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51. Maternal Hyperlipidemia and the Risk of Preeclampsia: a Meta-Analysis

Author: Spracklen, Cassandra N., Smith, Caitlin J., Saftlas, Audrey F., Robinson, Jennifer G., and Ryckman, Kelli K.
Published: 2014
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52. The power of genetic diversity in genome-wide association studies of lipids

Author: Graham, Sarah E. Clarke, Shoa L. Wu, Kuan-Han H. Kanoni, Stavroula Zajac, Greg J. M. Ramdas, Shweta Surakka, Ida and Ntalla, Ioanna Vedantam, Sailaja Winkler, Thomas W. Locke, Adam E. Marouli, Eirini Hwang, Mi Yeong Han, Sohee and Narita, Akira Choudhury, Ananyo Bentley, Amy R. Ekoru, Kenneth Verma, Anurag Trivedi, Bhavi Martin, Hilary C. and Hunt, Karen A. Hui, Qin Klarin, Derek Zhu, Xiang and Thorleifsson, Gudmar Helgadottir, Anna Gudbjartsson, Daniel F. and Holm, Hilma Olafsson, Isleifur Akiyama, Masato Sakaue, Saori Terao, Chikashi Kanai, Masahiro Zhou, Wei and Brumpton, Ben M. Rasheed, Humaira Ruotsalainen, Sanni E. and Havulinna, Aki S. Veturi, Yogasudha Feng, QiPing Rosenthal, Elisabeth A. Lingren, Todd Pacheco, Jennifer Allen and Pendergrass, Sarah A. Haessler, Jeffrey Giulianini, Franco and Bradford, Yuki Miller, Jason E. Campbell, Archie Lin, Kuang and Millwood, Iona Y. Hindy, George Rasheed, Asif Faul, Jessica D. Zhao, Wei Weir, David R. Turman, Constance and Huang, Hongyan Graff, Mariaelisa Mahajan, Anubha Brown, Michael R. Zhang, Weihua Yu, Ketian Schmidt, Ellen M. and Pandit, Anita Gustafsson, Stefan Yin, Xianyong Luan, Jian'an and Zhao, Jing-Hua Matsuda, Fumihiko Jang, Hye-Mi Yoon, Kyungheon Medina-Gomez, Carolina Pitsillides, Achilleas and Hottenga, Jouke Jan Willemsen, Gonneke Wood, Andrew R. Ji, Yingji Gao, Zishan Haworth, Simon Mitchell, Ruth E. and Chai, Jin Fang Aadahl, Mette Yao, Jie Manichaikul, Ani and Warren, Helen R. Ramirez, Julia Bork-Jensen, Jette Karhus, Line L. Goel, Anuj Sabater-Lleal, Maria Noordam, Raymond and Sidore, Carlo Fiorillo, Edoardo McDaid, Aaron F. and Marques-Vidal, Pedro Wielscher, Matthias Trompet, Stella and Sattar, Naveed Mollehave, Line T. Thuesen, Betina H. Munz, Matthias Zeng, Lingyao Huang, Jianfeng Yang, Bin Poveda, Alaitz Kurbasic, Azra Lamina, Claudia Forer, Lukas and Scholz, Markus Galesloot, Tessel E. Bradfield, Jonathan P. and Daw, E. Warwick Zmuda, Joseph M. Mitchell, Jonathan S. and Fuchsberger, Christian Christensen, Henry Brody, Jennifer A. and Feitosa, Mary F. Wojczynski, Mary K. Preuss, Michael and Mangino, Massimo Christofidou, Paraskevi Verweij, Niek and Benjamins, Jan W. Engmann, Jorgen Kember, Rachel L. Slieker, Roderick C. Lo, Ken Sin Zilhao, Nuno R. Phuong Le and Kleber, Marcus E. Delgado, Graciela E. Huo, Shaofeng Ikeda, Daisuke D. Iha, Hiroyuki Yang, Jian Liu, Jun Leonard, Hampton L. Marten, Jonathan Schmidt, Borge Arendt, Marina and Smyth, Laura J. Canadas-Garre, Marisa Wang, Chaolong and Nakatochi, Masahiro Wong, Andrew Hutri-Kahonen, Nina Sim, Xueling Xia, Rui Huerta-Chagoya, Alicia Fernandez-Lopez, Juan Carlos Lyssenko, Valeriya Ahmed, Meraj Jackson, Anne U. and Irvin, Marguerite R. Oldmeadow, Christopher Kim, Han-Na and Ryu, Seungho Timmers, Paul R. H. J. Arbeeva, Liubov Dorajoo, Rajkumar Lange, Leslie A. Chai, Xiaoran Prasad, Gauri and Lores-Motta, Laura Pauper, Marc Long, Jirong Li, Xiaohui and Theusch, Elizabeth Takeuchi, Fumihiko Spracklen, Cassandra N. and Loukola, Anu Bollepalli, Sailalitha Warner, Sophie C. and Wang, Ya Xing Wei, Wen B. Nutile, Teresa Ruggiero, Daniela and Sung, Yun Ju Hung, Yi-Jen Chen, Shufeng Liu, Fangchao and Yang, Jingyun Kentistou, Katherine A. Gorski, Mathias and Brumat, Marco Meidtner, Karina Bielak, Lawrence F. Smith, Jennifer A. Hebbar, Prashantha Farmaki, Aliki-Eleni Hofer, Edith Lin, Maoxuan Xue, Chao Zhang, Jifeng Concas, Maria Pina Vaccargiu, Simona van der Most, Peter J. Pitkanen, Niina Cade, Brian E. Lee, Jiwon van Der Laan, Sander W. and Chitrala, Kumaraswamy Naidu Weiss, Stefan Zimmermann, Martina E. and Lee, Jong Young Choi, Hyeok Sun Nethander, Maria and Freitag-Wolf, Sandra Southam, Lorraine Rayner, Nigel W. and Wang, Carol A. Lin, Shih-Yi Wang, Jun-Sing Couture, Christian Lyytikainen, Leo-Pekka Nikus, Kjell and Cuellar-Partida, Gabriel Vestergaard, Henrik Hildalgo, Bertha and Giannakopoulou, Olga Cai, Qiuyin Obura, Morgan O. van Setten, Jessica Li, Xiaoyin Schwander, Karen Terzikhan, Natalie Shin, Jae Hun Jackson, Rebecca D. Reiner, Alexander P. Martin, Lisa Warsinger Chen, Zhengming Li, Liming and Highland, Heather M. Young, Kristin L. Kawaguchi, Takahisa and Thiery, Joachim Bis, Joshua C. Nadkarni, Girish N. Launer, Lenore J. Li, Huaixing Nalls, Mike A. Raitakari, Olli T. and Ichihara, Sahoko Wild, Sarah H. Nelson, Christopher P. and Campbell, Harry Jager, Susanne Nabika, Toru Al-Mulla, Fahd and Niinikoski, Harri Braund, Peter S. Kolcic, Ivana Kovacs, Peter Giardoglou, Tota Katsuya, Tomohiro Bhatti, Fatima and de Kleijn, Dominique de Borst, Gert J. Kim, Eung Kweon and Adams, Hieab H. H. Ikram, M. Arfan Zhu, Xiaofeng Asselbergs, Folkert W. Kraaijeveld, Adriaan O. Beulens, Joline W. J. and Shu, Xiao-Ou Rallidis, Loukianos S. Pedersen, Oluf Hansen, Torben Mitchell, Paul Hewitt, Alex W. Kahonen, Mika and Perusse, Louis Bouchard, Claude Tonjes, Anke Chen, Yii-Der Ida Pennell, Craig E. Mori, Trevor A. Lieb, Wolfgang and Franke, Andre Ohlsson, Claes Mellstrom, Dan Cho, Yoon Shin and Lee, Hyejin Yuan, Jian-Min Koh, Woon-Puay Rhee, Sang Youl Woo, Jeong-Taek Heid, Iris M. Stark, Klaus J. and Volzke, Henry Homuth, Georg Evans, Michele K. Zonderman, Alan B. Polasek, Ozren Pasterkamp, Gerard Hoefer, Imo E. and Redline, Susan Pahkala, Katja Oldehinkel, Albertine J. and Snieder, Harold Biino, Ginevra Schmidt, Reinhold Schmidt, Helena Chen, Y. Eugene Bandinelli, Stefania Dedoussis, George Thanaraj, Thangavel Alphonse Kardia, Sharon L. R. and Kato, Norihiro Schulze, Matthias B. Girotto, Giorgia Jung, Bettina Boger, Carsten A. Joshi, Peter K. Bennett, David A. and De Jager, Philip L. Lu, Xiangfeng Mamakou, Vasiliki and Brown, Morris Caulfield, Mark J. Munroe, Patricia B. Guo, Xiuqing Ciullo, Marina Jonas, Jost B. Samani, Nilesh J. and Kaprio, Jaakko Pajukanta, Paivi Adair, Linda S. Bechayda, Sonny Augustin de Silva, H. Janaka Wickremasinghe, Ananda R. and Krauss, Ronald M. Wu, Jer-Yuarn Zheng, Wei den Hollander, I, Anneke Bharadwaj, Dwaipayan Correa, Adolfo Wilson, James G. and Lind, Lars Heng, Chew-Kiat Nelson, Amanda E. Golightly, Yvonne M. Wilson, James F. Penninx, Brenda Kim, Hyung-Lae and Attia, John Scott, Rodney J. Rao, D. C. Arnett, Donna K. and Walker, Mark Koistinen, Heikki A. Chandak, Giriraj R. and Yajnik, Chittaranjan S. Mercader, Josep M. Tusie-Luna, Teresa and Aguilar-Salinas, Carlos A. Villalpando, Clicerio Gonzalez and Orozco, Lorena Fornage, Myriam Tai, E. Shyong van Dam, Rob M. Lehtimaki, Terho Chaturvedi, Nish Yokota, Mitsuhiro and Liu, Jianjun Reilly, Dermot F. McKnight, Amy Jayne Kee, Frank Jockel, Karl-Heinz McCarthy, I, Mark Palmer, Colin N. A. Vitart, Veronique Hayward, Caroline Simonsick, Eleanor and van Duijn, Cornelia M. Lu, Fan Qu, Jia Hishigaki, Haretsugu Lin, Xu Marz, Winfried Parra, Esteban J. Cruz, Miguel Gudnason, Vilmundur Tardif, Jean-Claude Lettre, Guillaume `t Hart, Leen M. Elders, Petra J. M. Damrauer, Scott M. Kumari, Meena Kivimaki, Mika van der Harst, Pim and Spector, Tim D. Loos, Ruth J. F. Province, Michael A. Psaty, Bruce M. Brandslund, Ivan Pramstaller, Peter P. Christensen, Kaare Ripatti, Samuli Widen, Elisabeth Hakonarson, Hakon and Grant, Struan F. A. Kiemeney, Lambertus A. L. M. de Graaf, Jacqueline Loeffler, Markus Kronenberg, Florian Gu, Dongfeng and Erdmann, Jeanette Schunkert, Heribert Franks, Paul W. and Linneberg, Allan Jukema, J. Wouter Khera, V, Amit Mannikko, Minna Jarvelin, Marjo-Riitta Kutalik, Zoltan Cucca, Francesco Mook-Kanamori, Dennis O. van Dijk, Ko Willems and Watkins, Hugh Strachan, David P. Grarup, Niels Sever, Peter and Poulter, Neil Rotter, I, Jerome Dantoft, Thomas M. and Karpe, Fredrik Neville, Matt J. Timpson, Nicholas J. Cheng, Ching-Yu Wong, Tien-Yin Khor, Chiea Chuen Sabanayagam, Charumathi Peters, Annette Gieger, Christian Hattersley, Andrew T. Pedersen, Nancy L. Magnusson, Patrik K. E. and Boomsma, I, Dorret de Geus, Eco J. C. Cupples, L. Adrienne and van Meurs, Joyce B. J. Ghanbari, Mohsen Rsen, Penny Gordon-La and Huang, Wei Kim, Young Jin Tabara, Yasuharu Wareham, Nicholas J. Langenberg, Claudia Zeggini, Eleftheria and Kuusisto, Johanna Laakso, Markku Ingelsson, Erik Abecasis, Goncalo Chambers, John C. Kooner, Jaspal S. de Vries, Paul S. Morrison, Alanna C. North, Kari E. Daviglus, Martha and Kraft, Peter Martin, Nicholas G. Whitfield, John B. Abbas, Shahid Saleheen, Danish Walters, Robin G. Holmes, V, Michael and Black, Corri Smith, Blair H. Justice, Anne E. Baras, Aris Buring, Julie E. Ridker, Paul M. Chasman, I, Daniel and Kooperberg, Charles Wei, Wei-Qi Jarvik, Gail P. Namjou, Bahram Hayes, M. Geoffrey Ritchie, Marylyn D. Jousilahti, Pekka Salomaa, Veikko Hveem, Kristian Asvold, Bjorn Olav and Kubo, Michiaki Kamatani, Yoichiro Okada, Yukinori Murakami, Yoshinori Thorsteinsdottir, Unnur Stefansson, Kari Ho, Yuk-Lam Lynch, Julie A. Rader, Daniel J. Tsao, Philip S. and Chang, Kyong-Mi Cho, Kelly O'Donnell, Christopher J. and Gaziano, John M. Wilson, Peter Rotimi, Charles N. and Hazelhurst, Scott Ramsay, Michele Trembath, Richard C. van Heel, David A. Tamiya, Gen Yamamoto, Masayuki Kim, Bong-Jo and Mohlke, Karen L. Frayling, Timothy M. Hirschhorn, Joel N. and Kathiresan, Sekar Boehnke, Michael Natarajan, Pradeep and Peloso, Gina M. Brown, Christopher D. Morris, Andrew P. and Assimes, Themistocles L. Deloukas, Panos Sun, V, Yan Willer, Cristen J.
Abstract: Increased blood lipid levels are heritable risk factors of cardiovascular disease with varied prevalence worldwide owing to different dietary patterns and medication use(1). Despite advances in prevention and treatment, in particular through reducing low-density lipoprotein cholesterol levels(2), heart disease remains the leading cause of death worldwide(3). Genome-wideassociation studies (GWAS) of blood lipid levels have led to important biological and clinical insights, as well as new drug targets, for cardiovascular disease. However, most previous GWAS(4-23) have been conducted in European ancestry populations and may have missed genetic variants that contribute to lipid-level variation in other ancestry groups. These include differences in allele frequencies, effect sizes and linkage-disequilibrium patterns(24). Here we conduct a multi-ancestry, genome-wide genetic discovery meta-analysis of lipid levels in approximately 1.65 million individuals, including 350,000 of non-European ancestries. We quantify the gain in studying non-European ancestries and provide evidence to support the expansion of recruitment of additional ancestries, even with relatively small sample sizes. We find that increasing diversity rather than studying additional individuals of European ancestry results in substantial improvements in fine-mapping functional variants and portability of polygenic prediction (evaluated in approximately 295,000 individuals from 7 ancestry groupings). Modest gains in the number of discovered loci and ancestry-specific variants were also achieved. As GWAS expand emphasis beyond the identification of genes and fundamental biology towards the use of genetic variants for preventive and precision medicine(25), we anticipate that increased diversity of participants will lead to more accurate and equitable(26) application of polygenic scores in clinical practice.
Published: 2021

