TY - JOUR
T1 - Meta-analysis of exome array data identifies six novel genetic loci for lung function.
JF - Wellcome Open Res
Y1 - 2018
A1 - Jackson, Victoria E
A1 - Latourelle, Jeanne C
A1 - Wain, Louise V
A1 - Smith, Albert V
A1 - Grove, Megan L
A1 - Bartz, Traci M
A1 - Obeidat, Ma'en
A1 - Province, Michael A
A1 - Gao, Wei
A1 - Qaiser, Beenish
A1 - Porteous, David J
A1 - Cassano, Patricia A
A1 - Ahluwalia, Tarunveer S
A1 - Grarup, Niels
A1 - Li, Jin
A1 - Altmaier, Elisabeth
A1 - Marten, Jonathan
A1 - Harris, Sarah E
A1 - Manichaikul, Ani
A1 - Pottinger, Tess D
A1 - Li-Gao, Ruifang
A1 - Lind-Thomsen, Allan
A1 - Mahajan, Anubha
A1 - Lahousse, Lies
A1 - Imboden, Medea
A1 - Teumer, Alexander
A1 - Prins, Bram
A1 - Lyytikäinen, Leo-Pekka
A1 - Eiriksdottir, Gudny
A1 - Franceschini, Nora
A1 - Sitlani, Colleen M
A1 - Brody, Jennifer A
A1 - Bossé, Yohan
A1 - Timens, Wim
A1 - Kraja, Aldi
A1 - Loukola, Anu
A1 - Tang, Wenbo
A1 - Liu, Yongmei
A1 - Bork-Jensen, Jette
A1 - Justesen, Johanne M
A1 - Linneberg, Allan
A1 - Lange, Leslie A
A1 - Rawal, Rajesh
A1 - Karrasch, Stefan
A1 - Huffman, Jennifer E
A1 - Smith, Blair H
A1 - Davies, Gail
A1 - Burkart, Kristin M
A1 - Mychaleckyj, Josyf C
A1 - Bonten, Tobias N
A1 - Enroth, Stefan
A1 - Lind, Lars
A1 - Brusselle, Guy G
A1 - Kumar, Ashish
A1 - Stubbe, Beate
A1 - Kähönen, Mika
A1 - Wyss, Annah B
A1 - Psaty, Bruce M
A1 - Heckbert, Susan R
A1 - Hao, Ke
A1 - Rantanen, Taina
A1 - Kritchevsky, Stephen B
A1 - Lohman, Kurt
A1 - Skaaby, Tea
A1 - Pisinger, Charlotta
A1 - Hansen, Torben
A1 - Schulz, Holger
A1 - Polasek, Ozren
A1 - Campbell, Archie
A1 - Starr, John M
A1 - Rich, Stephen S
A1 - Mook-Kanamori, Dennis O
A1 - Johansson, Asa
A1 - Ingelsson, Erik
A1 - Uitterlinden, André G
A1 - Weiss, Stefan
A1 - Raitakari, Olli T
A1 - Gudnason, Vilmundur
A1 - North, Kari E
A1 - Gharib, Sina A
A1 - Sin, Don D
A1 - Taylor, Kent D
A1 - O'Connor, George T
A1 - Kaprio, Jaakko
A1 - Harris, Tamara B
A1 - Pederson, Oluf
A1 - Vestergaard, Henrik
A1 - Wilson, James G
A1 - Strauch, Konstantin
A1 - Hayward, Caroline
A1 - Kerr, Shona
A1 - Deary, Ian J
A1 - Barr, R Graham
A1 - de Mutsert, Renée
A1 - Gyllensten, Ulf
A1 - Morris, Andrew P
A1 - Ikram, M Arfan
A1 - Probst-Hensch, Nicole
A1 - Gläser, Sven
A1 - Zeggini, Eleftheria
A1 - Lehtimäki, Terho
A1 - Strachan, David P
A1 - Dupuis, Josée
A1 - Morrison, Alanna C
A1 - Hall, Ian P
A1 - Tobin, Martin D
A1 - London, Stephanie J
AB - Over 90 regions of the genome have been associated with lung function to date, many of which have also been implicated in chronic obstructive pulmonary disease. We carried out meta-analyses of exome array data and three lung function measures: forced expiratory volume in one second (FEV ), forced vital capacity (FVC) and the ratio of FEV to FVC (FEV /FVC). These analyses by the SpiroMeta and CHARGE consortia included 60,749 individuals of European ancestry from 23 studies, and 7,721 individuals of African Ancestry from 5 studies in the discovery stage, with follow-up in up to 111,556 independent individuals. We identified significant (P<2·8x10 ) associations with six SNPs: a nonsynonymous variant in , which is predicted to be damaging, three intronic SNPs ( and ) and two intergenic SNPs near to and Expression quantitative trait loci analyses found evidence for regulation of gene expression at three signals and implicated several genes, including and . Further interrogation of these loci could provide greater understanding of the determinants of lung function and pulmonary disease.

VL - 3
ER -