Yu
A1 - Eicher, John D
A1 - Desrivières, Sylvane
A1 - Arias-Vasquez, Alejandro
A1 - Chauhan, Ganesh
A1 - Athanasiu, Lavinia
A1 - Rentería, Miguel E
A1 - Kim, Sungeun
A1 - Hoehn, David
A1 - Armstrong, Nicola J
A1 - Chen, Qiang
A1 - Holmes, Avram J
A1 - den Braber, Anouk
A1 - Kloszewska, Iwona
A1 - Andersson, Micael
A1 - Espeseth, Thomas
A1 - Grimm, Oliver
A1 - Abramovic, Lucija
A1 - Alhusaini, Saud
A1 - Milaneschi, Yuri
A1 - Papmeyer, Martina
A1 - Axelsson, Tomas
A1 - Ehrlich, Stefan
A1 - Roiz-Santiañez, Roberto
A1 - Kraemer, Bernd
A1 - Håberg, Asta K
A1 - Jones, Hannah J
A1 - Pike, G Bruce
A1 - Stein, Dan J
A1 - Stevens, Allison
A1 - Bralten, Janita
A1 - Vernooij, Meike W
A1 - Harris, Tamara B
A1 - Filippi, Irina
A1 - Witte, A Veronica
A1 - Guadalupe, Tulio
A1 - Wittfeld, Katharina
A1 - Mosley, Thomas H
A1 - Becker, James T
A1 - Doan, Nhat Trung
A1 - Hagenaars, Saskia P
A1 - Saba, Yasaman
A1 - Cuellar-Partida, Gabriel
A1 - Amin, Najaf
A1 - Hilal, Saima
A1 - Nho, Kwangsik
A1 - Mirza-Schreiber, Nazanin
A1 - Arfanakis, Konstantinos
A1 - Becker, Diane M
A1 - Ames, David
A1 - Goldman, Aaron L
A1 - Lee, Phil H
A1 - Boomsma, Dorret I
A1 - Lovestone, Simon
A1 - Giddaluru, Sudheer
A1 - Le Hellard, Stephanie
A1 - Mattheisen, Manuel
A1 - Bohlken, Marc M
A1 - Kasperaviciute, Dalia
A1 - Schmaal, Lianne
A1 - Lawrie, Stephen M
A1 - Agartz, Ingrid
A1 - Walton, Esther
A1 - Tordesillas-Gutierrez, Diana
A1 - Davies, Gareth E
A1 - Shin, Jean
A1 - Ipser, Jonathan C
A1 - Vinke, Louis N
A1 - Hoogman, Martine
A1 - Jia, Tianye
A1 - Burkhardt, Ralph
A1 - Klein, Marieke
A1 - Crivello, Fabrice
A1 - Janowitz, Deborah
A1 - Carmichael, Owen
A1 - Haukvik, Unn K
A1 - Aribisala, Benjamin S
A1 - Schmidt, Helena
A1 - Strike, Lachlan T
A1 - Cheng, Ching-Yu
A1 - Risacher, Shannon L
A1 - Pütz, Benno
A1 - Fleischman, Debra A
A1 - Assareh, Amelia A
A1 - Mattay, Venkata S
A1 - Buckner, Randy L
A1 - Mecocci, Patrizia
A1 - Dale, Anders M
A1 - Cichon, Sven
A1 - Boks, Marco P
A1 - Matarin, Mar
A1 - Penninx, Brenda W J H
A1 - Calhoun, Vince D
A1 - Chakravarty, M Mallar
A1 - Marquand, Andre F
A1 - Macare, Christine
A1 - Kharabian Masouleh, Shahrzad
A1 - Oosterlaan, Jaap
A1 - Amouyel, Philippe
A1 - Hegenscheid, Katrin
A1 - Rotter, Jerome I
A1 - Schork, Andrew J
A1 - Liewald, David C M
A1 - de Zubicaray, Greig I
A1 - Wong, Tien Yin
A1 - Shen, Li
A1 - Sämann, Philipp G
A1 - Brodaty, Henry