53. Genetic studies of leptin concentrations implicate leptin in the regulation of early adiposity

Author: Admin, Ada, primary, Yaghootkar, Hanieh, primary, Zhang, Yiying, primary, Spracklen, Cassandra N, primary, Karaderi, Tugce, primary, Huang, Lam Opal, primary, Bradfield, Jonathan, primary, Schurmann, Claudia, primary, Fine, Rebecca S, primary, Preuss, Michael H, primary, Kutalik, Zoltan, primary, Wittemans, Laura BL, primary, Lu, Yingchang, primary, Metz, Sophia, primary, Willems, Sara M, primary, Li-Gao, Ruifang, primary, Grarup, Niels, primary, Wang, Shuai, primary, Molnos, Sophie, primary, Sandoval-Zárate, América A, primary, Nalls, Mike A, primary, Lange, Leslie A, primary, Haesser, Jeffrey, primary, Guo, Xiuqing, primary, Lyytikäinen, Leo-Pekka, primary, Feitosa, Mary F, primary, Sitlani, Colleen M, primary, Venturini, Cristina, primary, Mahajan, Anubha, primary, Kacprowski, Tim, primary, Wang, Carol A, primary, Chasman, Daniel I, primary, Amin, Najaf, primary, Broer, Linda, primary, Robertson, Neil, primary, Young, Kristin L, primary, Allison, Matthew, primary, Blüher, Matthias, primary, Borja, Judith B, primary, Bork-Jensen, Jette, primary, Carrasquilla, Germán D, primary, Christofidou, Paraskevi, primary, Demirkan, Ayse, primary, Doege, Claudia A, primary, Garcia, Melissa E, primary, Graff, Mariaelisa, primary, Guo, Kaiying, primary, Hakonarson, Hakon, primary, Hong, Jaeyoung, primary, Chen, Yii-Der Ida, primary, Jackson, Rebecca, primary, Jakupović, Hermina, primary, Jousilahti, Pekka, primary, Justice, Anne E, primary, Kähönen, Mika, primary, Kizer, Jorge R, primary, Kriebe, Jennifer, primary, LeDuc, Charles A, primary, Li, Jin, primary, Lind, Lars, primary, Luan, Jian’an, primary, Mackey, David, primary, Mangino, Massimo, primary, Männistö, Satu, primary, Carli, Jayne F Martin, primary, Medina-Gomez, Carolina, primary, Mook-Kanamori, Dennis O, primary, Morris, Andrew P, primary, Mutsert, Renée de, primary, Nauck, Matthias, primary, Nedeljkovic, Ivana, primary, Pennell, Craig E, primary, Pradhan, Arund D, primary, Psaty, Bruce M, primary, Raitakari, Olli T, primary, Scott, Robert A, primary, Skaaby, Tea, primary, Strauch, Konstantin, primary, Taylor, Kent D, primary, Teumer, Alexander, primary, Uitterlinden, Andre G, primary, Wu, Ying, primary, Yao, Jie, primary, Walker, Mark, primary, North, Kari E, primary, Kovacs, Peter, primary, Ikram, M. Arfan, primary, Duijn, Cornelia M van, primary, Ridker, Paul M, primary, Lye, Stephen, primary, Homuth, Georg, primary, Ingelsson, Erik, primary, Spector, Tim D, primary, McKnight, Barbara, primary, Province, Michael A, primary, Lehtimäki, Terho, primary, Adair, Linda S, primary, Rotter, Jerome I, primary, Reiner, Alexander P, primary, Wilson, James G, primary, Harris, Tamara B, primary, Ripatti, Samuli, primary, Grallert, Harald, primary, Meigs, James B, primary, Salomaa, Veikko, primary, Hansen, Torben, primary, Dijk, Ko Willems van, primary, Wareham, Nicholas J, primary, Grant, Struan FA, primary, Langenberg, Claudia, primary, Frayling, Timothy M, primary, Lindgren, Cecilia M, primary, Mohlke, Karen L, primary, Leibel, Rudolph L, primary, Loos, Ruth JF, primary, and Kilpeläinen, Tuomas O, primary
Published: 2020
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54. Adiponectin GWAS loci harboring extensive allelic heterogeneity exhibit distinct molecular consequences

Author: Spracklen, Cassandra N., primary, Iyengar, Apoorva K., additional, Vadlamudi, Swarooparani, additional, Raulerson, Chelsea K., additional, Jackson, Anne U., additional, Brotman, Sarah M., additional, Wu, Ying, additional, Cannon, Maren E., additional, Davis, James P., additional, Crain, Aaron T., additional, Currin, Kevin W., additional, Perrin, Hannah J., additional, Narisu, Narisu, additional, Stringham, Heather M., additional, Fuchsberger, Christian, additional, Locke, Adam E., additional, Welch, Ryan P., additional, Kuusisto, Johanna K., additional, Pajukanta, Päivi, additional, Scott, Laura J., additional, Li, Yun, additional, Collins, Francis S., additional, Boehnke, Michael, additional, Laakso, Markku, additional, and Mohlke, Karen L., additional
Published: 2020
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55. The Trans-Ancestral Genomic Architecture of Glycaemic Traits

Author: Chen, Ji, primary, Spracklen, Cassandra N., additional, Marenne, Gaëlle, additional, Varshney, Arushi, additional, Corbin, Laura J, additional, Luan, Jian’an, additional, Willems, Sara, additional, Wu, Ying, additional, Zhang, Xiaoshuai, additional, Horikoshi, Momoko, additional, Boutin, Thibaud S, additional, Mägi, Reedik, additional, Waage, Johannes, additional, Pitsilides, Achilleas, additional, Li-Gao, Ruifang, additional, Hang, Kei, additional, Yao, Jie, additional, Anasanti, Mila D, additional, Chu, Audrey Y, additional, Claringbould, Annique, additional, Heikkinen, Jani, additional, Hong, Jaeyoung, additional, Hottenga, Jouke-Jan, additional, Huo, Shaofeng, additional, Kaakinen, Marika A., additional, Louie, Tin, additional, März, Winfried, additional, Moreno-Macias, Hortensia, additional, Ndungu, Anne, additional, Nelson, Sarah C., additional, Nolte, Ilja M., additional, North, Kari, additional, Raulerson, Chelsea K., additional, Ray, Debashree, additional, Rohde, Rebecca, additional, Rybin, Denis, additional, Schurmann, Claudia, additional, Sim, Xueling, additional, Southam, Loz, additional, Stewart, Isobel, additional, Wang, Carol A., additional, Wang, Yujie, additional, Wu, Peitao, additional, Zhang, Weihua, additional, Ahluwalia, Tarunveer S., additional, Appel, Emil VR, additional, Bielak, Lawrence F., additional, Brody, Jennifer A., additional, Burtt, Noel P, additional, Cabrera, Claudia P, additional, Cade, Brian E, additional, Chai, Jin Fang, additional, Chai, Xiaoran, additional, Chang, Li-Ching, additional, Chen, Chien-Hsiun, additional, Chen, Brian H, additional, Chitrala, Kumaraswamy N, additional, Chiu, Yen-Feng, additional, de Haan, Hugoline G., additional, Delgado, Graciela E, additional, Demirkan, Ayse, additional, Duan, Qing, additional, Engmann, Jorgen, additional, Fatumo, Segun A, additional, Gayán, Javier, additional, Giulianini, Franco, additional, Gong, Jung Ho, additional, Gustafsson, Stefan, additional, Hai, Yang, additional, Hartwig, Fernando P, additional, He, Jing, additional, Heianza, Yoriko, additional, Huang, Tao, additional, Huerta-Chagoya, Alicia, additional, Hwang, Mi Yeong, additional, Jensen, Richard A., additional, Kawaguchi, Takahisa, additional, Kentistou, Katherine A, additional, Kim, Young Jin, additional, Kleber, Marcus E, additional, Kooner, Ishminder K, additional, Lai, Shuiqing, additional, Lange, Leslie A, additional, Langefeld, Carl D, additional, Lauzon, Marie, additional, Li, Man, additional, Ligthart, Symen, additional, Liu, Jun, additional, Loh, Marie, additional, Long, Jirong, additional, Lyssenko, Valeriya, additional, Mangino, Massimo, additional, Marzi, Carola, additional, Montasser, May E, additional, Nag, Abhishek, additional, Nakatochi, Masahiro, additional, Noce, Damia, additional, Noordam, Raymond, additional, Pistis, Giorgio, additional, Preuss, Michael, additional, Raffield, Laura, additional, Rasmussen-Torvik, Laura J., additional, Rich, Stephen S, additional, Robertson, Neil R, additional, Rueedi, Rico, additional, Ryan, Kathleen, additional, Sanna, Serena, additional, Saxena, Richa, additional, Schraut, Katharina E, additional, Sennblad, Bengt, additional, Setoh, Kazuya, additional, Smith, Albert V, additional, Southam, Lorraine, additional, Sparsø, Thomas, additional, Strawbridge, Rona J, additional, Takeuchi, Fumihiko, additional, Tan, Jingyi, additional, Trompet, Stella, additional, van den Akker, Erik, additional, Van der Most, Peter J, additional, Verweij, Niek, additional, Vogel, Mandy, additional, Wang, Heming, additional, Wang, Chaolong, additional, Wang, Nan, additional, Warren, Helen R, additional, Wen, Wanqing, additional, Wilsgaard, Tom, additional, Wong, Andrew, additional, Wood, Andrew R, additional, Xie, Tian, additional, Zafarmand, Mohammad Hadi, additional, Zhao, Jing-Hua, additional, Zhao, Wei, additional, Amin, Najaf, additional, Arzumanyan, Zorayr, additional, Astrup, Arne, additional, Bakker, Stephan JL, additional, Baldassarre, Damiano, additional, Beekman, Marian, additional, Bergman, Richard N, additional, Bertoni, Alain, additional, Blüher, Matthias, additional, Bonnycastle, Lori L., additional, Bornstein, Stefan R, additional, Bowden, Donald W, additional, Cai, Qiuyin, additional, Campbell, Archie, additional, Campbell, Harry, additional, Chang, Yi Cheng, additional, de Geus, Eco J.C., additional, Dehghan, Abbas, additional, Du, Shufa, additional, Eiriksdottir, Gudny, additional, Farmaki, Aliki Eleni, additional, Frånberg, Mattias, additional, Fuchsberger, Christian, additional, Gao, Yutang, additional, Gjesing, Anette P, additional, Goel, Anuj, additional, Han, Sohee, additional, Hartman, Catharina A, additional, Herder, Christian, additional, Hicks, Andrew A., additional, Hsieh, Chang-Hsun, additional, Hsueh, Willa A., additional, Ichihara, Sahoko, additional, Igase, Michiya, additional, Ikram, M. Arfan, additional, Johnson, W. Craig, additional, Jørgensen, Marit E, additional, Joshi, Peter K, additional, Kalyani, Rita R, additional, Kandeel, Fouad R., additional, Katsuya, Tomohiro, additional, Khor, Chiea Chuen, additional, Kiess, Wieland, additional, Kolcic, Ivana, additional, Kuulasmaa, Teemu, additional, Kuusisto, Johanna, additional, Läll, Kristi, additional, Lam, Kelvin, additional, Lawlor, Deborah A, additional, Lee, Nanette R., additional, Lemaitre, Rozenn N., additional, Li, Honglan, additional, Study, Lifelines Cohort, additional, Lin, Shih-Yi, additional, Lindström, Jaana, additional, Linneberg, Allan, additional, Liu, Jianjun, additional, Lorenzo, Carlos, additional, Matsubara, Tatsuaki, additional, Matsuda, Fumihiko, additional, Mingrone, Geltrude, additional, Mooijaart, Simon, additional, Moon, Sanghoon, additional, Nabika, Toru, additional, Nadkarni, Girish N., additional, Nadler, Jerry L., additional, Nelis, Mari, additional, Neville, Matthew J, additional, Norris, Jill M, additional, Ohyagi, Yasumasa, additional, Peters, Annette, additional, Peyser, Patricia A., additional, Polasek, Ozren, additional, Qi, Qibin, additional, Raven, Dennis, additional, Reilly, Dermot F, additional, Reiner, Alex, additional, Rivideneira, Fernando, additional, Roll, Kathryn, additional, Rudan, Igor, additional, Sabanayagam, Charumathi, additional, Sandow, Kevin, additional, Sattar, Naveed, additional, Schürmann, Annette, additional, Shi, Jinxiu, additional, Stringham, Heather M, additional, Taylor, Kent D., additional, Teslovich, Tanya M., additional, Thuesen, Betina, additional, Timmers, Paul RHJ, additional, Tremoli, Elena, additional, Tsai, Michael Y, additional, Uitterlinden, Andre, additional, van Dam, Rob M, additional, van Heemst, Diana, additional, van Hylckama Vlieg, Astrid, additional, Van Vliet-Ostaptchouk, Jana V, additional, Vangipurapu, Jagadish, additional, Vestergaard, Henrik, additional, Wang, Tao, additional, van Dijk, Ko Willems, additional, Xiang, Yongbing, additional, Zemunik, Tatijana, additional, Abecasis, Goncalo R, additional, Adair, Linda S., additional, Aguilar-Salinas, Carlos Alberto, additional, Alarcón-Riquelme, Marta E, additional, An, Ping, additional, Aviles-Santa, Larissa, additional, Becker, Diane M, additional, Beilin, Lawrence J, additional, Bergmann, Sven, additional, Bisgaard, Hans, additional, Black, Corri, additional, Boehnke, Michael, additional, Boerwinkle, Eric, additional, Böhm, Bernhard O, additional, Bønnelykke, Klaus, additional, Boomsma, D I., additional, Bottinger, Erwin P., additional, Buchanan, Thomas A, additional, Canouil, Mickaël, additional, Caulfield, Mark J, additional, Chambers, John C., additional, Chasman, Daniel I., additional, Chen, Yii-Der Ida, additional, Cheng, Ching-Yu, additional, Collins, Francis S., additional, Correa, Adolfo, additional, Cucca, Francesco, additional, de Silva, H. Janaka, additional, Dedoussis, George, additional, Elmståhl, Sölve, additional, Evans, Michele K., additional, Ferranni, Ele, additional, Ferruci, Luigi, additional, Florez, Jose C, additional, Franks, Paul, additional, Frayling, Timothy M, additional, Froguel, Philippe, additional, Gigante, Bruna, additional, Goodarzi, Mark O., additional, Gordon-Larsen, Penny, additional, Grallert, Harald, additional, Grarup, Niels, additional, Grimsgaard, Sameline, additional, Groop, Leif, additional, Gudnason, Vilmundur, additional, Guo, Xiuqing, additional, Hamsten, Anders, additional, Hansen, Torben, additional, Hayward, Caroline, additional, Heckbert, Susan R., additional, Horta, Bernardo L, additional, Huang, Wei, additional, Ingelsson, Erik, additional, James, Pankow S, additional, Jonas, Jost B, additional, Jukema, J. Wouter, additional, Kaleebu, Pontiano, additional, Kaplan, Robert, additional, Kardia, Sharon L.R., additional, Kato, Norihiro, additional, Keinanen-Kiukaanniemi, Sirkka M., additional, Kim, Bong-Jo, additional, Kivimaki, Mika, additional, Koistinen, Heikki A., additional, Kooner, Jaspal S., additional, Körner, Antje, additional, Kovacs, Peter, additional, Kuh, Diana, additional, Kumari, Meena, additional, Kutalik, Zoltan, additional, Laakso, Markku, additional, Lakka, Timo A., additional, Launer, Lenore J, additional, Leander, Karin, additional, Li, Huaixing, additional, Lin, Xu, additional, Lind, Lars, additional, Lindgren, Cecilia, additional, Liu, Simin, additional, Loos, Ruth J.F., additional, Magnusson, Patrik, additional, Mahajan, Anubha, additional, Metspalu, Andres, additional, Mook-Kanamori, Dennis O, additional, Mori, Trevor A, additional, Munroe, Patricia B, additional, Njølstad, Inger, additional, O’Connell, Jeffrey R, additional, Oldehinkel, Albertine J, additional, Ong, Ken K, additional, Padmanabhan, Sandosh, additional, Palmer, Colin N.A., additional, Palmer, Nicholette D, additional, Pedersen, Oluf, additional, Pennell, Craig E, additional, Porteous, David J, additional, Pramstaller, Peter P., additional, Province, Michael A., additional, Psaty, Bruce M., additional, Qi, Lu, additional, Raffel, Leslie J., additional, Rauramaa, Rainer, additional, Redline, Susan, additional, Ridker, Paul M, additional, Rosendaal, Frits R., additional, Saaristo, Timo E., additional, Sandhu, Manjinder, additional, Saramies, Jouko, additional, Schneiderman, Neil, additional, Schwarz, Peter, additional, Scott, Laura J., additional, Selvin, Elizabeth, additional, Sever, Peter, additional, Shu, Xiao-ou, additional, Slagboom, P Eline, additional, Small, Kerrin S, additional, Smith, Blair H, additional, Snieder, Harold, additional, Sofer, Tamar, additional, Sørensen, Thorkild I.A., additional, Spector, Tim D, additional, Stanton, Alice, additional, Steves, Claire J, additional, Stumvoll, Michael, additional, Sun, Liang, additional, Tabara, Yasuharu, additional, Tai, E Shyong, additional, Timpson, Nicholas J, additional, Tönjes, Anke, additional, Tuomilehto, Jaakko, additional, Tusie, Teresa, additional, Uusitupa, Matti, additional, van der Harst, Pim, additional, van Duijn, Cornelia, additional, Vitart, Veronique, additional, Vollenweider, Peter, additional, Vrijkotte, Tanja GM, additional, Wagenknecht, Lynne E, additional, Walker, Mark, additional, Wang, Ya X, additional, Wareham, Nick J, additional, Watanabe, Richard M, additional, Watkins, Hugh, additional, Wei, Wen B, additional, Wickremasinghe, Ananda R, additional, Willemsen, Gonneke, additional, Wilson, James F, additional, Wong, Tien-Yin, additional, Wu, Jer-Yuarn, additional, Xiang, Anny H, additional, Yanek, Lisa R, additional, Yengo, Loïc, additional, Yokota, Mitsuhiro, additional, Zeggini, Eleftheria, additional, Zheng, Wei, additional, Zonderman, Alan B, additional, Rotter, Jerome I, additional, Gloyn, Anna L, additional, McCarthy, Mark I., additional, Dupuis, Josée, additional, Meigs, James B, additional, Scott, Robert, additional, Prokopenko, Inga, additional, Leong, Aaron, additional, Liu, Ching-Ti, additional, Parker, Stephen CJ, additional, Mohlke, Karen L., additional, Langenberg, Claudia, additional, Wheeler, Eleanor, additional, Morris, Andrew P., additional, and Barroso, Inês, additional
Published: 2020
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56. Inferring Regulatory Networks From Mixed Observational Data Using Directed Acyclic Graphs

