@article {9374,
	title = {{Exome-Derived Adiponectin-Associated Variants Implicate Obesity and Lipid Biology},
	journal = {Am J Hum Genet},
	volume = {105},
	year = {2019},
	month = {Jul},
	pages = {15{\textendash}28},
	abstract = {) with at least one obesity or lipid trait. Candidate genes include PRKAR2A, PTH1R, and HDAC9, which have been suggested to play roles in adipocyte differentiation or bone marrow adipose tissue. Taken together, these findings provide further insights into the processes that influence circulating adiponectin levels.},
	author = {Spracklen, C. N. and Karaderi, T. and Yaghootkar, H. and Schurmann, C. and Fine, R. S. and Kutalik, Z. and Preuss, M. H. and Lu, Y. and Wittemans, L. B. L. and Adair, L. S. and Allison, M. and Amin, N. and Auer, P. L. and Bartz, T. M. and her, M. and Boehnke, M. and Borja, J. B. and Bork-Jensen, J. and Broer, L. and Chasman, D. I. and Chen, Y. I. and Chirstofidou, P. and Demirkan, A. and van Duijn, C. M. and Feitosa, M. F. and Garcia, M. E. and Graff, M. and Grallert, H. and Grarup, N. and Guo, X. and Haesser, J. and Hansen, T. and Harris, T. B. and Highland, H. M. and Hong, J. and Ikram, M. A. and Ingelsson, E. and Jackson, R. and Jousilahti, P. and nen, M. and Kizer, J. R. and Kovacs, P. and Kriebel, J. and Laakso, M. and Lange, L. A. and ki, T. and Li, J. and Li-Gao, R. and Lind, L. and Luan, J. and inen, L. P. and MacGregor, S. and Mackey, D. A. and Mahajan, A. and Mangino, M. and {\"o}, S. and McCarthy, M. I. and McKnight, B. and Medina-Gomez, C. and Meigs, J. B. and Molnos, S. and Mook-Kanamori, D. and Morris, A. P. and de Mutsert, R. and Nalls, M. A. and Nedeljkovic, I. and North, K. E. and Pennell, C. E. and Pradhan, A. D. and Province, M. A. and Raitakari, O. T. and Raulerson, C. K. and Reiner, A. P. and Ridker, P. M. and Ripatti, S. and Roberston, N. and Rotter, J. I. and Salomaa, V. and rate, A. A. and Sitlani, C. M. and Spector, T. D. and Strauch, K. and Stumvoll, M. and Taylor, K. D. and Thuesen, B. and njes, A. and Uitterlinden, A. G. and Venturini, C. and Walker, M. and Wang, C. A. and Wang, S. and Wareham, N. J. and Willems, S. M. and Willems van Dijk, K. and Wilson, J. G. and Wu, Y. and Yao, J. and Young, K. L. and Langenberg, C. and Frayling, T. M. and inen, T. O. and Lindgren, C. M. and Loos, R. J. F. and Mohlke, K. L.}
}
@article {9391,
	title = {{Exome-Derived Adiponectin-Associated Variants Implicate Obesity and Lipid Biology},
	journal = {Am J Hum Genet},
	volume = {105},
	year = {2019},
	month = {Sep},
	pages = {670{\textendash}671},
	author = {Spracklen, C. N. and Karaderi, T. and Yaghootkar, H. and Schurmann, C. and Fine, R. S. and Kutalik, Z. and Preuss, M. H. and Lu, Y. and Wittemans, L. B. L. and Adair, L. S. and Allison, M. and Amin, N. and Auer, P. L. and Bartz, T. M. and her, M. and Boehnke, M. and Borja, J. B. and Bork-Jensen, J. and Broer, L. and Chasman, D. I. and Chen, Y. I. and Chirstofidou, P. and Demirkan, A. and van Duijn, C. M. and Feitosa, M. F. and Garcia, M. E. and Graff, M. and Grallert, H. and Grarup, N. and Guo, X. and Haesser, J. and Hansen, T. and Harris, T. B. and Highland, H. M. and Hong, J. and Ikram, M. A. and Ingelsson, E. and Jackson, R. and Jousilahti, P. and nen, M. and Kizer, J. R. and Kovacs, P. and Kriebel, J. and