A1 - Roffman, Joshua L
A1 - de Geus, Eco J C
A1 - Tsolaki, Magda
A1 - Erk, Susanne
A1 - van Eijk, Kristel R
A1 - Cavalleri, Gianpiero L
A1 - van der Wee, Nic J A
A1 - McIntosh, Andrew M
A1 - Gollub, Randy L
A1 - Bulayeva, Kazima B
A1 - Bernard, Manon
A1 - Richards, Jennifer S
A1 - Himali, Jayandra J
A1 - Loeffler, Markus
A1 - Rommelse, Nanda
A1 - Hoffmann, Wolfgang
A1 - Westlye, Lars T
A1 - Valdés Hernández, Maria C
A1 - Hansell, Narelle K
A1 - van Erp, Theo G M
A1 - Wolf, Christiane
A1 - Kwok, John B J
A1 - Vellas, Bruno
A1 - Heinz, Andreas
A1 - Olde Loohuis, Loes M
A1 - Delanty, Norman
A1 - Ho, Beng-Choon
A1 - Ching, Christopher R K
A1 - Shumskaya, Elena
A1 - Singh, Baljeet
A1 - Hofman, Albert
A1 - van der Meer, Dennis
A1 - Homuth, Georg
A1 - Psaty, Bruce M
A1 - Bastin, Mark E
A1 - Montgomery, Grant W
A1 - Foroud, Tatiana M
A1 - Reppermund, Simone
A1 - Hottenga, Jouke-Jan
A1 - Simmons, Andrew
A1 - Meyer-Lindenberg, Andreas
A1 - Cahn, Wiepke
A1 - Whelan, Christopher D
A1 - van Donkelaar, Marjolein M J
A1 - Yang, Qiong
A1 - Hosten, Norbert
A1 - Green, Robert C
A1 - Thalamuthu, Anbupalam
A1 - Mohnke, Sebastian
A1 - Hulshoff Pol, Hilleke E
A1 - Lin, Honghuang
A1 - Jack, Clifford R
A1 - Schofield, Peter R
A1 - Mühleisen, Thomas W
A1 - Maillard, Pauline
A1 - Potkin, Steven G
A1 - Wen, Wei
A1 - Fletcher, Evan
A1 - Toga, Arthur W
A1 - Gruber, Oliver
A1 - Huentelman, Matthew
A1 - Davey Smith, George
A1 - Launer, Lenore J
A1 - Nyberg, Lars
A1 - Jönsson, Erik G
A1 - Crespo-Facorro, Benedicto
A1 - Koen, Nastassja
A1 - Greve, Douglas N
A1 - Uitterlinden, André G
A1 - Weinberger, Daniel R
A1 - Steen, Vidar M
A1 - Fedko, Iryna O
A1 - Groenewold, Nynke A
A1 - Niessen, Wiro J
A1 - Toro, Roberto
A1 - Tzourio, Christophe
A1 - Longstreth, William T
A1 - Ikram, M Kamran
A1 - Smoller, Jordan W
A1 - van Tol, Marie-Jose
A1 - Sussmann, Jessika E
A1 - Paus, Tomáš
A1 - Lemaître, Hervé
A1 - Schroeter, Matthias L
A1 - Mazoyer, Bernard
A1 - Andreassen, Ole A
A1 - Holsboer, Florian
A1 - Depondt, Chantal
A1 - Veltman, Dick J
A1 - Turner, Jessica A
A1 - Pausova, Zdenka
A1 - Schumann, Gunter
A1 - van Rooij, Daan
A1 - Djurovic, Srdjan
A1 - Deary, Ian J
A1 - McMahon, Katie L
A1 - Müller-Myhsok, Bertram
A1 - Brouwer, Rachel M
A1 - Soininen, Hilkka
A1 - Pandolfo, Massimo
A1 - Wassink, Thomas H
A1 - Cheung, Joshua W
A1 - Wolfers, Thomas
A1 - Martinot, Jean-Luc
A1 - Zwiers, Marcel P