Author: Zhong, Wujuan, primary, Dong, Li, additional, Poston, Taylor B., additional, Darville, Toni, additional, Spracklen, Cassandra N., additional, Wu, Di, additional, Mohlke, Karen L., additional, Li, Yun, additional, Li, Quefeng, additional, and Zheng, Xiaojing, additional
Published: 2020
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57. A catalog of genetic loci associated with kidney function from analyses of a million individuals

Author: Wuttke, Matthias, Li, Yong, Li, Man, Sieber, Karsten B., Feitosa, Mary F., Gorski, Mathias, Tin, Adrienne, Wang, Lihua, Chu, Audrey Y., Hoppmann, Anselm, Kirsten, Holger, Giri, Ayush, Chai, Jin-Fang, Sveinbjornsson, Gardar, Tayo, Bamidele O., Nutile, Teresa, Fuchsberger, Christian, Marten, Jonathan, Cocca, Massimiliano, Ghasemi, Sahar, Xu, Yizhe, Horn, Katrin, Noce, Damia, van der Most, Peter J., Sedaghat, Sanaz, Yu, Zhi, Akiyama, Masato, Afaq, Saima, Ahluwalia, Tarunveer S., Almgren, Peter, Amin, Najaf, Ärnlöv, Johan, Bakker, Stephan J. L., Bansal, Nisha, Baptista, Daniela, Bergmann, Sven, Biggs, Mary L., Biino, Ginevra, Boehnke, Michael, Boerwinkle, Eric, Boissel, Mathilde, Bottinger, Erwin P., Boutin, Thibaud S., Brenner, Hermann, Brumat, Marco, Burkhardt, Ralph, Butterworth, Adam S., Campana, Eric, Campbell, Archie, Campbell, Harry, Canouil, Mickaël, Carroll, Robert J., Catamo, Eulalia, Chambers, John C., Chee, Miao-Ling, Chee, Miao-Li, Chen, Xu, Cheng, Ching-Yu, Cheng, Yurong, Christensen, Kaare, Cifkova, Renata, Ciullo, Marina, Pina Concas, Maria, Cook, James P., Coresh, Josef, Corre, Tanguy, Sala, Cinzia Felicita, Cusi, Daniele, Danesh, John, Daw, E. Warwick, de Borst, Martin H., De Grandi, Alessandro, de Mutsert, Renée, de Vries, Aiko P. J., Degenhardt, Frauke, Delgado, Graciela, Demirkan, Ayse, Di Angelantonio, Emanuele, Dittrich, Katalin, Divers, Jasmin, Dorajoo, Rajkumar, Eckardt, Kai-Uwe, Ehret, Georg, Elliott, Paul, Endlich, Karlhans, Evans, Michele K., Felix, Janine F., Foo, Valencia Hui Xian, Franco, Oscar H., Franke, Andre, Freedman, Barry I., Freitag-Wolf, Sandra, Friedlander, Yechiel, Froguel, Philippe, Gansevoort, Ron T., Gao, He, Gasparini, Paolo, Gaziano, J. Michael, Giedraitis, Vilmantas, Gieger, Christian, Girotto, Giorgia, Giulianini, Franco, Gögele, Martin, Gordon, Scott D., Gudbjartsson, Daniel F., Gudnason, Vilmundur, Haller, Toomas, Hamet, Pavel, Harris, Tamara B., Hartman, Catharina A., Hayward, Caroline, Hellwege, Jacklyn N., Heng, Chew-Kiat, Hickst, Andrew A., Hofer, Edith, Huang, Wei, Hutri-Kähönen, Nina, Hwang, Shih-Jen, ikram, M. Arfan, indridason, Olafur S., Ingelsson, Erik, ising, Marcus, Jaddoe, Vincent W. V., Jakobsdottir, Johanna, Jonas, Jost B, Joshi, Peter K., Shilpa Josyula, Navya, Jung, Bettina, Kähönen, Mika, Kamatani, Yoichiro, Kammerer, Candace M., Kanai, Masahiro, Kastarinen, Mika, Kerr, Shona M., Khor, Chiea-Chuen, Kiess, Wieland, Kleber, Marcus E., Koenig, Wolfgang, Kooner, Jaspal S., Körner, Antje, Kovacs, Peter, Kraja, Aldi T., Krajcoviechova, Alena, Kramer, Holly, Krämer, Bernhard K., Kronenberg, Florian, Kubo, Michiaki, Kühnel, Brigitte, Kuokkanen, Mikko, Kuusisto, Johanna, La Bianca, Martina, Laakso, Markku, Lange, Leslie A., Langefeld, Carl D., Jen-Mai Lee, Jeannette, Lehne, Benjamin, Lehtimäki, Terho, Lieb, Wolfgang, Cohort Study, Lifelines, Lim, Su-Chi, Lind, Lars, Lindgren, Cecilia M., Liu, Jun, Liu, Jianjun, Loeffler, Markus, Loos, Ruth J. F., Lucae, Susanne, Ann Lukas, Mary, Lyytikäinen, Leo-Pekka, Mägi, Reedik, Magnusson, Patrik K. E., Mahajan, Anubha, Martin, Nicholas G., Martins, Jade, März, Winfried, Mascalzoni, Deborah, Matsuda, Koichi, Christa Meisinger, Meitinger, Thomas, Melander, Olle, Metspalu, Andres, Mikaelsdottir, Evgenia K., Milaneschi, Yuri, Miliku, Kozeta, Mishra, Pashupati P., Veteran Program, V. A. Million, Mohlke, Karen L., Mononen, Nina, Montgomery, Grant W., Mook-Kanamori, Dennis O., Mychaleckyj, Josyf C., Nadkarni, Girish N, Nalls, Mike A., Nauck, Matthias, Nikus, Kjell, Ning, Boting, Nolte, ilja M., Noordam, Raymond, O’Connell, Jeffrey, O’Donoghue, Michelle L., Olafsson, Isleifur, Oldehinkel, Albertine J., Orho-Melander, Marju, Ouwehand, Willem H., Padmanabhan, Sandosh, Palmer, Nicholette D., Palsson, Runolfur, Penninx, Brenda W. J. H., Perls, Thomas, Perola, Markus, Pirastu, Mario, Pirastu, Nicola, Pistis, Giorgio, Podgornaia, Anna I., Polasek, Ozren, Ponte, Belen, Porteous, David J., Poulain, Tanja, Pramstaller, Peter P., Preuss, Michael H., Prins, Bram P., Province, Michael A., Rabelink, Ton J., Raffield, Laura M., Raitakari, Olli T., Reilly, Dermot F., Rettig, Rainer, Rheinberger, Myriam, Rice, Kenneth M., Ridker, Paul M., Rivadeneira, Fernando, Rizzi, Federica, Roberts, David J., Robino, Antonietta, Rossing, Peter, Rudan, Igor, Rueedi, Rico, Ruggiero, Daniela, Ryan, Kathleen A., Saba, Yasaman, Sabanayagam, Charumathi, Salomaa, Veikko, Salvi, Erika, Saum, Kai-Uwe, Schmidt, Helena, Schmidt, Reinhold, Schöttker, Ben, Schulz, Christina-Alexandra, Schupf, Nicole, Shaffer, Christian M., Shi, Yuan, Smith, Albert V., Smith, Blair H., Soranzo, Nicole, Spracklen, Cassandra N., Strauch, Konstantin, Stringham, Heather M., Stumvoll, Michael, Svensson, Per O., Szymczak, Silke, Tai, E-Shyong, Tajuddin, Salman M., Tan, Nicholas Y. Q., Taylor, Kent D., Teren, Andrej, Tham, Yih-Chung, Thiery, Joachim, Thio, Chris H. L., Thomsen, Hauke, Thorleifsson, Gudmar, Toniolo, Daniela, Tönjes, Anke, Tremblay, Johanne, Tzoulaki, Ioanna, Uitterlinden, André G., Vaccargiu, Simona, van Dam, Rob M., van der Harst, Pim, van Duijn, Cornelia M., Velez Edward, Digna R., Verweij, Niek, Vogelezang, suzanne, Völker, üwe, Vollenweider, Peter, Waeber, Gerard, Waldenberger, Melanie, Wallentin, Lars, Wang, Ya Xing, Wang, Chaolong, Waterworth, Dawn M., Bin Wei, Wen, White, Harvey, Whitfield, John B., Wild, Sarah H., Wilson, James F., Wojczynski, Mary K., Wong, Charlene, Wong, Tien-Yin, Xu, Liang, Yang, Qiong, Yasuda, Masayuki, Yerges-Armstrong, Laura M., Zhang, Weihua, Zonderman, Alan B., Rotter, Jerome I., Bochud, Murielle, Psaty, Bruce M., Vitart, Veronique, Wilson, James G., Dehghan, Abbas, Parsa, Afshin, Chasman, Daniel I., Ho, Kevin, Morris, Andrew P., Devuyst, Olivier, Akilesh, Shreeram, Pendergrass, Sarah A., Sim, Xueling, Böger, Carsten A., Okada, Yukinori, Edwards, Todd L., Snieder, Harold, Stefansson, Kari, Hung, Adriana M., Heid, Iris M., Markus Scholz, Teumer, Alexander, Köttgen, Anna, Pattaro, Cristian, Groningen Institute for Organ Transplantation (GIOT), Lifestyle Medicine (LM), Groningen Kidney Center (GKC), Cardiovascular Centre (CVC), Interdisciplinary Centre Psychopathology and Emotion regulation (ICPE), Life Course Epidemiology (LCE), Internal Medicine, Epidemiology, Erasmus MC other, Pediatrics, Psychiatry, APH - Mental Health, APH - Digital Health, Wuttke, M, Li, Y, Li, M, Sieber, Kb, Feitosa, Mf, Gorski, M, Tin, A, Wang, L, Chu, Ay, Hoppmann, A, Kirsten, H, Giri, A, Chai, Jf, Sveinbjornsson, G, Tayo, Bo, Nutile, T, Fuchsberger, C, Marten, J, Cocca, M, Ghasemi, S, Xu, Y, Horn, K, Noce, D, van der Most, Pj, Sedaghat, S, Yu, Z, Akiyama, M, Afaq, S, Ahluwalia, T, Almgren, P, Amin, N, Ärnlöv, J, Bakker, Sjl, Bansal, N, Baptista, D, Bergmann, S, Biggs, Ml, Biino, G, Boehnke, M, Boerwinkle, E, Boissel, M, Bottinger, Ep, Boutin, T, Brenner, H, Brumat, M, Burkhardt, R, Butterworth, A, Campana, Eric, Campbell, A, Campbell, H, Canouil, M, Carroll, Rj, Catamo, E, Chambers, Jc, Chee, Ml, Chen, X, Cheng, Cy, Cheng, Y, Christensen, K, Cifkova, R, Ciullo, M, Concas, Mp, Cook, Jp, Coresh, J, Corre, T, Sala, Cf, Cusi, D, Danesh, J, Daw, Ew, de Borst, Mh, De Grandi, A, de Mutsert, R, de Vries, Apj, Degenhardt, F, Delgado, G, Demirkan, A, Di Angelantonio, E, Dittrich, K, Divers, J, Dorajoo, R, Eckardt, Ku, Ehret, G, Elliott, P, Endlich, K, Evans, Mk, Felix, Jf, Foo, Vhx, Franco, Oh, Franke, A, Freedman, Bi, Freitag-Wolf, S, Friedlander, Y, Froguel, P, Gansevoort, Rt, Gao, H, Gasparini, P, Gaziano, Jm, Giedraitis, V, Gieger, C, Girotto, G, Giulianini, F, Gögele, M, Gordon, Sd, Gudbjartsson, Df, Gudnason, V, Haller, T, Hamet, P, Harris, Tb, Hartman, Ca, Hayward, C, Hellwege, Jn, Heng, Ck, Hicks, Aa, Hofer, E, Huang, W, Hutri-Kähönen, N, Hwang, Sj, Ikram, Ma, Indridason, O, Ingelsson, E, Ising, M, Jaddoe, Vwv, Jakobsdottir, J, Jonas, Jb, Joshi, Pk, Josyula, N, Jung, B, Kähönen, M, Kamatani, Y, Kammerer, Cm, Kanai, M, Kastarinen, M, Kerr, Sm, Khor, Cc, Kiess, W, Kleber, Me, Koenig, W, Kooner, J, Körner, A, Kovacs, P, Kraja, At, Krajcoviechova, A, Kramer, H, Krämer, Bk, Kronenberg, F, Kubo, M, Kühnel, B, Kuokkanen, M, Kuusisto, J, La Bianca, M, Laakso, M, Lange, La, Langefeld, Cd, Lee, Jj, Lehne, B, Lehtimäki, T, Lieb, W, Lifelines Cohort, Study, Lim, Sc, Lind, L, Lindgren, Cm, Liu, J, Loeffler, M, Loos, Rjf, Lucae, S, Lukas, Ma, Lyytikäinen, Lp, Mägi, R, Magnusson, Pke, Mahajan, A, Martin, Ng, Martins, J, März, W, Mascalzoni, D, Matsuda, K, Meisinger, C, Meitinger, T, Melander, O, Metspalu, A, Mikaelsdottir, Ek, Milaneschi, Y, Miliku, K, Mishra, Pp, V. A., Million Veteran Program, Mohlke, Kl, Mononen, N, Montgomery, Gw, Mook-Kanamori, Do, Mychaleckyj, Jc, Nadkarni, Gn, Nalls, Ma, Nauck, M, Nikus, K, Ning, B, Nolte, Im, Noordam, R, O'Connell, J, O'Donoghue, Ml, Olafsson, I, Oldehinkel, Aj, Orho-Melander, M, Ouwehand, Wh, Padmanabhan, S, Palmer, Nd, Palsson, R, Penninx, Bwjh, Perls, T, Perola, M, Pirastu, M, Pirastu, N, Pistis, G, Podgornaia, Ai, Polasek, O, Ponte, B, Porteous, Dj, Poulain, T, Pramstaller, Pp, Preuss, Mh, Prins, Bp, Province, Ma, Rabelink, Tj, Raffield, Lm, Raitakari, Ot, Reilly, Df, Rettig, R, Rheinberger, M, Rice, Km, Ridker, Pm, Rivadeneira, F, Rizzi, F, Roberts, Dj, Robino, A, Rossing, P, Rudan, I, Rueedi, R, Ruggiero, D, Ryan, Ka, Saba, Y, Sabanayagam, C, Salomaa, V, Salvi, E, Saum, Ku, Schmidt, H, Schmidt, R, Schöttker, B, Schulz, Ca, Schupf, N, Shaffer, Cm, Shi, Y, Smith, Av, Smith, Bh, Soranzo, N, Spracklen, Cn, Strauch, K, Stringham, Hm, Stumvoll, M, Svensson, Po, Szymczak, S, Tai, E, Tajuddin, Sm, Tan, Nyq, Taylor, Kd, Teren, A, Tham, Yc, Thiery, J, Thio, Chl, Thomsen, H, Thorleifsson, G, Toniolo, D, Tönjes, A, Tremblay, J, Tzoulaki, I, Uitterlinden, Ag, Vaccargiu, S, van Dam, Rm, van der Harst, P, van Duijn, Cm, Velez Edward, Dr, Verweij, N, Vogelezang, S, Völker, U, Vollenweider, P, Waeber, G, Waldenberger, M, Wallentin, L, Wang, Yx, Wang, C, Waterworth, Dm, Bin Wei, W, White, H, Whitfield, Jb, Wild, Sh, Wilson, Jf, Wojczynski, Mk, Wong, C, Wong, Ty, Xu, L, Yang, Q, Yasuda, M, Yerges-Armstrong, Lm, Zhang, W, Zonderman, Ab, Rotter, Ji, Bochud, M, Psaty, Bm, Vitart, V, Wilson, Jg, Dehghan, A, Parsa, A, Chasman, Di, Ho, K, Morris, Ap, Devuyst, O, Akilesh, S, Pendergrass, Sa, Sim, X, Böger, Ca, Okada, Y, Edwards, Tl, Snieder, H, Stefansson, K, Hung, Am, Heid, Im, Scholz, M, Teumer, A, Köttgen, A, and Pattaro, C.
Subjects: catalog, Inheritance Patterns, Hasso-Plattner-Institut für Digital Engineering GmbH, Genome-wide association study, Disease, Kidney Function Tests, Bioinformatics, DISEASE, 0302 clinical medicine, Uromodulin/urine, kidney function, 11 Medical and Health Sciences, Genetics & Heredity, ddc:616, 0303 health sciences, Kidney, Genome-wide association, HERITABILITY, GENOME-WIDE ASSOCIATION, COMMON VARIANTS, RENAL-FUNCTION, TRANS-EQTLS, METAANALYSIS, TRANSPORTER, CLASSIFICATION, INTEGRATION, Chromosome Mapping, 3. Good health, Phenotype, medicine.anatomical_structure, Medical genetics, Common variants, Renal function, Trans-EQTLS, Metaanalysis, Heritability, Transporter, Life Sciences & Biomedicine, Glomerular Filtration Rate, Metaanalysi, medicine.medical_specialty, Genotype, European Continental Ancestry Group, Quantitative Trait Loci, Common variant, Quantitative trait locus, Biology, Polymorphism, Single Nucleotide, Article, White People, V. A. Million Veteran Program, 03 medical and health sciences, Quantitative Trait, Heritable, Lifelines Cohort Study, Uromodulin, Genetics, medicine, Humans, Genetic Predisposition to Disease, Renal Insufficiency, Chronic, Genetic Association Studies, 030304 developmental biology, Genetic association, Science & Technology, urogenital system, association, genetic loci, 06 Biological Sciences, medicine.disease, Renal Insufficiency, Chronic/genetics/physiopathology/urine, Genetic Association Studies/methods, ddc:000, 030217 neurology & neurosurgery, Developmental Biology, Genome-Wide Association Study, Kidney disease
Abstract: 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.
Published: 2019
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58. SMIM1absence is associated with reduced energy expenditure and excess weight