Laakso, M. and Lange, L. A. and ki, T. and Li, J. and Li-Gao, R. and Lind, L. and Luan, J. and inen, L. P. and MacGregor, S. and Mackey, D. A. and Mahajan, A. and Mangino, M. and {\"o}, S. and McCarthy, M. I. and McKnight, B. and Medina-Gomez, C. and Meigs, J. B. and Molnos, S. and Mook-Kanamori, D. and Morris, A. P. and de Mutsert, R. and Nalls, M. A. and Nedeljkovic, I. and North, K. E. and Pennell, C. E. and Pradhan, A. D. and Province, M. A. and Raitakari, O. T. and Raulerson, C. K. and Reiner, A. P. and Ridker, P. M. and Ripatti, S. and Roberston, N. and Rotter, J. I. and Salomaa, V. and rate, A. A. and Sitlani, C. M. and Spector, T. D. and Strauch, K. and Stumvoll, M. and Taylor, K. D. and Thuesen, B. and njes, A. and Uitterlinden, A. G. and Venturini, C. and Walker, M. and Wang, C. A. and Wang, S. and Wareham, N. J. and Willems, S. M. and Willems van Dijk, K. and Wilson, J. G. and Wu, Y. and Yao, J. and Young, K. L. and Langenberg, C. and Frayling, T. M. and inen, T. O. and Lindgren, C. M. and Loos, R. J. F. and Mohlke, K. L.}
}
@article {8636,
	title = {{Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals},
	journal = {Nat Genet},
	volume = {52},
	year = {2020},
	month = {12},
	pages = {1314{\textendash}1332},
	abstract = {Genetic studies of blood pressure (BP) to date have mainly analyzed common variants (minor allele frequency > 0.05). In a meta-analysis of up to  1.3 million participants, we discovered 106 new BP-associated genomic regions and 87 rare (minor allele frequency {\^a}{\textperthousand}¤ 0.01) variant BP associations (P < 5 {\~A}{\textemdash} 10-8), of which 32 were in new BP-associated loci and 55 were independent BP-associated single-nucleotide variants within known BP-associated regions. Average effects of rare variants (44\% coding) were  8 times larger than common variant effects and indicate potential candidate causal genes at new and known loci (for example, GATA5 and PLCB3). BP-associated variants (including rare and common) were enriched in regions of active chromatin in fetal tissues, potentially linking fetal development with BP regulation in later life. Multivariable Mendelian randomization suggested possible inverse effects of elevated systolic and diastolic BP on large artery stroke. Our study demonstrates the utility of rare-variant analyses for identifying candidate genes and the results highlight potential therapeutic targets.},
	author = {Surendran, P. and Feofanova, E. V. and Lahrouchi, N. and Ntalla, I. and Karthikeyan, S. and Cook, J. and Chen, L. and Mifsud, B. and Yao, C. and Kraja, A. T. and Cartwright, J. H. and Hellwege, J. N. and Giri, A. and Tragante, V. and Thorleifsson, G. and Liu, D. J. and Prins, B. P. and Stewart, I. D. and Cabrera, C. P. and Eales, J. M. and Akbarov, A. and Auer, P. L. and Bielak, L. F. and Bis, J. C. and Braithwaite, V. S. and Brody, J. A. and Daw, E. W. and Warren, H. R. and Drenos, F. and Nielsen, S. F. and Faul, J. D. and Fauman, E. B. and Fava, C. and Ferreira, T. and Foley, C. N. and Franceschini, N. and Gao, H. and Giannakopoulou, O. and Giulianini, F. and Gudbjartsson, D. F. and Guo, X. and Harris, S. E. and Havulinna, A. S. and Helgadottir, A. and Huffman, J. E. and Hwang, S. J. and Kanoni, S. and Kontto, J. and Larson, M. G. and