A1 - Nauck, Matthias
A1 - Melle, Ingrid
A1 - Martin, Nicholas G
A1 - Kanai, Ryota
A1 - Westman, Eric
A1 - Kahn, René S
A1 - Sisodiya, Sanjay M
A1 - White, Tonya
A1 - Saremi, Arvin
A1 - van Bokhoven, Hans
A1 - Brunner, Han G
A1 - Völzke, Henry
A1 - Wright, Margaret J
A1 - van 't Ent, Dennis
A1 - Nöthen, Markus M
A1 - Ophoff, Roel A
A1 - Buitelaar, Jan K
A1 - Fernández, Guillén
A1 - Sachdev, Perminder S
A1 - Rietschel, Marcella
A1 - van Haren, Neeltje E M
A1 - Fisher, Simon E
A1 - Beiser, Alexa S
A1 - Francks, Clyde
A1 - Saykin, Andrew J
A1 - Mather, Karen A
A1 - Romanczuk-Seiferth, Nina
A1 - Hartman, Catharina A
A1 - DeStefano, Anita L
A1 - Heslenfeld, Dirk J
A1 - Weiner, Michael W
A1 - Walter, Henrik
A1 - Hoekstra, Pieter J
A1 - Nyquist, Paul A
A1 - Franke, Barbara
A1 - Bennett, David A
A1 - Grabe, Hans J
A1 - Johnson, Andrew D
A1 - Chen, Christopher
A1 - van Duijn, Cornelia M
A1 - Lopez, Oscar L
A1 - Fornage, Myriam
A1 - Wardlaw, Joanna M
A1 - Schmidt, Reinhold
A1 - DeCarli, Charles
A1 - De Jager, Philip L
A1 - Villringer, Arno
A1 - Debette, Stephanie
A1 - Gudnason, Vilmundur
A1 - Medland, Sarah E
A1 - Shulman, Joshua M
A1 - Thompson, Paul M
A1 - Seshadri, Sudha
A1 - Ikram, M Arfan
AB - Subcortical brain structures are integral to motion, consciousness, emotions and learning. We identified common genetic variation related to the volumes of the nucleus accumbens, amygdala, brainstem, caudate nucleus, globus pallidus, putamen and thalamus, using genome-wide association analyses in almost 40,000 individuals from CHARGE, ENIGMA and UK Biobank. We show that variability in subcortical volumes is heritable, and identify 48 significantly associated loci (40 novel at the time of analysis). Annotation of these loci by utilizing gene expression, methylation and neuropathological data identified 199 genes putatively implicated in neurodevelopment, synaptic signaling, axonal transport, apoptosis, inflammation/infection and susceptibility to neurological disorders. This set of genes is significantly enriched for Drosophila orthologs associated with neurodevelopmental phenotypes, suggesting evolutionarily conserved mechanisms. Our findings uncover novel biology and potential drug targets underlying brain development and disease.
VL - 51
IS - 11
ER -
TY - JOUR
T1 - Differential and shared genetic effects on kidney function between diabetic and non-diabetic individuals.