Author: Stefanucci, Luca, Moslemi, Camous, Tomé, Ana R., Virtue, Samuel, Bidault, Guillaume, Gleadall, Nicholas S., Watson, Laura P.E., Kwa, Jing E., Burden, Frances, Farrow, Samantha, Banasik, Karina, Bay, Jakob, Boldsen, Jens Kjærgaard, Brodersen, Thorsten, Brunak, Søren, Burgdorf, Kristoffer, Chalmer, Mona Ameri, Didriksen, Maria, Dinh, Khoa Manh, Dowsett, Joseph, Erikstrup, Christian, Feenstra, Bjarke, Geller, Frank, Gudbjartsson, Daniel, Hansen, Thomas Folkmann, Hindhede, Lotte, Hjalgrim, Henrik, Jacobsen, Rikke Louise, Jemec, Gregor, Jensen, Bitten Aagaard, Kaspersen, Katrine, Kjerulff, Bertram Dalskov, Kogelman, Lisette, Hørup Larsen, Margit Anita, Louloudis, Ioannis, Lundgaard, Agnete, Susan, Mikkelsen, Christina, Nissen, Ioanna, Nyegaard, Mette, Ostrowski, Sisse Rye, Pedersen, Ole Birger, Henriksen, Alexander Pil, Rohde, Palle Duun, Rostgaard, Klaus, Schwinn, Michael, Stefansson, Kari, Stefánsson, Hreinn, Sørensen, Erik, þorsteinsdóttir, Unnur, Thørner, Lise Wegner, Bruun, Mie Topholm, Ullum, Henrik, Werge, Thomas, Westergaard, David, Chen, Ji, Chen, Ji, Spracklen, Cassandra N., Marenne, Gaëlle, Varshney, Arushi, Corbin, Laura J., Luan, Jian’an, Willems, Sara M., Wu, Ying, Zhang, Xiaoshuai, Horikoshi, Momoko, Boutin, Thibaud S., Mägi, Reedik, Waage, Johannes, Li-Gao, Ruifang, Katie Chan, Kei Hang, Yao, Jie, Anasanti, Mila D., Chu, Audrey Y., Claringbould, Annique, Heikkinen, Jani, Hong, Jaeyoung, Hottenga, Jouke-Jan, Huo, Shaofeng, Kaakinen, Marika A., Louie, Tin, März, Winfried, Moreno-Macias, Hortensia, Ndungu, Anne, Nelson, Sarah C., Nolte, Ilja M., North, Kari E., Raulerson, Chelsea K., Ray, Debashree, Rohde, Rebecca, Rybin, Denis, Schurmann, Claudia, Sim, Xueling, Southam, Loz, Stewart, Isobel D., Wang, Carol A., Wang, Yujie, Wu, Peitao, Zhang, Weihua, Ahluwalia, Tarunveer S., Appel, Emil V.R., Bielak, Lawrence F., Brody, Jennifer A., Burtt, Noël P., Cabrera, Claudia P., Cade, Brian E., Chai, Jin Fang, Chai, Xiaoran, Chang, Li-Ching, Chen, Chien-Hsiun, Chen, Brian H., Chitrala, Kumaraswamy Naidu, Chiu, Yen-Feng, de Haan, Hugoline G., Delgado, Graciela E., Demirkan, Ayse, Duan, Qing, Engmann, Jorgen, Fatumo, Segun A., Gayán, Javier, Giulianini, Franco, Gong, Jung Ho, Gustafsson, Stefan, Hai, Yang, Hartwig, Fernando P., He, Jing, Heianza, Yoriko, Huang, Tao, Huerta-Chagoya, Alicia, Hwang, Mi Yeong, Jensen, Richard A., Kawaguchi, Takahisa, Kentistou, Katherine A., Kim, Young Jin, Kleber, Marcus E., Kooner, Ishminder K., Lai, Shuiqing, Lange, Leslie A., Langefeld, Carl D., Lauzon, Marie, Li, Man, Ligthart, Symen, Liu, Jun, Loh, Marie, Long, Jirong, Lyssenko, Valeriya, Mangino, Massimo, Marzi, Carola, Montasser, May E., Nag, Abhishek, Nakatochi, Masahiro, Noce, Damia, Noordam, Raymond, Pistis, Giorgio, Preuss, Michael, Raffield, Laura, Rasmussen-Torvik, Laura J., Rich, Stephen S., Robertson, Neil R., Rueedi, Rico, Ryan, Kathleen, Sanna, Serena, Saxena, Richa, Schraut, Katharina E., Sennblad, Bengt, Setoh, Kazuya, Smith, Albert V., Southam, Lorraine, Sparsø, Thomas, Strawbridge, Rona J., Takeuchi, Fumihiko, Tan, Jingyi, Trompet, Stella, van den Akker, Erik, van der Most, Peter J., Verweij, Niek, Vogel, Mandy, Wang, Heming, Wang, Chaolong, Wang, Nan, Warren, Helen R., Wen, Wanqing, Wilsgaard, Tom, Wong, Andrew, Wood, Andrew R., Xie, Tian, Zafarmand, Mohammad Hadi, Zhao, Jing-Hua, Zhao, Wei, Amin, Najaf, Arzumanyan, Zorayr, Astrup, Arne, Bakker, Stephan J.L., Baldassarre, Damiano, Beekman, Marian, Bergman, Richard N., Bertoni, Alain, Blüher, Matthias, Bonnycastle, Lori L., Bornstein, Stefan R., Bowden, Donald W., Cai, Qiuyin, Campbell, Archie, Campbell, Harry, Chang, Yi Cheng, de Geus, Eco J.C., Dehghan, Abbas, Du, Shufa, Eiriksdottir, Gudny, Farmaki, Aliki Eleni, Frånberg, Mattias, Fuchsberger, Christian, Gao, Yutang, Gjesing, Anette P., Goel, Anuj, Han, Sohee, Hartman, Catharina A., Herder, Christian, Hicks, Andrew A., Hsieh, Chang-Hsun, Hsueh, Willa A., Ichihara, Sahoko, Igase, Michiya, Ikram, M. Arfan, Johnson, W. Craig, Jørgensen, Marit E., Joshi, Peter K., Kalyani, Rita R., Kandeel, Fouad R., Katsuya, Tomohiro, Khor, Chiea Chuen, Kiess, Wieland, Kolcic, Ivana, Kuulasmaa, Teemu, Kuusisto, Johanna, Läll, Kristi, Lam, Kelvin, Lawlor, Deborah A., Lee, Nanette R., Lemaitre, Rozenn N., Li, Honglan, Lin, Shih-Yi, Lindström, Jaana, Linneberg, Allan, Liu, Jianjun, Lorenzo, Carlos, Matsubara, Tatsuaki, Matsuda, Fumihiko, Mingrone, Geltrude, Mooijaart, Simon, Moon, Sanghoon, Nabika, Toru, Nadkarni, Girish N., Nadler, Jerry L., Nelis, Mari, Neville, Matt J., Norris, Jill M., Ohyagi, Yasumasa, Peters, Annette, Peyser, Patricia A., Polasek, Ozren, Qi, Qibin, Raven, Dennis, Reilly, Dermot F., Reiner, Alex, Rivideneira, Fernando, Roll, Kathryn, Rudan, Igor, Sabanayagam, Charumathi, Sandow, Kevin, Sattar, Naveed, Schürmann, Annette, Shi, Jinxiu, Stringham, Heather M., Taylor, Kent D., Teslovich, Tanya M., Thuesen, Betina, Timmers, Paul R.H.J., Tremoli, Elena, Tsai, Michael Y., Uitterlinden, Andre, van Dam, Rob M., van Heemst, Diana, van Hylckama Vlieg, Astrid, Van Vliet-Ostaptchouk, Jana V., Vangipurapu, Jagadish, Vestergaard, Henrik, Wang, Tao, Willems van Dijk, Ko, Zemunik, Tatijana, Abecasis, Goncalo R., Adair, Linda S., Aguilar-Salinas, Carlos Alberto, Alarcón-Riquelme, Marta E., An, Ping, Aviles-Santa, Larissa, Becker, Diane M., Beilin, Lawrence J., Bergmann, Sven, Bisgaard, Hans, Black, Corri, Boehnke, Michael, Boerwinkle, Eric, Böhm, Bernhard O., Bønnelykke, Klaus, Boomsma, D.I., Bottinger, Erwin P., Buchanan, Thomas A., Canouil, Mickaël, Caulfield, Mark J., Chambers, John C., Chasman, Daniel I., Ida Chen, Yii-Der, Cheng, Ching-Yu, Collins, Francis S., Correa, Adolfo, Cucca, Francesco, Janaka de Silva, H., Dedoussis, George, Elmståhl, Sölve, Evans, Michele K., Ferrannini, Ele, Ferrucci, Luigi, Florez, Jose C., Franks, Paul W., Frayling, Timothy M., Froguel, Philippe, Gigante, Bruna, Goodarzi, Mark O., Gordon-Larsen, Penny, Grallert, Harald, Grarup, Niels, Grimsgaard, Sameline, Groop, Leif, Gudnason, Vilmundur, Guo, Xiuqing, Hamsten, Anders, Hansen, Torben, Hayward, Caroline, Heckbert, Susan R., Horta, Bernardo L., Huang, Wei, Ingelsson, Erik, James, Pankow S., Jarvelin, Marjo-Ritta, Jonas, Jost B., Jukema, J. Wouter, Kaleebu, Pontiano, Kaplan, Robert, Kardia, Sharon L.R., Kato, Norihiro, Keinanen-Kiukaanniemi, Sirkka M., Kim, Bong-Jo, Kivimaki, Mika, Koistinen, Heikki A., Kooner, Jaspal S., Körner, Antje, Kovacs, Peter, Kuh, Diana, Kumari, Meena, Kutalik, Zoltan, Laakso, Markku, Lakka, Timo A., Launer, Lenore J., Leander, Karin, Li, Huaixing, Lin, Xu, Lind, Lars, Lindgren, Cecilia, Liu, Simin, Loos, Ruth J.F., Magnusson, Patrik K.E., Mahajan, Anubha, Metspalu, Andres, Mook-Kanamori, Dennis O., Mori, Trevor A., Munroe, Patricia B., Njølstad, Inger, O'Connell, Jeffrey R., Oldehinkel, Albertine J., Ong, Ken K., Padmanabhan, Sandosh, Palmer, Colin N.A., Palmer, Nicholette D., Pedersen, Oluf, Pennell, Craig E., Porteous, David J., Pramstaller, Peter P., Province, Michael A., Psaty, Bruce M., Qi, Lu, Raffel, Leslie J., Rauramaa, Rainer, Redline, Susan, Ridker, Paul M., Rosendaal, Frits R., Saaristo, Timo E., Sandhu, Manjinder, Saramies, Jouko, Schneiderman, Neil, Schwarz, Peter, Scott, Laura J., Selvin, Elizabeth, Sever, Peter, Shu, Xiao-Ou, Slagboom, P. Eline, Small, Kerrin S., Smith, Blair H., Snieder, Harold, Sofer, Tamar, Sørensen, Thorkild I.A., Spector, Tim D., Stanton, Alice, Steves, Claire J., Stumvoll, Michael, Sun, Liang, Tabara, Yasuharu, Tai, E. Shyong, Timpson, Nicholas J., Tönjes, Anke, Tuomilehto, Jaakko, Tusie, Teresa, Uusitupa, Matti, van der Harst, Pim, van Duijn, Cornelia, Vitart, Veronique, Vollenweider, Peter, Vrijkotte, Tanja G.M., Wagenknecht, Lynne E., Walker, Mark, Wang, Ya X., Wareham, Nick J., Watanabe, Richard M., Watkins, Hugh, Wei, Wen B., Wickremasinghe, Ananda R., Willemsen, Gonneke, Wilson, James F., Wong, Tien-Yin, Wu, Jer-Yuarn, Xiang, Anny H., Yanek, Lisa R., Yengo, Loïc, Yokota, Mitsuhiro, Zeggini, Eleftheria, Zheng, Wei, Zonderman, Alan B., Rotter, Jerome I., Gloyn, Anna L., McCarthy, Mark I., Dupuis, Josée, Meigs, James B., Scott, Robert A., Prokopenko, Inga, Leong, Aaron, Liu, Ching-Ti, Parker, Stephen C.J., Mohlke, Karen L., Langenberg, Claudia, Wheeler, Eleanor, Morris, Andrew P., Barroso, Inês, Võsa, Urmo, Burling, Keith, Walker, Lindsay, Ord, John, Barker, Peter, Warner, James, Frary, Amy, Renhstrom, Karola, Ashford, Sofie E., Piper, Jo, Biggs, Gail, Erber, Wendy N., Hoffman, Gary J., Schoenmakers, Nadia, Erikstrup, Christian, Rieneck, Klaus, Dziegiel, Morten H., Ullum, Henrik, Azzu, Vian, Vacca, Michele, Aparicio, Hugo Javier, Hui, Qin, Cho, Kelly, Sun, Yan V., Wilson, Peter W., Bayraktar, Omer A., Vidal-Puig, Antonio, Ostrowski, Sisse R., Astle, William J., Olsson, Martin L., Storry, Jill R., Pedersen, Ole B., Ouwehand, Willem H., Chatterjee, Krishna, Vuckovic, Dragana, and Frontini, Mattia
Abstract: Obesity rates have nearly tripled in the past 50 years, and by 2030 more than 1 billion individuals worldwide are projected to be obese. This creates a significant economic strain due to the associated non-communicable diseases. The root cause is an energy expenditure imbalance, owing to an interplay of lifestyle, environmental, and genetic factors. Obesity has a polygenic genetic architecture; however, single genetic variants with large effect size are etiological in a minority of cases. These variants allowed the discovery of novel genes and biology relevant to weight regulation and ultimately led to the development of novel specific treatments.
Published: 2024
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59. Correction: Exome-Derived Adiponectin-Associated Variants Implicate Obesity and Lipid Biology