Li-Gao, R. and Lindstr?m, J. and Lotta, L. A. and Lu, Y. and Luan, J. and Mahajan, A. and Malerba, G. and Masca, N. G. D. and Mei, H. and Menni, C. and Mook-Kanamori, D. O. and Mosen-Ansorena, D. and M?ller-Nurasyid, M. and Par?, G. and Paul, D. S. and Perola, M. and Poveda, A. and Rauramaa, R. and Richard, M. and Richardson, T. G. and Sep?lveda, N. and Sim, X. and Smith, A. V. and Smith, J. A. and Staley, J. R. and Stan?kov?, A. and Sulem, P. and Th?riault, S. and Thorsteinsdottir, U. and Trompet, S. and Varga, T. V. and Velez Edwards, D. R. and Veronesi, G. and Weiss, S. and Willems, S. M. and Yao, J. and Young, R. and Yu, B. and Zhang, W. and Zhao, J. H. and Zhao, W. and Zhao, W. and Evangelou, E. and Aeschbacher, S. and Asllanaj, E. and Blankenberg, S. and Bonnycastle, L. L. and Bork-Jensen, J. and Brandslund, I. and Braund, P. S. and Burgess, S. and Cho, K. and Christensen, C. and Connell, J. and Mutsert, R. and Dominiczak, A. F. and D?rr, M. and Eiriksdottir, G. and Farmaki, A. E. and Gaziano, J. M. and Grarup, N. and Grove, M. L. and Hallmans, G. and Hansen, T. and Have, C. T. and Heiss, G. and J?rgensen, M. E. and Jousilahti, P. and Kajantie, E. and Kamat, M. and K?r?j?m?ki, A. and Karpe, F. and Koistinen, H. A. and Kovesdy, C. P. and Kuulasmaa, K. and Laatikainen, T. and Lannfelt, L. and Lee, I. T. and Lee, W. J. and Linneberg, A. and Martin, L. W. and Moitry, M. and Nadkarni, G. and Neville, M. J. and Palmer, C. N. A. and Papanicolaou, G. J. and Pedersen, O. and Peters, J. and Poulter, N. and Rasheed, A. and Rasmussen, K. L. and Rayner, N. W. and M?gi, R. and Renstr?m, F. and Rettig, R. and Rossouw, J. and Schreiner, P. J. and Sever, P. S. and Sigurdsson, E. L. and Skaaby, T. and Sun, Y. V. and Sundstrom, J. and Thorgeirsson, G. and Esko, T. and Trabetti, E. and Tsao, P. S. and Tuomi, T. and Turner, S. T. and Tzoulaki, I. and Vaartjes, I. and Vergnaud, A. C. and Willer, C. J. and Wilson, P. W. F. and Witte, D. R. and Yonova-Doing, E. and Zhang, H. and Aliya, N. and Almgren, P. and Amouyel, P. and Asselbergs, F. W. and Barnes, M. R. and Blakemore, A. I. and Boehnke, M. and Bots, M. L. and Bottinger, E. P. and Buring, J. E. and Chambers, J. C. and Chen, Y. I. and Chowdhury, R. and Conen, D. and Correa, A. and Davey Smith, G. and Boer, R. A. and Deary, I. J. and Dedoussis, G. and Deloukas, P. and Di Angelantonio, E. and Elliott, P. and Felix, S. B. and Ferri?res, J. and Ford, I. and Fornage, M. and Franks, P. W. and Franks, S. and Frossard, P. and Gambaro, G. and Gaunt, T. R. and Groop, L. and Gudnason, V. and Harris, T. B. and Hayward, C. and Hennig, B. J. and Herzig, K. H. and Ingelsson, E. and Tuomilehto, J. and J?rvelin, M. R. and Jukema, J. W. and Kardia, S. L. R. and Kee, F. and Kooner, J. S. and Kooperberg, C. and Launer, L. J. and Lind, L. and Loos, R. J. F. and Majumder, A. A. S. and Laakso, M. and McCarthy, M. I. and Melander, O. and Mohlke, K. L. and Murray, A. D. and Nordestgaard, B. G. and Orho-Melander, M. and Packard, C. J. and Padmanabhan, S. and Palmas, W. and Polasek, O. and Porteous, D. J. and Prentice, A. M. and Province, M. A. and Relton, C. L. and Rice, K. and Ridker, P. M. and Rolandsson, O. and Rosendaal, F. R. and Rotter, J. I. and Rudan, I. and Salomaa, V. and Samani, N. J. and Sattar, N. and