JF - Commun Biol
Y1 - 2022
A1 - Winkler, Thomas W
A1 - Rasheed, Humaira
A1 - Teumer, Alexander
A1 - Gorski, Mathias
A1 - Rowan, Bryce X
A1 - Stanzick, Kira J
A1 - Thomas, Laurent F
A1 - Tin, Adrienne
A1 - Hoppmann, Anselm
A1 - Chu, Audrey Y
A1 - Tayo, Bamidele
A1 - Thio, Chris H L
A1 - Cusi, Daniele
A1 - Chai, Jin-Fang
A1 - Sieber, Karsten B
A1 - Horn, Katrin
A1 - Li, Man
A1 - Scholz, Markus
A1 - Cocca, Massimiliano
A1 - Wuttke, Matthias
A1 - van der Most, Peter J
A1 - Yang, Qiong
A1 - Ghasemi, Sahar
A1 - Nutile, Teresa
A1 - Li, Yong
A1 - Pontali, Giulia
A1 - Günther, Felix
A1 - Dehghan, Abbas
A1 - Correa, Adolfo
A1 - Parsa, Afshin
A1 - Feresin, Agnese
A1 - de Vries, Aiko P J
A1 - Zonderman, Alan B
A1 - Smith, Albert V
A1 - Oldehinkel, Albertine J
A1 - De Grandi, Alessandro
A1 - Rosenkranz, Alexander R
A1 - Franke, Andre
A1 - Teren, Andrej
A1 - Metspalu, Andres
A1 - Hicks, Andrew A
A1 - Morris, Andrew P
A1 - Tönjes, Anke
A1 - Morgan, Anna
A1 - Podgornaia, Anna I
A1 - Peters, Annette
A1 - Körner, Antje
A1 - Mahajan, Anubha
A1 - Campbell, Archie
A1 - Freedman, Barry I
A1 - Spedicati, Beatrice
A1 - Ponte, Belen
A1 - Schöttker, Ben
A1 - Brumpton, Ben
A1 - Banas, Bernhard
A1 - Krämer, Bernhard K
A1 - Jung, Bettina
A1 - Åsvold, Bjørn Olav
A1 - Smith, Blair H
A1 - Ning, Boting
A1 - Penninx, Brenda W J H
A1 - Vanderwerff, Brett R
A1 - Psaty, Bruce M
A1 - Kammerer, Candace M
A1 - Langefeld, Carl D
A1 - Hayward, Caroline
A1 - Spracklen, Cassandra N
A1 - Robinson-Cohen, Cassianne
A1 - Hartman, Catharina A
A1 - Lindgren, Cecilia M
A1 - Wang, Chaolong
A1 - Sabanayagam, Charumathi
A1 - Heng, Chew-Kiat
A1 - Lanzani, Chiara
A1 - Khor, Chiea-Chuen
A1 - Cheng, Ching-Yu
A1 - Fuchsberger, Christian
A1 - Gieger, Christian
A1 - Shaffer, Christian M
A1 - Schulz, Christina-Alexandra
A1 - Willer, Cristen J
A1 - Chasman, Daniel I
A1 - Gudbjartsson, Daniel F
A1 - Ruggiero, Daniela
A1 - Toniolo, Daniela
A1 - Czamara, Darina
A1 - Porteous, David J
A1 - Waterworth, Dawn M
A1 - Mascalzoni, Deborah
A1 - Mook-Kanamori, Dennis O
A1 - Reilly, Dermot F
A1 - Daw, E Warwick
A1 - Hofer, Edith
A1 - Boerwinkle, Eric
A1 - Salvi, Erika
A1 - Bottinger, Erwin P
A1 - Tai, E-Shyong
A1 - Catamo, Eulalia
A1 - Rizzi, Federica
A1 - Guo, Feng
A1 - Rivadeneira, Fernando
A1 - Guilianini, Franco
A1 - Sveinbjornsson, Gardar
A1 - Ehret, Georg
A1 - Waeber, Gérard
A1 - Biino, Ginevra
A1 - Girotto, Giorgia
A1 - Pistis, Giorgio
A1 - Nadkarni, Girish N
A1 - Delgado, Graciela E
A1 - Montgomery, Grant W
A1 - Snieder, Harold
A1 - Campbell, Harry
A1 - White, Harvey D
A1 - Gao, He
A1 - Stringham, Heather M
A1 - Schmidt, Helena
A1 - Li, Hengtong
A1 - Brenner, Hermann
A1 - Holm, Hilma
A1 - Kirsten, Holgen