Author: Spracklen, Cassandra N., Karaderi, Tugce, Yaghootkar, Hanieh, Schurmann, Claudia, Fine, Rebecca S., Kutalik, Zoltan, Preuss, Michael H., Lu, Yingchang, Wittemans, Laura B. L., Adair, Linda S., Allison, Matthew, Amin, Najaf, Auer, Paul L., Bartz, Traci M., Blüher, Matthias, Boehnke, Michael, Borja, Judith B., Bork-Jensen, Jette, Broer, Linda, Chasman, Daniel I., Chen, Yii-Der Ida, Chirstofidou, Paraskevi, Demirkan, Ayse, van Duijn, Cornelia M., Feitosa, Mary F., Garcia, Melissa E., Graff, Mariaelisa, Grallert, Harald, Grarup, Niels, Guo, Xiuqing, Haesser, Jeffrey, Hansen, Torben, Harris, Tamara B., Highland, Heather M., Hong, Jaeyoung, Ikram, M. Arfan, Ingelsson, Erik, Jackson, Rebecca, Jousilahti, Pekka, Kähönen, Mika, Kizer, Jorge R., Kovacs, Peter, Kriebel, Jennifer, Laakso, Markku, Lange, Leslie A., Lehtimäki, Terho, Li, Jin, Li-Gao, Ruifang, Lind, Lars, Luan, Jian'an, Lyytikäinen, Leo-Pekka, MacGregor, Stuart, Mackey, David A., Mahajan, Anubha, Mangino, Massimo, Männistö, Satu, McCarthy, Mark I., McKnight, Barbara, Medina-Gomez, Carolina, Meigs, James B., Molnos, Sophie, Mook-Kanamori, Dennis, Morris, Andrew P., de Mutsert, Renee, Nalls, Mike A., Nedeljkovic, Ivana, North, Kari E., Pennell, Craig E., Pradhan, Aruna D., Province, Michael A., Raitakari, Olli T., Raulerson, Chelsea K., Reiner, Alex P., Ridker, Paul M., Ripatti, Samuli, Roberston, Neil, Rotter, Jerome I., Salomaa, Veikko, Sandoval-Zárate, America A., Sitlani, Colleen M., Spector, Tim D., Strauch, Konstantin, Stumvoll, Michael, Taylor, Kent D., Thuesen, Betina, Tönjes, Anke, Uitterlinden, Andre G., Venturini, Cristina, Walker, Mark, Wang, Carol A., Wang, Shuai, Wareham, Nicholas J., Willems, Sara M., Willems van Dijk, Ko, Wilson, James G., Wu, Ying, Yao, Jie, Young, Kristin L., Langenberg, Claudia, Frayling, Timothy M., Kilpeläinen, Tuomas O., Lindgren, Cecilia M., Loos, Ruth J. F., and Mohlke, Karen L.
Subjects: SDG 3 - Good Health and Well-being
Published: 2019
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60. Trans-ethnic and ancestry-specific blood-cell genetics in 746,667 individuals from 5 global populations

Author: Chen, Ming-Huei, primary, Raffield, Laura M., additional, Mousas, Abdou, additional, Sakaue, Saori, additional, Huffman, Jennifer E., additional, Jiang, Tao, additional, Akbari, Parsa, additional, Vuckovic, Dragana, additional, Bao, Erik L., additional, Moscati, Arden, additional, Zhong, Xue, additional, Manansala, Regina, additional, Laplante, Véronique, additional, Chen, Minhui, additional, Lo, Ken Sin, additional, Qian, Huijun, additional, Lareau, Caleb A., additional, Beaudoin, Mélissa, additional, Akiyama, Masato, additional, Bartz, Traci M., additional, Ben-Shlomo, Yoav, additional, Beswick, Andrew, additional, Bork-Jensen, Jette, additional, Bottinger, Erwin P., additional, Brody, Jennifer A., additional, van Rooij, Frank J.A., additional, Chitrala, Kumaraswamynaidu, additional, Cho, Kelly, additional, Choquet, Hélène, additional, Correa, Adolfo, additional, Danesh, John, additional, Di Angelantonio, Emanuele, additional, Dimou, Niki, additional, Ding, Jingzhong, additional, Elliott, Paul, additional, Esko, Tõnu, additional, Evans, Michele K., additional, Floyd, James S., additional, Broer, Linda, additional, Grarup, Niels, additional, Guo, Michael H., additional, Greinacher, Andreas, additional, Haessler, Jeff, additional, Hansen, Torben, additional, Howson, Joanna M. M., additional, Huang, Wei, additional, Jorgenson, Eric, additional, Kacprowski, Tim, additional, Kähönen, Mika, additional, Kamatani, Yoichiro, additional, Kanai, Masahiro, additional, Karthikeyan, Savita, additional, Koskeridis, Fotis, additional, Lange, Leslie A., additional, Lehtimäki, Terho, additional, Lerch, Markus M., additional, Linneberg, Allan, additional, Liu, Yongmei, additional, Lyytikäinen, Leo-Pekka, additional, Manichaikul, Ani, additional, Matsuda, Koichi, additional, Mohlke, Karen L., additional, Mononen, Nina, additional, Murakami, Yoshinori, additional, Nadkarni, Girish N., additional, Nauck, Matthias, additional, Nikus, Kjell, additional, Ouwehand, Willem H., additional, Pankratz, Nathan, additional, Pedersen, Oluf, additional, Preuss, Michael, additional, Psaty, Bruce M., additional, Raitakari, Olli T., additional, Roberts, David J., additional, Rich, Stephen S., additional, Rodriguez, Benjamin A.T., additional, Rosen, Jonathan D., additional, Rotter, Jerome I., additional, Schubert, Petra, additional, Spracklen, Cassandra N., additional, Surendran, Praveen, additional, Tang, Hua, additional, Tardif, Jean-Claude, additional, Ghanbari, Mohsen, additional, Völker, Uwe, additional, Völzke, Henry, additional, Watkins, Nicholas A., additional, Zonderman, Alan B., additional, Million Veteran Program, VA, additional, Wilson, Peter W.F., additional, Li, Yun, additional, Butterworth, Adam S., additional, Gauchat, Jean-François, additional, Chiang, Charleston W.K., additional, Li, Bingshan, additional, Loos, Ruth J.F., additional, Astle, William J., additional, Evangelou, Evangelos, additional, Sankaran, Vijay G., additional, Okada, Yukinori, additional, Soranzo, Nicole, additional, Johnson, Andrew D., additional, Reiner, Alexander P., additional, Auer, Paul L., additional, and Lettre, Guillaume, additional
Published: 2020
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61. Identification of type 2 diabetes loci in 433,540 East Asian individuals

Author: Spracklen, Cassandra N, primary, Horikoshi, Momoko, additional, Kim, Young Jin, additional, Lin, Kuang, additional, Bragg, Fiona, additional, Moon, Sanghoon, additional, Suzuki, Ken, additional, Tam, Claudia HT, additional, Tabara, Yasuharu, additional, Kwak, Soo-Heon, additional, Takeuchi, Fumihiko, additional, Long, Jirong, additional, Lim, Victor JY, additional, Chai, Jin-Fang, additional, Chen, Chien-Hsiun, additional, Nakatochi, Masahiro, additional, Yao, Jie, additional, Sun Choi, Hyeok, additional, Iyengar, Apoorva K, additional, Perrin, Hannah J, additional, Brotman, Sarah M, additional, van de Bunt, Martijn, additional, Gloyn, Anna L, additional, Below, Jennifer E, additional, Boehnke, Michael, additional, Bowden, Donald W, additional, Chambers, John C, additional, Mahajan, Anubha, additional, McCarthy, Mark I, additional, Ng, Maggie CY, additional, Petty, Lauren E, additional, Zhang, Weihua, additional, Morris, Andrew P, additional, Adair, Linda S, additional, Bian, Zheng, additional, Chan, Juliana CN, additional, Chang, Li-Ching, additional, Chee, Miao-Li, additional, Ida Chen, Yii-Der, additional, Chen, Yuan-Tsong, additional, Chen, Zhengming, additional, Chuang, Lee-Ming, additional, Du, Shufa, additional, Gordon-Larsen, Penny, additional, Gross, Myron, additional, Guo, Xiuqing, additional, Guo, Yu, additional, Han, Sohee, additional, Howard, Annie-Green, additional, Huang, Wei, additional, Hung, Yi-Jen, additional, Yeong Hwang, Mi, additional, Hwu, Chii-Min, additional, Ichihara, Sahoko, additional, Isono, Masato, additional, Jang, Hye-Mi, additional, Jiang, Guozhi, additional, Jonas, Jost B, additional, Kamatani, Yoichiro, additional, Katsuya, Tomohiro, additional, Kawaguchi, Takahisa, additional, Khor, Chiea-Chuen, additional, Kohara, Katsuhiko, additional, Lee, Myung-Shik, additional, Lee, Nannette R, additional, Li, Liming, additional, Liu, Jianjun, additional, Luk, Andrea O, additional, Lv, Jun, additional, Okada, Yukinori, additional, Pereira, Mark A, additional, Sabanayagam, Charumathi, additional, Shi, Jinxiu, additional, Mun Shin, Dong, additional, Yee So, Wing, additional, Takahashi, Atsushi, additional, Tomlinson, Brian, additional, Tsai, Fuu-Jen, additional, van Dam, Rob M, additional, Xiang, Yong-Bing, additional, Yamamoto, Ken, additional, Yamauchi, Toshimasa, additional, Yoon, Kyungheon, additional, Yu, Canqing, additional, Yuan, Jian-Min, additional, Zhang, Liang, additional, Zheng, Wei, additional, Igase, Michiya, additional, Shin Cho, Yoon, additional, Rotter, Jerome I, additional, Wang, Ya-Xing, additional, Sheu, Wayne HH, additional, Yokota, Mitsuhiro, additional, Wu, Jer-Yuarn, additional, Cheng, Ching-Yu, additional, Wong, Tien-Yin, additional, Shu, Xiao-Ou, additional, Kato, Norihiro, additional, Park, Kyong-Soo, additional, Tai, E-Shyong, additional, Matsuda, Fumihiko, additional, Koh, Woon-Puay, additional, Ma, Ronald CW, additional, Maeda, Shiro, additional, Millwood, Iona Y, additional, Lee, Juyoung, additional, Kadowaki, Takashi, additional, Walters, Robin G, additional, Kim, Bong-Jo, additional, Mohlke, Karen L, additional, and Sim, Xueling, additional
Published: 2019
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62. Multi-SNP mediation intersection-union test

Author: Zhong, Wujuan, primary, Spracklen, Cassandra N, additional, Mohlke, Karen L, additional, Zheng, Xiaojing, additional, Fine, Jason, additional, and Li, Yun, additional
Published: 2019
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63. Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels

Author: Tin, Adrienne, Marten, Jonathan, Kuhns, Victoria L. Halperin, Li, Yong, Wuttke, Matthias, Kirsten, Holger, Sieber, Karsten B., Qiu, Chengxiang, Gorski, Mathias, Yu, Zhi, Giri, Ayush, Sveinbjornsson, Gardar, Li, Man, Chu, Audrey Y., Hoppmann, Anselm, O'Connor, Luke J., Prins, Bram, Nutile, Teresa, Noce, Damia, Akiyama, Masato, Cocca, Massimiliano, Ghasemi, Sahar, van Der Most, Peter J., Horn, Katrin, Xu, Yizhe, Fuchsberger, Christian, Sedaghat, Sanaz, Afaq, Saima, Amin, Najaf, Arnlov, Johan, Bakker, Stephan J. L., Bansal, Nisha, Baptista, Daniela, Bergmann, Sven, Biggs, Mary L., Biino, Ginevra, Boerwinkle, Eric, Bottinger, Erwin P., Boutin, Thibaud S., Brumat, Marco, Burkhardt, Ralph, Campana, Eric, Campbell, Archie, Campbell, Harry, Carroll, Robert J., Catamo, Eulalia, Chambers, John C., Ciullo, Marina, Concas, Maria Pina, Coresh, Josef, Corre, Tanguy, Cusi, Daniele, Felicita, Sala Cinzia, de Borst, Martin H., De Grandi, Alessandro, de Mutsert, Rene, de Vries, Aiko P. J., Delgado, Graciela, Demirkan, Ayse, Devuyst, Olivier, Dittrich, Katalin, Eckardt, Kai-Uwe, Ehret, Georg, Endlich, Karlhans, Evans, Michele K., Gansevoort, Ron T., Gasparini, Paolo, Giedraitis, Vilmantas, Gieger, Christian, Girotto, Giorgia, Ggele, Martin, Gordon, Scott D., Gudbjartsson, Daniel F., Gudnason, Vilmundur, Haller, Toomas, Hamet, Pavel, Harris, Tamara B., Hayward, Caroline, Hicks, Andrew A., Hofer, Edith, Holm, Hilma, Huang, Wei, Hutri-Kahonen, Nina, Hwang, Shih-Jen, Ikram, M. Arfan, Lewis, Raychel M., Ingelsson, Erik, Jakobsdottir, Johanna, Jonsdottir, Ingileif, Jonsson, Helgi, Joshi, Peter K., Josyula, Navya Shilpa, Jung, Bettina, Kahonen, Mika, Kamatani, Yoichiro, Kanai, Masahiro, Kerr, Shona M., Kiess, Wieland, Kleber, Marcus E., Koenig, Wolfgang, Kooner, Jaspal S., Korner, Antje, Kovacs, Peter, Kramer, Bernhard K., Kronenberg, Florian, Kubo, Michiaki, Kuhnel, Brigitte, La Bianca, Martina, Lange, Leslie A., Lehne, Benjamin, Lehtimaki, Terho, Liu, Jun, Loeffler, Markus, Loos, Ruth J. F., Lyytikainen, Leo-Pekka, Magi, Reedik, Mahajan, Anubha, Martin, Nicholas G., Marz, Winfried, Mascalzoni, Deborah, Matsuda, Koichi, Meisinger, Christa, Meitinger, Thomas, Metspalu, Andres, Milaneschi, Yuri, ODonnell, Christopher J., Wilson, Otis D., Gaziano, J. Michael, Mishra, Pashupati P., Mohlke, Karen L., Mononen, Nina, Montgomery, Grant W., Mook-Kanamori, Dennis O., Mueller-Nurasyid, Martina, Nadkarni, Girish N., Nalls, Mike A., Nauck, Matthias, Nikus, Kjell, Ning, Boting, Nolte, Ilja M., Noordam, Raymond, O'Connell, Jeffrey R., Olafsson, Isleifur, Padmanabhan, Sandosh, Penninx, Brenda W. J. H., Perls, Thomas, Peters, Annette, Pirastu, Mario, Pirastu, Nicola, Pistis, Giorgio, Polasek, Ozren, Ponte, Belen, Porteous, David J., Poulain, Tanja, Preuss, Michael H., Rabelink, Ton J., Raffield, Laura M., Raitakari, Olli T., Rettig, Rainer, Rheinberger, Myriam, Rice, Kenneth M., Rizzi, Federica, Robino, Antonietta, Rudan, Igor, Krajcoviechova, Alena, Cifkova, Renata, Rueedi, Rico, Ruggiero, Daniela, Ryan, Kathleen A., Saba, Yasaman, Salvi, Erika, Schmidt, Helena, Schmidt, Reinhold, Shaffer, Christian M., Smith, Albert, V, Smith, Blair H., Spracklen, Cassandra N., Strauch, Konstantin, Stumvoll, Michael, Sulem, Patrick, Tajuddin, Salman M., Teren, Andrej, Thiery, Joachim, Thio, Chris H. L., Thorsteinsdottir, Unnur, Toniolo, Daniela, Tonjes, Anke, Tremblay, Johanne, Uitterlinden, Andre G., Vaccargiu, Simona, van der Harst, Pim, van Duijn, Cornelia M., Verweij, Niek, Voelker, Uwe, Vollenweider, Peter, Waeber, Gerard, Waldenberger, Melanie, Whitfield, John B., Wild, Sarah H., Wilson, James F., Yang, Qiong, Zhang, Weihua, Zonderman, Alan B., Bochud, Murielle, Wilson, James G., Pendergrass, Sarah A., Ho, Kevin, Parsa, Afshin, Pramstaller, Peter P., Psaty, Bruce M., Boeger, Carsten A., Snieder, Harold, Butterworth, Adam S., Okada, Yukinori, Edwards, Todd L., Stefansson, Kari, Susztak, Katalin, Scholz, Markus, Heid, Iris M., Hung, Adriana M., Teumer, Alexander, Pattaro, Cristian, Woodward, Owen M., Vitart, Veronique, Koettgen, Anna, Tin, Adrienne, Marten, Jonathan, Kuhns, Victoria L. Halperin, Li, Yong, Wuttke, Matthias, Kirsten, Holger, Sieber, Karsten B., Qiu, Chengxiang, Gorski, Mathias, Yu, Zhi, Giri, Ayush, Sveinbjornsson, Gardar, Li, Man, Chu, Audrey Y., Hoppmann, Anselm, O'Connor, Luke J., Prins, Bram, Nutile, Teresa, Noce, Damia, Akiyama, Masato, Cocca, Massimiliano, Ghasemi, Sahar, van Der Most, Peter J., Horn, Katrin, Xu, Yizhe, Fuchsberger, Christian, Sedaghat, Sanaz, Afaq, Saima, Amin, Najaf, Arnlov, Johan, Bakker, Stephan J. L., Bansal, Nisha, Baptista, Daniela, Bergmann, Sven, Biggs, Mary L., Biino, Ginevra, Boerwinkle, Eric, Bottinger, Erwin P., Boutin, Thibaud S., Brumat, Marco, Burkhardt, Ralph, Campana, Eric, Campbell, Archie, Campbell, Harry, Carroll, Robert J., Catamo, Eulalia, Chambers, John C., Ciullo, Marina, Concas, Maria Pina, Coresh, Josef, Corre, Tanguy, Cusi, Daniele, Felicita, Sala Cinzia, de Borst, Martin H., De Grandi, Alessandro, de Mutsert, Rene, de Vries, Aiko P. J., Delgado, Graciela, Demirkan, Ayse, Devuyst, Olivier, Dittrich, Katalin, Eckardt, Kai-Uwe, Ehret, Georg, Endlich, Karlhans, Evans, Michele K., Gansevoort, Ron T., Gasparini, Paolo, Giedraitis, Vilmantas, Gieger, Christian, Girotto, Giorgia, Ggele, Martin, Gordon, Scott D., Gudbjartsson, Daniel F., Gudnason, Vilmundur, Haller, Toomas, Hamet, Pavel, Harris, Tamara B., Hayward, Caroline, Hicks, Andrew A., Hofer, Edith, Holm, Hilma, Huang, Wei, Hutri-Kahonen, Nina, Hwang, Shih-Jen, Ikram, M. Arfan, Lewis, Raychel M., Ingelsson, Erik, Jakobsdottir, Johanna, Jonsdottir, Ingileif, Jonsson, Helgi, Joshi, Peter K., Josyula, Navya Shilpa, Jung, Bettina, Kahonen, Mika, Kamatani, Yoichiro, Kanai, Masahiro, Kerr, Shona M., Kiess, Wieland, Kleber, Marcus E., Koenig, Wolfgang, Kooner, Jaspal S., Korner, Antje, Kovacs, Peter, Kramer, Bernhard K., Kronenberg, Florian, Kubo, Michiaki, Kuhnel, Brigitte, La Bianca, Martina, Lange, Leslie A., Lehne, Benjamin, Lehtimaki, Terho, Liu, Jun, Loeffler, Markus, Loos, Ruth J. F., Lyytikainen, Leo-Pekka, Magi, Reedik, Mahajan, Anubha, Martin, Nicholas G., Marz, Winfried, Mascalzoni, Deborah, Matsuda, Koichi, Meisinger, Christa, Meitinger, Thomas, Metspalu, Andres, Milaneschi, Yuri, ODonnell, Christopher J., Wilson, Otis D., Gaziano, J. Michael, Mishra, Pashupati P., Mohlke, Karen L., Mononen, Nina, Montgomery, Grant W., Mook-Kanamori, Dennis O., Mueller-Nurasyid, Martina, Nadkarni, Girish N., Nalls, Mike A., Nauck, Matthias, Nikus, Kjell, Ning, Boting, Nolte, Ilja M., Noordam, Raymond, O'Connell, Jeffrey R., Olafsson, Isleifur, Padmanabhan, Sandosh, Penninx, Brenda W. J. H., Perls, Thomas, Peters, Annette, Pirastu, Mario, Pirastu, Nicola, Pistis, Giorgio, Polasek, Ozren, Ponte, Belen, Porteous, David J., Poulain, Tanja, Preuss, Michael H., Rabelink, Ton J., Raffield, Laura M., Raitakari, Olli T., Rettig, Rainer, Rheinberger, Myriam, Rice, Kenneth M., Rizzi, Federica, Robino, Antonietta, Rudan, Igor, Krajcoviechova, Alena, Cifkova, Renata, Rueedi, Rico, Ruggiero, Daniela, Ryan, Kathleen A., Saba, Yasaman, Salvi, Erika, Schmidt, Helena, Schmidt, Reinhold, Shaffer, Christian M., Smith, Albert, V, Smith, Blair H., Spracklen, Cassandra N., Strauch, Konstantin, Stumvoll, Michael, Sulem, Patrick, Tajuddin, Salman M., Teren, Andrej, Thiery, Joachim, Thio, Chris H. L., Thorsteinsdottir, Unnur, Toniolo, Daniela, Tonjes, Anke, Tremblay, Johanne, Uitterlinden, Andre G., Vaccargiu, Simona, van der Harst, Pim, van Duijn, Cornelia M., Verweij, Niek, Voelker, Uwe, Vollenweider, Peter, Waeber, Gerard, Waldenberger, Melanie, Whitfield, John B., Wild, Sarah H., Wilson, James F., Yang, Qiong, Zhang, Weihua, Zonderman, Alan B., Bochud, Murielle, Wilson, James G., Pendergrass, Sarah A., Ho, Kevin, Parsa, Afshin, Pramstaller, Peter P., Psaty, Bruce M., Boeger, Carsten A., Snieder, Harold, Butterworth, Adam S., Okada, Yukinori, Edwards, Todd L., Stefansson, Kari, Susztak, Katalin, Scholz, Markus, Heid, Iris M., Hung, Adriana M., Teumer, Alexander, Pattaro, Cristian, Woodward, Owen M., Vitart, Veronique, and Koettgen, Anna
Abstract: Elevated serum urate levels cause gout and correlate with cardiometabolic diseases via poorly understood mechanisms. We performed a trans-ancestry genome-wide association study of serum urate in 457,690 individuals, identifying 183 loci (147 previously unknown) that improve the prediction of gout in an independent cohort of 334,880 individuals. Serum urate showed significant genetic correlations with many cardiometabolic traits, with genetic causality analyses supporting a substantial role for pleiotropy. Enrichment analysis, fine-mapping of urate-associated loci and colocalization with gene expression in 47 tissues implicated the kidney and liver as the main target organs and prioritized potentially causal genes and variants, including the transcriptional master regulators in the liver and kidney, HNF1A and HNF4A. Experimental validation showed that HNF4A transactivated the promoter of ABCG2, encoding a major urate transporter, in kidney cells, and that HNF4A p.Thr139Ile is a functional variant. Transcriptional coregulation within and across organs may be a general mechanism underlying the observed pleiotropy between urate and cardiometabolic traits.
Published: 2019
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64. Exome-Derived Adiponectin-Associated Variants Implicate Obesity and Lipid Biology

Author: Spracklen, Cassandra N., Karaderi, Tugce, Yaghootkar, Hanieh, Schurmann, Claudia, Fine, Rebecca S., Kutalik, Zoltan, Preuss, Michael H., Lu, Yingchang, Wittemans, Laura B. L., Adair, Linda S., Allison, Matthew, Amin, Najaf, Auer, Paul L., Bartz, Traci M., Blueher, Matthias, Boehnke, Michael, Borja, Judith B., Bork-Jensen, Jette, Broer, Linda, Chasman, Daniel I., Chen, Yii-Der Ida, Chirstofidou, Paraskevi, Demirkan, Ayse, van Duijn, Cornelia M., Feitosa, Mary F., Garcia, Melissa E., Graff, Mariaelisa, Grallert, Harald, Grarup, Niels, Guo, Xiuqing, Haesser, Jeffrey, Hansen, Torben, Harris, Tamara B., Highland, Heather M., Hong, Jaeyoung, Ikram, M. Arfan, Ingelsson, Erik, Jackson, Rebecca, Jousilahti, Pekka, Kahonen, Mika, Kizer, Jorge R., Kovacs, Peter, Kriebel, Jennifer, Laakso, Markku, Lange, Leslie A., Lehtimaki, Terho, Li, Jin, Li-Gao, Ruifang, Lind, Lars, Luan, Jian'an, Lyytikainen, Leo-Pekka, MacGregor, Stuart, Mackey, David A., Mahajan, Anubha, Mangino, Massimo, Mannisto, Satu, McCarthy, Mark I., McKnight, Barbara, Medina-Gomez, Carolina, Meigs, James B., Molnos, Sophie, Mook-Kanamori, Dennis, Morris, Andrew P., de Mutsert, Renee, Nalls, Mike A., Nedeljkovic, Ivana, North, Kari E., Pennell, Craig E., Pradhan, Aruna D., Province, Michael A., Raitakari, Olli T., Raulerson, Chelsea K., Reiner, Alex P., Ridker, Paul M., Ripatti, Samuli, Roberston, Neil, Rotter, Jerome I., Salomaa, Veikko, Sandoval-Zarate, America A., Sitlani, Colleen M., Spector, Tim D., Strauch, Konstantin, Stumvoll, Michael, Taylor, Kent D., Thuesen, Betina, Toenjes, Anke, Uitterlinden, Andre G., Venturini, Cristina, Walker, Mark, Wang, Carol A., Wang, Shuai, Wareham, Nicholas J., Willems, Sara M., van Dijk, Ko Willems, Wilson, James G., Wu, Ying, Yao, Jie, Young, Kristin L., Langenberg, Claudia, Frayling, Timothy M., Kilpelainen, Tuomas O., Lindgren, Cecilia M., Loos, Ruth J. F., Mohlke, Karen L., Spracklen, Cassandra N., Karaderi, Tugce, Yaghootkar, Hanieh, Schurmann, Claudia, Fine, Rebecca S., Kutalik, Zoltan, Preuss, Michael H., Lu, Yingchang, Wittemans, Laura B. L., Adair, Linda S., Allison, Matthew, Amin, Najaf, Auer, Paul L., Bartz, Traci M., Blueher, Matthias, Boehnke, Michael, Borja, Judith B., Bork-Jensen, Jette, Broer, Linda, Chasman, Daniel I., Chen, Yii-Der Ida, Chirstofidou, Paraskevi, Demirkan, Ayse, van Duijn, Cornelia M., Feitosa, Mary F., Garcia, Melissa E., Graff, Mariaelisa, Grallert, Harald, Grarup, Niels, Guo, Xiuqing, Haesser, Jeffrey, Hansen, Torben, Harris, Tamara B., Highland, Heather M., Hong, Jaeyoung, Ikram, M. Arfan, Ingelsson, Erik, Jackson, Rebecca, Jousilahti, Pekka, Kahonen, Mika, Kizer, Jorge R., Kovacs, Peter, Kriebel, Jennifer, Laakso, Markku, Lange, Leslie A., Lehtimaki, Terho, Li, Jin, Li-Gao, Ruifang, Lind, Lars, Luan, Jian'an, Lyytikainen, Leo-Pekka, MacGregor, Stuart, Mackey, David A., Mahajan, Anubha, Mangino, Massimo, Mannisto, Satu, McCarthy, Mark I., McKnight, Barbara, Medina-Gomez, Carolina, Meigs, James B., Molnos, Sophie, Mook-Kanamori, Dennis, Morris, Andrew P., de Mutsert, Renee, Nalls, Mike A., Nedeljkovic, Ivana, North, Kari E., Pennell, Craig E., Pradhan, Aruna D., Province, Michael A., Raitakari, Olli T., Raulerson, Chelsea K., Reiner, Alex P., Ridker, Paul M., Ripatti, Samuli, Roberston, Neil, Rotter, Jerome I., Salomaa, Veikko, Sandoval-Zarate, America A., Sitlani, Colleen M., Spector, Tim D., Strauch, Konstantin, Stumvoll, Michael, Taylor, Kent D., Thuesen, Betina, Toenjes, Anke, Uitterlinden, Andre G., Venturini, Cristina, Walker, Mark, Wang, Carol A., Wang, Shuai, Wareham, Nicholas J., Willems, Sara M., van Dijk, Ko Willems, Wilson, James G., Wu, Ying, Yao, Jie, Young, Kristin L., Langenberg, Claudia, Frayling, Timothy M., Kilpelainen, Tuomas O., Lindgren, Cecilia M., Loos, Ruth J. F., and Mohlke, Karen L.
Abstract: Circulating levels of adiponectin, an adipocyte-secreted protein associated with cardiovascular and metabolic risk, are highly heritable. To gain insights into the biology that regulates adiponectin levels, we performed an exome array meta-analysis of 265,780 genetic variants in 67,739 individuals of European, Hispanic, African American, and East Asian ancestry. We identified 20 loci associated with adiponectin, including 11 that had been reported previously (p < 2 x 10(-7)). Comparison of exome array variants to regional linkage disequilibrium (LD) patterns and prior genome-wide association study (GWAS) results detected candidate variants (r(2) > .60) spanning as much as 900 kb. To identify potential genes and mechanisms through which the previously unreported association signals act to affect adiponectin levels, we assessed cross-trait associations, expression quantitative trait loci in subcutaneous adipose, and biological pathways of nearby genes. Eight of the nine loci were also associated (p < 1 x 10(-4)) 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.
Published: 2019
Full Text: View/download PDF