Sheu, W. H. and Smith, B. H. and Soranzo, N. and Spector, T. D. and Starr, J. M. and Sebert, S. and Taylor, K. D. and Lakka, T. A. and Timpson, N. J. and Tobin, M. D. and van der Harst, P. and van der Meer, P. and Ramachandran, V. S. and Verweij, N. and Virtamo, J. and V?lker, U. and Weir, D. R. and Zeggini, E. and Charchar, F. J. and Wareham, N. J. and Langenberg, C. and Tomaszewski, M. and Butterworth, A. S. and Caulfield, M. J. and Danesh, J. and Edwards, T. L. and Holm, H. and Hung, A. M. and Lindgren, C. M. and Liu, C. and Manning, A. K. and Morris, A. P. and Morrison, A. C. and O{\textquoteright}Donnell, C. J. and Psaty, B. M. and Saleheen, D. and Stefansson, K. and Boerwinkle, E. and Chasman, D. I. and Levy, D. and Newton-Cheh, C. and Munroe, P. B. and Howson, J. M. M. and de Boer, R. A. and van der Harst, P. and van der Meer, P. and Verweij, N. and Butterworth, A. S. and Danesh, J. and Langenberg, C. and Deloukas, P. and McCarthy, M. I. and Franks, P. W. and Rolandsson, O. and Wareham, N. J. and Prins, B. P. and Zeggini, E. and Hellwege, J. N. and Giri, A. and Edwards, D. R. V. and Cho, K. and Gaziano, J. M. and Kovesdy, C. P. and Sun, Y. V. and Tsao, P. S. and Wilson, P. W. F. and Edwards, T. L. and Hung, A. M. and O{\textquoteright}Donnell, C. J.}
}
@article {8996,
	title = {{Whole-Genome Sequencing Association Analyses of Stroke and Its Subtypes in Ancestrally Diverse Populations From Trans-Omics for Precision Medicine Project},
	journal = {Stroke},
	volume = {53},
	year = {2022},
	month = {Mar},
	pages = {875{\textendash}885},
	abstract = {Stroke is the leading cause of death and long-term disability worldwide. Previous genome-wide association studies identified 51 loci associated with stroke (mostly ischemic) and its subtypes among predominantly European populations. Using whole-genome sequencing in ancestrally diverse populations from the Trans-Omics for Precision Medicine (TOPMed) Program, we aimed to identify novel variants, especially low-frequency or ancestry-specific variants, associated with all stroke, ischemic stroke and its subtypes (large artery, cardioembolic, and small vessel), and hemorrhagic stroke and its subtypes (intracerebral and subarachnoid).\ Whole-genome sequencing data were available for 6833 stroke cases and 27 116 controls, including 22 315 European, 7877 Black, 2616 Hispanic/Latino, 850 Asian, 54 Native American, and 237 other ancestry participants. In TOPMed, we performed single variant association analysis examining 40 million common variants and aggregated association analysis focusing on rare variants. We also combined TOPMed European populations with over 28 000 additional European participants from the UK BioBank genome-wide array data through meta-analysis.\ .\ We represent the first association analysis for stroke and its subtypes using whole-genome sequencing data from ancestrally diverse populations. While our findings suggest the potential benefits of combining whole-genome sequencing data with populations of diverse genetic backgrounds to identify possible low-frequency or ancestry-specific variants, they also highlight the need to increase genome coverage and sample sizes.},