A1 - Kramer, Holly
A1 - Rudan, Igor
A1 - Nolte, Ilja M
A1 - Tzoulaki, Ioanna
A1 - Olafsson, Isleifur
A1 - Martins, Jade
A1 - Cook, James P
A1 - Wilson, James F
A1 - Halbritter, Jan
A1 - Felix, Janine F
A1 - Divers, Jasmin
A1 - Kooner, Jaspal S
A1 - Lee, Jeannette Jen-Mai
A1 - O'Connell, Jeffrey
A1 - Rotter, Jerome I
A1 - Liu, Jianjun
A1 - Xu, Jie
A1 - Thiery, Joachim
A1 - Arnlöv, Johan
A1 - Kuusisto, Johanna
A1 - Jakobsdottir, Johanna
A1 - Tremblay, Johanne
A1 - Chambers, John C
A1 - Whitfield, John B
A1 - Gaziano, John M
A1 - Marten, Jonathan
A1 - Coresh, Josef
A1 - Jonas, Jost B
A1 - Mychaleckyj, Josyf C
A1 - Christensen, Kaare
A1 - Eckardt, Kai-Uwe
A1 - Mohlke, Karen L
A1 - Endlich, Karlhans
A1 - Dittrich, Katalin
A1 - Ryan, Kathleen A
A1 - Rice, Kenneth M
A1 - Taylor, Kent D
A1 - Ho, Kevin
A1 - Nikus, Kjell
A1 - Matsuda, Koichi
A1 - Strauch, Konstantin
A1 - Miliku, Kozeta
A1 - Hveem, Kristian
A1 - Lind, Lars
A1 - Wallentin, Lars
A1 - Yerges-Armstrong, Laura M
A1 - Raffield, Laura M
A1 - Phillips, Lawrence S
A1 - Launer, Lenore J
A1 - Lyytikäinen, Leo-Pekka
A1 - Lange, Leslie A
A1 - Citterio, Lorena
A1 - Klaric, Lucija
A1 - Ikram, M Arfan
A1 - Ising, Marcus
A1 - Kleber, Marcus E
A1 - Francescatto, Margherita
A1 - Concas, Maria Pina
A1 - Ciullo, Marina
A1 - Piratsu, Mario
A1 - Orho-Melander, Marju
A1 - Laakso, Markku
A1 - Loeffler, Markus
A1 - Perola, Markus
A1 - de Borst, Martin H
A1 - Gögele, Martin
A1 - Bianca, Martina La
A1 - Lukas, Mary Ann
A1 - Feitosa, Mary F
A1 - Biggs, Mary L
A1 - Wojczynski, Mary K
A1 - Kavousi, Maryam
A1 - Kanai, Masahiro
A1 - Akiyama, Masato
A1 - Yasuda, Masayuki
A1 - Nauck, Matthias
A1 - Waldenberger, Melanie
A1 - Chee, Miao-Li
A1 - Chee, Miao-Ling
A1 - Boehnke, Michael
A1 - Preuss, Michael H
A1 - Stumvoll, Michael
A1 - Province, Michael A
A1 - Evans, Michele K
A1 - O'Donoghue, Michelle L
A1 - Kubo, Michiaki
A1 - Kähönen, Mika
A1 - Kastarinen, Mika
A1 - Nalls, Mike A
A1 - Kuokkanen, Mikko
A1 - Ghanbari, Mohsen
A1 - Bochud, Murielle
A1 - Josyula, Navya Shilpa
A1 - Martin, Nicholas G
A1 - Tan, Nicholas Y Q
A1 - Palmer, Nicholette D
A1 - Pirastu, Nicola
A1 - Schupf, Nicole
A1 - Verweij, Niek
A1 - Hutri-Kähönen, Nina
A1 - Mononen, Nina
A1 - Bansal, Nisha
A1 - Devuyst, Olivier
A1 - Melander, Olle
A1 - Raitakari, Olli T
A1 - Polasek, Ozren
A1 - Manunta, Paolo
A1 - Gasparini, Paolo
A1 - Mishra, Pashupati P
A1 - Sulem, Patrick
A1 - Magnusson, Patrik K E
A1 - Elliott, Paul
A1 - Ridker, Paul M
A1 - Hamet, Pavel
A1 - Svensson, Per O
A1 - Joshi, Peter K
A1 - Kovacs, Peter
A1 - Pramstaller, Peter P
A1 - Rossing, Peter
A1 - Vollenweider, Peter
A1 - van der Harst, Pim
A1 - Dorajoo, Rajkumar
A1 - Sim, Ralene Z H
A1 - Burkhardt, Ralph