65. Erratum:Exome-Derived Adiponectin-Associated Variants Implicate Obesity and Lipid Biology (The American Journal of Human Genetics (2019) 105(1) (15–28), (S0002929719301880), (10.1016/j.ajhg.2019.05.002))

Author: Spracklen, Cassandra N., Karaderi, Tugce, Yaghootkar, Hanieh, Schurmann, Claudia, Fine, Rebecca S., Kutalik, Zoltan, Preuss, Michael H., Lu, Yingchang, Wittemans, Laura B.L., Adair, Linda S., Allison, Matthew, Amin, Najaf, Auer, Paul L., Bartz, Traci M., Blüher, Matthias, Boehnke, Michael, Borja, Judith B., Bork-Jensen, Jette, Broer, Linda, Chasman, Daniel I., Chen, Yii Der Ida, Chirstofidou, Paraskevi, Demirkan, Ayse, van Duijn, Cornelia M., Feitosa, Mary F., Garcia, Melissa E., Graff, Mariaelisa, Grallert, Harald, Grarup, Niels, Guo, Xiuqing, Haesser, Jeffrey, Hansen, Torben, Harris, Tamara B., Highland, Heather M., Hong, Jaeyoung, Ikram, M. Arfan, Ingelsson, Erik, Jackson, Rebecca, Jousilahti, Pekka, Kähönen, Mika, Kizer, Jorge R., Kovacs, Peter, Kriebel, Jennifer, Laakso, Markku, Lange, Leslie A., Lehtimäki, Terho, Li, Jin, Li-Gao, Ruifang, Lind, Lars, Luan, Jian'an, Lyytikäinen, Leo Pekka, MacGregor, Stuart, Mackey, David A., Mahajan, Anubha, Mangino, Massimo, Männistö, Satu, McCarthy, Mark I., McKnight, Barbara, Medina-Gomez, Carolina, Meigs, James B., Molnos, Sophie, Mook-Kanamori, Dennis, Morris, Andrew P., de Mutsert, Renee, Nalls, Mike A., Nedeljkovic, Ivana, North, Kari E., Pennell, Craig E., Pradhan, Aruna D., Province, Michael A., Raitakari, Olli T., Raulerson, Chelsea K., Reiner, Alex P., Ridker, Paul M., Ripatti, Samuli, Roberston, Neil, Rotter, Jerome I., Salomaa, Veikko, Sandoval-Zárate, America A., Sitlani, Colleen M., Spector, Tim D., Strauch, Konstantin, Stumvoll, Michael, Taylor, Kent D., Thuesen, Betina, Tönjes, Anke, Uitterlinden, Andre G., Venturini, Cristina, Walker, Mark, Wang, Carol A., Wang, Shuai, Wareham, Nicholas J., Willems, Sara M., Willems van Dijk, Ko, Wilson, James G., Wu, Ying, Yao, Jie, Young, Kristin L., Langenberg, Claudia, Frayling, Timothy M., Kilpeläinen, Tuomas O., Lindgren, Cecilia M., Loos, Ruth J.F., Mohlke, Karen L., Spracklen, Cassandra N., Karaderi, Tugce, Yaghootkar, Hanieh, Schurmann, Claudia, Fine, Rebecca S., Kutalik, Zoltan, Preuss, Michael H., Lu, Yingchang, Wittemans, Laura B.L., Adair, Linda S., Allison, Matthew, Amin, Najaf, Auer, Paul L., Bartz, Traci M., Blüher, Matthias, Boehnke, Michael, Borja, Judith B., Bork-Jensen, Jette, Broer, Linda, Chasman, Daniel I., Chen, Yii Der Ida, Chirstofidou, Paraskevi, Demirkan, Ayse, van Duijn, Cornelia M., Feitosa, Mary F., Garcia, Melissa E., Graff, Mariaelisa, Grallert, Harald, Grarup, Niels, Guo, Xiuqing, Haesser, Jeffrey, Hansen, Torben, Harris, Tamara B., Highland, Heather M., Hong, Jaeyoung, Ikram, M. Arfan, Ingelsson, Erik, Jackson, Rebecca, Jousilahti, Pekka, Kähönen, Mika, Kizer, Jorge R., Kovacs, Peter, Kriebel, Jennifer, Laakso, Markku, Lange, Leslie A., Lehtimäki, Terho, Li, Jin, Li-Gao, Ruifang, Lind, Lars, Luan, Jian'an, Lyytikäinen, Leo Pekka, MacGregor, Stuart, Mackey, David A., Mahajan, Anubha, Mangino, Massimo, Männistö, Satu, McCarthy, Mark I., McKnight, Barbara, Medina-Gomez, Carolina, Meigs, James B., Molnos, Sophie, Mook-Kanamori, Dennis, Morris, Andrew P., de Mutsert, Renee, Nalls, Mike A., Nedeljkovic, Ivana, North, Kari E., Pennell, Craig E., Pradhan, Aruna D., Province, Michael A., Raitakari, Olli T., Raulerson, Chelsea K., Reiner, Alex P., Ridker, Paul M., Ripatti, Samuli, Roberston, Neil, Rotter, Jerome I., Salomaa, Veikko, Sandoval-Zárate, America A., Sitlani, Colleen M., Spector, Tim D., Strauch, Konstantin, Stumvoll, Michael, Taylor, Kent D., Thuesen, Betina, Tönjes, Anke, Uitterlinden, Andre G., Venturini, Cristina, Walker, Mark, Wang, Carol A., Wang, Shuai, Wareham, Nicholas J., Willems, Sara M., Willems van Dijk, Ko, Wilson, James G., Wu, Ying, Yao, Jie, Young, Kristin L., Langenberg, Claudia, Frayling, Timothy M., Kilpeläinen, Tuomas O., Lindgren, Cecilia M., Loos, Ruth J.F., and Mohlke, Karen L.
Abstract: (The American Journal of Human Genetics 105, 15–28; July 3, 2019) In the originally published version of this article, the effect sizes for the previously reported loci achieving exome-wide significance (indicated with asterisks in the table below) were incorrect. The table has now been corrected online, and the authors apologize for this error. [Table presented]
Published: 2019

66. Exome-Derived Adiponectin-Associated Variants Implicate Obesity and Lipid Biology:[incl. correction]

Author: Spracklen, Cassandra N., Karaderi, Tugce, Yaghootkar, Hanieh, Schurmann, Claudia, Fine, Rebecca S., Kutalik, Zoltan, Preuss, Michael H., Lu, Yingchang, Wittemans, Laura B.L., Adair, Linda S., Allison, Matthew, Amin, Najaf, Auer, Paul L., Bartz, Traci M., Blüher, Matthias, Boehnke, Michael, Borja, Judith B., Bork-Jensen, Jette, Broer, Linda, Chasman, Daniel I., Chen, Yii Der Ida, Chirstofidou, Paraskevi, Demirkan, Ayse, van Duijn, Cornelia M., Feitosa, Mary F., Garcia, Melissa E., Graff, Mariaelisa, Grallert, Harald, Grarup, Niels, Guo, Xiuqing, Haesser, Jeffrey, Hansen, Torben, Harris, Tamara B., Highland, Heather M., Hong, Jaeyoung, Ikram, M. Arfan, Ingelsson, Erik, Jackson, Rebecca, Jousilahti, Pekka, Kähönen, Mika, Kizer, Jorge R., Kovacs, Peter, Kriebel, Jennifer, Laakso, Markku, Lange, Leslie A., Lehtimäki, Terho, Li, Jin, Lind, Lars, Kilpeläinen, Tuomas O., Loos, Ruth J.F., Mohlke, Karen L, Spracklen, Cassandra N., Karaderi, Tugce, Yaghootkar, Hanieh, Schurmann, Claudia, Fine, Rebecca S., Kutalik, Zoltan, Preuss, Michael H., Lu, Yingchang, Wittemans, Laura B.L., Adair, Linda S., Allison, Matthew, Amin, Najaf, Auer, Paul L., Bartz, Traci M., Blüher, Matthias, Boehnke, Michael, Borja, Judith B., Bork-Jensen, Jette, Broer, Linda, Chasman, Daniel I., Chen, Yii Der Ida, Chirstofidou, Paraskevi, Demirkan, Ayse, van Duijn, Cornelia M., Feitosa, Mary F., Garcia, Melissa E., Graff, Mariaelisa, Grallert, Harald, Grarup, Niels, Guo, Xiuqing, Haesser, Jeffrey, Hansen, Torben, Harris, Tamara B., Highland, Heather M., Hong, Jaeyoung, Ikram, M. Arfan, Ingelsson, Erik, Jackson, Rebecca, Jousilahti, Pekka, Kähönen, Mika, Kizer, Jorge R., Kovacs, Peter, Kriebel, Jennifer, Laakso, Markku, Lange, Leslie A., Lehtimäki, Terho, Li, Jin, Lind, Lars, Kilpeläinen, Tuomas O., Loos, Ruth J.F., and Mohlke, Karen L
Abstract: Circulating levels of adiponectin, an adipocyte-secreted protein associated with cardiovascular and metabolic risk, are highly heritable. To gain insights into the biology that regulates adiponectin levels, we performed an exome array meta-analysis of 265,780 genetic variants in 67,739 individuals of European, Hispanic, African American, and East Asian ancestry. We identified 20 loci associated with adiponectin, including 11 that had been reported previously (p < 2 × 10−7). Comparison of exome array variants to regional linkage disequilibrium (LD) patterns and prior genome-wide association study (GWAS) results detected candidate variants (r2 > .60) spanning as much as 900 kb. To identify potential genes and mechanisms through which the previously unreported association signals act to affect adiponectin levels, we assessed cross-trait associations, expression quantitative trait loci in subcutaneous adipose, and biological pathways of nearby genes. Eight of the nine loci were also associated (p < 1 × 10−4) 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.
Published: 2019

67. Coding Variant In  LEP Associated with Lower Leptin Concentrations Implicates Leptin in the Regulation of Early Adiposity

Author: Yaghootkar, Hanieh, primary, Zhang, Yiying, additional, Spracklen, Cassandra N., additional, Karaderi, Tugce, additional, Huang, Lam Opal, additional, Bradfield, Jonathan, additional, Schurmann, Claudia, additional, Fine, Rebecca S., additional, Preuss, Michael H., additional, Kutalik, Zoltan, additional, Wittemans, Laura BL, additional, Lu, Yingchang, additional, Metz, Sophia, additional, Willems, Sara M., additional, Li-Gao, Ruifang, additional, Grarup, Niels, additional, Wang, Shuai, additional, Molnos, Sophie, additional, Sandoval-Zárate, América A., additional, Nalls, Mike A., additional, Lange, Leslie A., additional, Haesser, Jeffrey, additional, Guo, Xiuqing, additional, Lyytikäinen, Leo-Pekka, additional, Feitosa, Mary F., additional, Sitlani, Colleen M., additional, Venturini, Cristina, additional, Mahajan, Anubha, additional, Kacprowski, Tim, additional, Wang, Carol A., additional, Chasman, Daniel I., additional, Amin, Najaf, additional, Broer, Linda, additional, Robertson, Neil, additional, Young, Kristin L., additional, Allison, Matthew, additional, Auer, Paul L., additional, Blüher, Matthias, additional, Borja, Judith B., additional, Bork-Jensen, Jette, additional, Carrasquilla, Germán D., additional, Christofidou, Paraskevi, additional, Demirkan, Ayse, additional, Doege, Claudia A., additional, Garcia, Melissa E., additional, Graff, Mariaelisa, additional, Guo, Kaiying, additional, Hakonarson, Hakon, additional, Hong, Jaeyoung, additional, Chen, Yii-Der Ida, additional, Jackson, Rebecca, additional, Jakupović, Hermina, additional, Jousilahti, Pekka, additional, Justice, Anne E., additional, Kähönen, Mika, additional, Kizer, Jorge R., additional, Kriebel, Jennifer, additional, LeDuc, Charles A., additional, Li, Jin, additional, Lind, Lars, additional, Luan, Jian’an, additional, Mackey, David, additional, Mangino, Massimo, additional, Männistö, Satu, additional, Martin Carli, Jayne F., additional, Medina-Gomez, Carolina, additional, Mook-Kanamori, Dennis O., additional, Morris, Andrew P., additional, de Mutsert, Renée, additional, Nauck, Matthias, additional, Nedeljkovic, Ivana, additional, Pennell, Craig E., additional, Pradhan, Arund D., additional, Psaty, Bruce M., additional, Raitakari, Olli T., additional, Scott, Robert A., additional, Skaaby, Tea, additional, Strauch, Konstantin, additional, Taylor, Kent D., additional, Teumer, Alexander, additional, Uitterlinden, Andre G., additional, Wu, Ying, additional, Yao, Jie, additional, Walker, Mark, additional, North, Kari E., additional, Kovacs, Peter, additional, Ikram, M. Arfan, additional, van Duijn, Cornelia M., additional, Ridker, Paul M., additional, Lye, Stephen, additional, Homuth, Georg, additional, Ingelsson, Erik, additional, Spector, Timothy D., additional, McKnight, Barbara, additional, Province, Michael A., additional, Lehtimäki, Terho, additional, Adair, Linda, additional, Rotter, Jerome I., additional, Reiner, Alexander P., additional, Wilson, James G., additional, Harris, Tamara, additional, Ripatti, Samuli, additional, Grallert, Harald, additional, Meigs, James B., additional, Salomaa, Veikko, additional, Hansen, Torben, additional, van Dijk, Ko Willems, additional, Wareham, Nicholas J., additional, Grant, Struan FA, additional, Langenberg, Claudia, additional, Frayling, Timothy M., additional, Lindgren, Cecilia M., additional, Mohlke, Karen L., additional, Leibel, Rudolph L., additional, Loos, Ruth JF, additional, and Kilpeläinen, Tuomas O., additional
Published: 2019
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68. Multi-SNP Mediation Intersection-Union Test

Author: Zhong, Wujuan, primary, Spracklen, Cassandra N., additional, Mohlke, Karen L., additional, Zheng, Xiaojing, additional, Fine, Jason, additional, and Li, Yun, additional
Published: 2018
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69. Identification and functional analysis of glycemic trait loci in the China Health and Nutrition Survey

Author: Spracklen, Cassandra N., primary, Shi, Jinxiu, additional, Vadlamudi, Swarooparani, additional, Wu, Ying, additional, Zou, Meng, additional, Raulerson, Chelsea K., additional, Davis, James P., additional, Zeynalzadeh, Monica, additional, Jackson, Kayla, additional, Yuan, Wentao, additional, Wang, Haifeng, additional, Shou, Weihua, additional, Wang, Ying, additional, Luo, Jingchun, additional, Lange, Leslie A., additional, Lange, Ethan M., additional, Popkin, Barry M., additional, Gordon-Larsen, Penny, additional, Du, Shufa, additional, Huang, Wei, additional, and Mohlke, Karen L., additional
Published: 2018
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70. Abstract MP63: Fine-mapping and Characterization of Adiponectin Gwas Loci Harboring Extensive Allelic Heterogeneity