	author = {Hu, Y. and Haessler, J. W. and Manansala, R. and Wiggins, K. L. and Moscati, A. and Beiser, A. and Heard-Costa, N. L. and Sarnowski, C. and Raffield, L. M. and Chung, J. and Marini, S. and Anderson, C. D. and Rosand, J. and Xu, H. and Sun, X. and Kelly, T. N. and Wong, Q. and Lange, L. A. and Rotter, J. I. and Correa, A. and Vasan, R. S. and Seshadri, S. and Rich, S. S. and Do, R. and Loos, R. J. F. and Longstreth, W. T. and Bis, J. C. and Psaty, B. M. and Tirschwell, D. L. and Assimes, T. L. and Silver, B. and Liu, S. and Jackson, R. and Wassertheil-Smoller, S. and Mitchell, B. D. and Fornage, M. and Auer, P. L. and Reiner, A. P. and Kooperberg, C.}
}
@article {9644,
	title = {{A genetic association study of circulating coagulation Factor VIII and von Willebrand Factor levels},
	journal = {Blood},
	year = {2024},
	month = {Feb},
	abstract = {10-9) at seven new loci for FVIII (ST3GAL4, CLEC4M, B3GNT2, ASGR1, F12, KNG1, and TREM1/NCR2) and one for VWF (B3GNT2). VWF, ABO, and STAB2 were associated with FVIII and VWF in gene-based analyses. Multi-phenotype analysis of FVIII and VWF identified another three new loci, including PDIA3. Silencing of B3GNT2 and the previously reported CD36 gene decreased release of FVIII by HLECs, while silencing of B3GNT2, CD36, and PDIA3 decreased release of VWF by HVECs. Mendelian randomization supports causal association of higher FVIII and VWF with increased risk of thrombotic outcomes. Seven new loci were identified for FVIII and one for VWF, with evidence supporting causal associations of FVIII and VWF with thrombotic outcomes. B3GNT2, CD36, and PDIA3 modulate the release of FVIII and/or VWF in vitro.},
	author = {de Vries, P. S. and Reventun, P. and Brown, M. R. and Heath, A. S. and Huffman, J. E. and Le, N. Q. and Bebo, A. and Brody, J. A. and Temprano-Sagrera, G. and Raffield, L. M. and Ozel, A. B. and Thibord, F. and Jain, D. and Lewis, J. P. and Rodriguez, B. A. T. and Pankratz, N. and Taylor, K. D. and Polasek, O. and Chen, M. H. and Yanek, L. R. and Carrasquilla, G. D. and Marioni, R. and Kleber, M. E. and t, D. A. and Yao, J. and Li-Gao, R. and Joshi, P. K. and Trompet, S. and Martinez-Perez, A. and Ghanbari, M. and Howard, T. E. and Reiner, A. P. and Arvanitis, M. and Ryan, K. A. and Bartz, T. M. and Rudan, I. and Faraday, N. and Linneberg, A. and Ekunwe, L. and Davies, G. and Delgado, G. E. and Suchon, P. and Guo, X. and Rosendaal, F. R. and Klaric, L. and Noordam, R. and van Rooij, F. and Curran, J. E. and Wheeler, M. M. and Osburn, W. O. and O{\textquoteright}Connell, J. R. and Boerwinkle, E. and Beswick, A. and Psaty, B. M. and Kolcic, I. and Souto, J. C. and Becker, L. C. and Hansen, T. and Doyle, M. F. and Harris, S. E. and Moissl, A. P. and Deleuze, J. F. and Rich, S. S. and van Hylckama Vlieg, A. and Campbell, H. and Stott, D. J. and Soria, J. M. and de Maat, M. P. M. and Almasy, L. and Brody, L. C. and Auer, P. L. and Mitchell, B. D. and Ben-Shlomo, Y. and Fornage, M. and Hayward, C. and Mathias, R. A. and inen, T. O. and Lange, L. A. and Cox, S. R. and rz, W. and Morange, P. E. and Rotter, J. I. and Mook-Kanamori, D. O. and Wilson, J. F. and van der Harst, P. and Jukema, J. W. and Ikram, M. A. and Blangero, J. and Kooperberg, C. and Desch, K. C. and Johnson, A. D. and Sabater-Lleal, M. and Lowenstein, C. J. and Smith, N. L. and Morrison, A. C.}
}