A1 - Tao, Ran
A1 - Noordam, Raymond
A1 - Mägi, Reedik
A1 - Schmidt, Reinhold
A1 - de Mutsert, Renée
A1 - Rueedi, Rico
A1 - van Dam, Rob M
A1 - Carroll, Robert J
A1 - Gansevoort, Ron T
A1 - Loos, Ruth J F
A1 - Felicita, Sala Cinzia
A1 - Sedaghat, Sanaz
A1 - Padmanabhan, Sandosh
A1 - Freitag-Wolf, Sandra
A1 - Pendergrass, Sarah A
A1 - Graham, Sarah E
A1 - Gordon, Scott D
A1 - Hwang, Shih-Jen
A1 - Kerr, Shona M
A1 - Vaccargiu, Simona
A1 - Patil, Snehal B
A1 - Hallan, Stein
A1 - Bakker, Stephan J L
A1 - Lim, Su-Chi
A1 - Lucae, Susanne
A1 - Vogelezang, Suzanne
A1 - Bergmann, Sven
A1 - Corre, Tanguy
A1 - Ahluwalia, Tarunveer S
A1 - Lehtimäki, Terho
A1 - Boutin, Thibaud S
A1 - Meitinger, Thomas
A1 - Wong, Tien-Yin
A1 - Bergler, Tobias
A1 - Rabelink, Ton J
A1 - Esko, Tõnu
A1 - Haller, Toomas
A1 - Thorsteinsdottir, Unnur
A1 - Völker, Uwe
A1 - Foo, Valencia Hui Xian
A1 - Salomaa, Veikko
A1 - Vitart, Veronique
A1 - Giedraitis, Vilmantas
A1 - Gudnason, Vilmundur
A1 - Jaddoe, Vincent W V
A1 - Huang, Wei
A1 - Zhang, Weihua
A1 - Wei, Wen Bin
A1 - Kiess, Wieland
A1 - März, Winfried
A1 - Koenig, Wolfgang
A1 - Lieb, Wolfgang
A1 - Gào, Xīn
A1 - Sim, Xueling
A1 - Wang, Ya Xing
A1 - Friedlander, Yechiel
A1 - Tham, Yih-Chung
A1 - Kamatani, Yoichiro
A1 - Okada, Yukinori
A1 - Milaneschi, Yuri
A1 - Yu, Zhi
A1 - Stark, Klaus J
A1 - Stefansson, Kari
A1 - Böger, Carsten A
A1 - Hung, Adriana M
A1 - Kronenberg, Florian
A1 - Köttgen, Anna
A1 - Pattaro, Cristian
A1 - Heid, Iris M
KW - Creatinine
KW - Diabetes Mellitus
KW - Diabetic Nephropathies
KW - Genome-Wide Association Study
KW - Glomerular Filtration Rate
KW - Humans
KW - Kidney
AB - Reduced glomerular filtration rate (GFR) can progress to kidney failure. Risk factors include genetics and diabetes mellitus (DM), but little is known about their interaction. We conducted genome-wide association meta-analyses for estimated GFR based on serum creatinine (eGFR), separately for individuals with or without DM (n = 178,691, n = 1,296,113). Our genome-wide searches identified (i) seven eGFR loci with significant DM/noDM-difference, (ii) four additional novel loci with suggestive difference and (iii) 28 further novel loci (including CUBN) by allowing for potential difference. GWAS on eGFR among DM individuals identified 2 known and 27 potentially responsible loci for diabetic kidney disease. Gene prioritization highlighted 18 genes that may inform reno-protective drug development. We highlight the existence of DM-only and noDM-only effects, which can inform about the target group, if respective genes are advanced as drug targets. Largely shared effects suggest that most drug interventions to alter eGFR should be effective in DM and noDM.
VL - 5
IS - 1
ER -
TY - JOUR
T1 - X-chromosome and kidney function: evidence from a multi-trait genetic analysis of 908,697 individuals reveals sex-specific and sex-differential findings in genes regulated by androgen response elements.
JF - Nat Commun
Y1 - 2024
A1 - Scholz, Markus
A1 - Horn, Katrin
A1 - Pott, Janne
A1 - Wuttke, Matthias
A1 - Kühnapfel, Andreas
A1 - Nasr, M Kamal
A1 - Kirsten, Holger
A1 - Li, Yong
A1 - Hoppmann, Anselm
A1 - Gorski, Mathias
A1 - Ghasemi, Sahar
A1 - Li, Man
A1 - Tin, Adrienne
A1 - Chai, Jin-Fang
A1 - Cocca, Massimiliano
A1 - Wang, Judy
A1 - Nutile, Teresa
A1 - Akiyama, Masato
A1 - Åsvold, Bjørn Olav
A1 - Bansal, Nisha
A1 - Biggs, Mary L
A1 - Boutin, Thibaud
A1 - Brenner, Hermann
A1 - Brumpton, Ben
A1 - Burkhardt, Ralph
A1 - Cai, Jianwen
A1 - Campbell, Archie
A1 - Campbell, Harry
A1 - Chalmers, John
A1 - Chasman, Daniel I
A1 - Chee, Miao Ling
A1 - Chee, Miao Li
A1 - Chen, Xu
A1 - Cheng, Ching-Yu
A1 - Cifkova, Renata
A1 - Daviglus, Martha
A1 - Delgado, Graciela
A1 - Dittrich, Katalin
A1 - Edwards, Todd L
A1 - Endlich, Karlhans
A1 - Michael Gaziano, J
A1 - Giri, Ayush
A1 - Giulianini, Franco
A1 - Gordon, Scott D
A1 - Gudbjartsson, Daniel F
A1 - Hallan, Stein
A1 - Hamet, Pavel
A1 - Hartman, Catharina A
A1 - Hayward, Caroline
A1 - Heid, Iris M
A1 - Hellwege, Jacklyn N
A1 - Holleczek, Bernd
A1 - Holm, Hilma
A1 - Hutri-Kähönen, Nina
A1 - Hveem, Kristian
A1 - Isermann, Berend
A1 - Jonas, Jost B
A1 - Joshi, Peter K
A1 - Kamatani, Yoichiro
A1 - Kanai, Masahiro
A1 - Kastarinen, Mika
A1 - Khor, Chiea Chuen
A1 - Kiess, Wieland
A1 - Kleber, Marcus E
A1 - Körner, Antje
A1 - Kovacs, Peter
A1 - Krajcoviechova, Alena
A1 - Kramer, Holly
A1 - Krämer, Bernhard K
A1 - Kuokkanen, Mikko
A1 - Kähönen, Mika
A1 - Lange, Leslie A
A1 - Lash, James P
A1 - Lehtimäki, Terho
A1 - Li, Hengtong
A1 - Lin, Bridget M
A1 - Liu, Jianjun
A1 - Loeffler, Markus
A1 - Lyytikäinen, Leo-Pekka
A1 - Magnusson, Patrik K E
A1 - Martin, Nicholas G
A1 - Matsuda, Koichi
A1 - Milaneschi, Yuri
A1 - Mishra, Pashupati P
A1 - Mononen, Nina
A1 - Montgomery, Grant W
A1 - Mook-Kanamori, Dennis O
A1 - Mychaleckyj, Josyf C
A1 - März, Winfried
A1 - Nauck, Matthias
A1 - Nikus, Kjell
A1 - Nolte, Ilja M
A1 - Noordam, Raymond
A1 - Okada, Yukinori
A1 - Olafsson, Isleifur
A1 - Oldehinkel, Albertine J
A1 - Penninx, Brenda W J H
A1 - Perola, Markus
A1 - Pirastu, Nicola
A1 - Polasek, Ozren
A1 - Porteous, David J
A1 - Poulain, Tanja
A1 - Psaty, Bruce M
A1 - Rabelink, Ton J
A1 - Raffield, Laura M
A1 - Raitakari, Olli T
A1 - Rasheed, Humaira
A1 - Reilly, Dermot F
A1 - Rice, Kenneth M
A1 - Richmond, Anne
A1 - Ridker, Paul M
A1 - Rotter, Jerome I
A1 - Rudan, Igor
A1 - Sabanayagam, Charumathi
A1 - Salomaa, Veikko
A1 - Schneiderman, Neil
A1 - Schöttker, Ben
A1 - Sims, Mario
A1 - Snieder, Harold
A1 - Stark, Klaus J
A1 - Stefansson, Kari
A1 - Stocker, Hannah
A1 - Stumvoll, Michael
A1 - Sulem, Patrick
A1 - Sveinbjornsson, Gardar
A1 - Svensson, Per O
A1 - Tai, E-Shyong
A1 - Taylor, Kent D
A1 - Tayo, Bamidele O
A1 - Teren, Andrej
A1 - Tham, Yih-Chung
A1 - Thiery, Joachim
A1 - Thio, Chris H L
A1 - Thomas, Laurent F
A1 - Tremblay, Johanne
A1 - Tönjes, Anke
A1 - van der Most, Peter J
A1 - Vitart, Veronique
A1 - Völker, Uwe
A1 - Wang, Ya Xing
A1 - Wang, Chaolong
A1 - Wei, Wen Bin
A1 - Whitfield, John B
A1 - Wild, Sarah H
A1 - Wilson, James F
A1 - Winkler, Thomas W
A1 - Wong, Tien-Yin
A1 - Woodward, Mark
A1 - Sim, Xueling
A1 - Chu, Audrey Y
A1 - Feitosa, Mary F
A1 - Thorsteinsdottir, Unnur
A1 - Hung, Adriana M
A1 - Teumer, Alexander
A1 - Franceschini, Nora
A1 - Parsa, Afshin
A1 - Köttgen, Anna
A1 - Schlosser, Pascal
A1 - Pattaro, Cristian
KW - Androgens
KW - Chromosomes, Human, X
KW - Female
KW - Genetic Predisposition to Disease
KW - Genome-Wide Association Study
KW - Humans
KW - Kidney
KW - Male
KW - Polymorphism, Single Nucleotide
KW - Response Elements
KW - Tetraspanins
AB - X-chromosomal genetic variants are understudied but can yield valuable insights into sexually dimorphic human traits and diseases. We performed a sex-stratified cross-ancestry X-chromosome-wide association meta-analysis of seven kidney-related traits (n = 908,697), identifying 23 loci genome-wide significantly associated with two of the traits: 7 for uric acid and 16 for estimated glomerular filtration rate (eGFR), including four novel eGFR loci containing the functionally plausible prioritized genes ACSL4, CLDN2, TSPAN6 and the female-specific DRP2. Further, we identified five novel sex-interactions, comprising male-specific effects at FAM9B and AR/EDA2R, and three sex-differential findings with larger genetic effect sizes in males at DCAF12L1 and MST4 and larger effect sizes in females at HPRT1. All prioritized genes in loci showing significant sex-interactions were located next to androgen response elements (ARE). Five ARE genes showed sex-differential expressions. This study contributes new insights into sex-dimorphisms of kidney traits along with new prioritized gene targets for further molecular research.
VL - 15
IS - 1
ER -