Author: Spracklen, Cassandra N, primary, Jackson, Anne U, additional, Iyengar, Apoorva, additional, Vadlamudi, Swarooparani, additional, Stringham, Heather, additional, Raulerson, Chelsea K, additional, Cannon, Maren E, additional, Currin, Kevin W, additional, Wu, Ying, additional, Fuchsberger, Christian, additional, Welch, Ryan, additional, Chines, Peter, additional, Narisu, Narisu, additional, Kuusisto, Johanna, additional, Pajukanta, Paivi, additional, Collins, Francis, additional, Boehnke, Michael, additional, Laakso, Markku, additional, and Mohlke, Karen, additional
Published: 2018
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71. Interethnic analyses of blood pressure loci in populations of East Asian and European descent

Author: Takeuchi Fumihiko, Akiyama Masato, Matoba Nana, Katsuya Tomohiro, Nakatochi Masahiro, Tabara Yasuharu, Narita Akira, Saw Woei-Yuh, Moon Sanghoon, Spracklen Cassandra N., Chai Jin-Fang, Kim Young-Jin, Zhang Liang, Wang Chaolong, Li Huaixing, Li Honglan, Wu Jer-Yuarn, Dorajoo Rajkumar, Nierenberg Jovia L., Wang Ya Xing, He Jing, Bennett Derrick A., Takahashi Atsushi, Momozawa Yukihide, Hirata Makoto, Matsuda Koichi, Rakugi Hiromi, Nakashima Eitaro, Isono Masato, Shirota Matsuyuki, Hozawa Atsushi, Ichihara Sahoko, Matsubara Tatsuaki, Yamamoto Ken, Kohara Katsuhiko, Igase Michiya, Han Sohee, Gordon-Larsen Penny, Huang Wei, Lee Nanette R., Adair Linda S., Hwang Mi Yeong, Lee Juyoung, Chee Miao Li, Sabanayagam Charumathi, Zhao Wanting, Liu Jianjun, Reilly Dermot F., Sun Liang, Huo Shaofeng, Edwards Todd L., Long Jirong, Chang Li-Ching, Chen Chien-Hsiun, Yuan Jian-Min, Koh Woon-Puay, Friedlander Yechiel, Kelly Tanika N., Wei Wen Bin, Xu Liang, Cai Hui, Xiang Yong-Bing, Lin Kuang, Clarke Robert, Walters Robin G., Millwood Iona Y., Li Liming, Chambers John C., Kooner Jaspal S., Elliott Paul, van der Harst Pim, Chen Zhengming, Sasaki Makoto, Shu Xiao-Ou, Jonas Jost B., He Jiang, Heng Chew-Kiat, Chen Yuan-Tsong, Zheng Wei, Lin Xu, Teo Yik-Ying, Tai E-Shyong, Cheng Ching-Yu, Wong Tien Yin, Sim Xueling, Mohlke Karen L., Yamamoto Masayuki, Kim Bong-Jo, Miki Tetsuro, Nabika, Toru, Yokota Mitsuhiro, Kamatani Yoichiro, Kubo Michiaki, Kato Norihiro, Takeuchi Fumihiko, Akiyama Masato, Matoba Nana, Katsuya Tomohiro, Nakatochi Masahiro, Tabara Yasuharu, Narita Akira, Saw Woei-Yuh, Moon Sanghoon, Spracklen Cassandra N., Chai Jin-Fang, Kim Young-Jin, Zhang Liang, Wang Chaolong, Li Huaixing, Li Honglan, Wu Jer-Yuarn, Dorajoo Rajkumar, Nierenberg Jovia L., Wang Ya Xing, He Jing, Bennett Derrick A., Takahashi Atsushi, Momozawa Yukihide, Hirata Makoto, Matsuda Koichi, Rakugi Hiromi, Nakashima Eitaro, Isono Masato, Shirota Matsuyuki, Hozawa Atsushi, Ichihara Sahoko, Matsubara Tatsuaki, Yamamoto Ken, Kohara Katsuhiko, Igase Michiya, Han Sohee, Gordon-Larsen Penny, Huang Wei, Lee Nanette R., Adair Linda S., Hwang Mi Yeong, Lee Juyoung, Chee Miao Li, Sabanayagam Charumathi, Zhao Wanting, Liu Jianjun, Reilly Dermot F., Sun Liang, Huo Shaofeng, Edwards Todd L., Long Jirong, Chang Li-Ching, Chen Chien-Hsiun, Yuan Jian-Min, Koh Woon-Puay, Friedlander Yechiel, Kelly Tanika N., Wei Wen Bin, Xu Liang, Cai Hui, Xiang Yong-Bing, Lin Kuang, Clarke Robert, Walters Robin G., Millwood Iona Y., Li Liming, Chambers John C., Kooner Jaspal S., Elliott Paul, van der Harst Pim, Chen Zhengming, Sasaki Makoto, Shu Xiao-Ou, Jonas Jost B., He Jiang, Heng Chew-Kiat, Chen Yuan-Tsong, Zheng Wei, Lin Xu, Teo Yik-Ying, Tai E-Shyong, Cheng Ching-Yu, Wong Tien Yin, Sim Xueling, Mohlke Karen L., Yamamoto Masayuki, Kim Bong-Jo, Miki Tetsuro, Nabika, Toru, Yokota Mitsuhiro, Kamatani Yoichiro, Kubo Michiaki, and Kato Norihiro
Published: 2018

72. Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels

Author: Spracklen, Cassandra N, primary, Chen, Peng, additional, Kim, Young Jin, additional, Wang, Xu, additional, Cai, Hui, additional, Li, Shengxu, additional, Long, Jirong, additional, Wu, Ying, additional, Wang, Ya Xing, additional, and Takeuchi, Fumihiko, additional
Published: 2018
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73. Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels

Author: Spracklen Cassandra N., Chen Peng, Kim Young Jin, Wang Xu, Cai Hui, Li Shengxu, Long Jirong, Wu Ying, Wang Ya Xing, Takeuchi Fumihiko, Wu Jer-Yuarn, Jung Keum-Ji, Hu Cheng, Akiyama Koichi, Zhang Yonghong, Moon Sanghoon, Johnson Todd A., Li Huaixing, Dorajoo Rajkumar, He Meian, Cannon Maren E., Roman Tamara S., Salfati Elias, Lin Keng-Hung, Guo Xiuqing, Sheu Wayne H. H., Absher Devin, Adair Linda S., Assimes Themistocles L., Aung Tin, Cai Qiuyin, Chang Li-Ching, Chen Chien-Hsiun, Chien Li-Hsin, Chuang Lee-Ming, Chuang Shu-Chun, Du Shufa, Fan Qiao, Fann Cathy S. J., Feranil Alan B., Friedlander Yechiel, Gordon-Larsen Penny, Gu Dongfeng, Gui Lixuan, Guo Zhirong, Heng Chew-Kiat, Hixson James, Hou Xuhong, Hsiung Chao Agnes, Hu Yao, Hwang Mi Yeong, Hwu Chii-Min, Isono Masato, Juang Jyh-Ming Jimmy, Khor Chiea-Chuen, Kim Yun Kyoung, Koh Woon-Puay, Kubo Michiaki, Lee I-Te, Lee Sun-Ju, Lee Wen-Jane, Liang Kae-Woei, Lim Blanche, Lim Sing-Hui, Liu Jianjun, Nabika, Toru, Pan Wen-Harn, Peng Hao, Quertermous Thomas, Sabanayagam Charumathi, Sandow Kevin, Shi Jinxiu, Sun Liang, Tan Pok Chien, Tan Shu-Pei, Taylor Kent D., Teo Yik-Ying, Toh Sue-Anne, Tsunoda Tatsuhiko, van Dam Rob M., Wang Aili, Wang Feijie, Wang Jie, Wei Wen Bin, Xiang Yong-Bing, Yao Jie, Yuan Jian-Min, Zhang Rong, Zhao Wanting, Chen Yii-Der Ida, Rich Stephen S., Rotter Jerome I., Wang Tzung-Dau, Wu Tangchun, Lin Xu, Han Bok-Ghee, Tanaka Toshihiro, Cho Yoon Shin, Katsuya Tomohiro, Jia Weiping, Jee Sun-Ha, Chen Yuan-Tsong, Kato Norihiro, Jonas Jost B., Cheng Ching-Yu, Shu Xiao-Ou, He Jiang, Zheng Wei, Wong Tien-Yin, Huang Wei, Kim Bong-Jo, Tai E-Shyong, Mohlke Karen L., Sim Xueling, Spracklen Cassandra N., Chen Peng, Kim Young Jin, Wang Xu, Cai Hui, Li Shengxu, Long Jirong, Wu Ying, Wang Ya Xing, Takeuchi Fumihiko, Wu Jer-Yuarn, Jung Keum-Ji, Hu Cheng, Akiyama Koichi, Zhang Yonghong, Moon Sanghoon, Johnson Todd A., Li Huaixing, Dorajoo Rajkumar, He Meian, Cannon Maren E., Roman Tamara S., Salfati Elias, Lin Keng-Hung, Guo Xiuqing, Sheu Wayne H. H., Absher Devin, Adair Linda S., Assimes Themistocles L., Aung Tin, Cai Qiuyin, Chang Li-Ching, Chen Chien-Hsiun, Chien Li-Hsin, Chuang Lee-Ming, Chuang Shu-Chun, Du Shufa, Fan Qiao, Fann Cathy S. J., Feranil Alan B., Friedlander Yechiel, Gordon-Larsen Penny, Gu Dongfeng, Gui Lixuan, Guo Zhirong, Heng Chew-Kiat, Hixson James, Hou Xuhong, Hsiung Chao Agnes, Hu Yao, Hwang Mi Yeong, Hwu Chii-Min, Isono Masato, Juang Jyh-Ming Jimmy, Khor Chiea-Chuen, Kim Yun Kyoung, Koh Woon-Puay, Kubo Michiaki, Lee I-Te, Lee Sun-Ju, Lee Wen-Jane, Liang Kae-Woei, Lim Blanche, Lim Sing-Hui, Liu Jianjun, Nabika, Toru, Pan Wen-Harn, Peng Hao, Quertermous Thomas, Sabanayagam Charumathi, Sandow Kevin, Shi Jinxiu, Sun Liang, Tan Pok Chien, Tan Shu-Pei, Taylor Kent D., Teo Yik-Ying, Toh Sue-Anne, Tsunoda Tatsuhiko, van Dam Rob M., Wang Aili, Wang Feijie, Wang Jie, Wei Wen Bin, Xiang Yong-Bing, Yao Jie, Yuan Jian-Min, Zhang Rong, Zhao Wanting, Chen Yii-Der Ida, Rich Stephen S., Rotter Jerome I., Wang Tzung-Dau, Wu Tangchun, Lin Xu, Han Bok-Ghee, Tanaka Toshihiro, Cho Yoon Shin, Katsuya Tomohiro, Jia Weiping, Jee Sun-Ha, Chen Yuan-Tsong, Kato Norihiro, Jonas Jost B., Cheng Ching-Yu, Shu Xiao-Ou, He Jiang, Zheng Wei, Wong Tien-Yin, Huang Wei, Kim Bong-Jo, Tai E-Shyong, Mohlke Karen L., and Sim Xueling
Published: 2017

74. A retrospective study of administration of vaccination for hepatitis B among newborn infants prior to hospital discharge at a midwestern tertiary care center

Author: Ryckman, Kelli K., Spracklen, Cassandra N., Myers, Helen I., and Murray, Jeffrey C.
Abstract: Infants are at high risk of developing chronic, life-threatening disease as a result of hepatitis B virus infection. Universal vaccination of infants against hepatitis B virus, before discharge from the hospital after delivery is recommended as a measure to eradicate infection and associated mortality and morbidity. The purpose of this study was to determine rates of perinatal hepatitis B vaccine (Hep B) administration at a tertiary care center in Iowa and to assess the impact of maternal factors on Hep B uptake.
Published: 2015
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75. Genetic predisposition to elevated levels of C-reactive protein is associated with a decreased risk for preeclampsia

Author: Spracklen, Cassandra N., primary, Smith, Caitlin J., additional, Saftlas, Audrey F., additional, Triche, Elizabeth W., additional, Bjonnes, Andrew, additional, Keating, Brendan J., additional, Saxena, Richa, additional, Breheny, Patrick J., additional, Dewan, Andrew T., additional, Robinson, Jennifer G., additional, Hoh, Josephine, additional, and Ryckman, Kelli K., additional
Published: 2016
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76. Low Birth Weight and Risk of Later-Life Physical Disability in Women

Author: Spracklen, Cassandra N., primary, Ryckman, Kelli K., additional, Robinson, Jennifer G., additional, Stefanick, Marcia L., additional, Sarto, Gloria E., additional, Anton, Stephen D., additional, and Wallace, Robert B., additional
Published: 2016
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77. Genetic Risk Score for Essential Hypertension and Risk of Preeclampsia

Author: Smith, Caitlin J., primary, Saftlas, Audrey F., additional, Spracklen, Cassandra N., additional, Triche, Elizabeth W., additional, Bjonnes, Andrew, additional, Keating, Brendan, additional, Saxena, Richa, additional, Breheny, Patrick J., additional, Dewan, Andrew T., additional, Robinson, Jennifer G., additional, Hoh, Josephine, additional, and Ryckman, Kelli K., additional
Published: 2015
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78. Low Birth Weight and Risk of Later-Life Physical Disability in Women.

Author: Spracklen, Cassandra N., Ryckman, Kelli K., Robinson, Jennifer G., Stefanick, Marcia L., Sarto, Gloria E., Anton, Stephen D., and Wallace, Robert B.
Subjects: *LOW birth weight, *OLD age, *DISABILITIES, *WOMEN with disabilities, *POSTMENOPAUSE, *DEVELOPMENTAL disabilities, *RESEARCH funding, *CROSS-sectional method, *RETROSPECTIVE studies, AGE factors in disabilities
Abstract: Background: There is strong evidence that low and high birth weight due to in-utero programming results in elevated risk for adult diseases, though less research has been performed examining the influence of birth weight and physical disability later in life.Methods: Baseline data from 76,055 postmenopausal women in the Women's Health Initiative, a large multi-ethnic cohort, were used to examine the association between self-reported birth weight category (<6 lbs, 6-7 lbs 15 oz, 8-9 lbs 15 oz, and ≥10 lbs) and the self-reported physical functioning score on the RAND 36-item Health Survey. Linear regression models were adjusted for age, education, race/ethnicity, body mass index, and a comorbidity score.Results: Unadjusted models indicate that women born in the lowest and highest birth weight categories have significantly lower physical functioning scores as compared to women born in the normal weight category (β = -2.22, p < .0001 and β = -3.56, p < .0001, respectively). After adjustments, the relationship between the lowest birth weight category and physical functioning score remained significant (β = -1.52, p < .0001); however, the association with the highest birth weight category dissipated.Conclusions: Preconception and prenatal interventions aimed at reducing the incidence of low birth weight infants may subsequently reduce the burden of later-life physical disability. [ABSTRACT FROM AUTHOR]
Published: 2017
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79. Genetic predisposition to elevated levels of C-reactive protein is associated with a decreased risk for preeclampsia.

Author: Spracklen, Cassandra N., Smith, Caitlin J., Saftlas, Audrey F., Triche, Elizabeth W., Bjonnes, Andrew, Keating, Brendan J., Saxena, Richa, Breheny, Patrick J., Dewan, Andrew T., Robinson, Jennifer G., Hoh, Josephine, and Ryckman, Kelli K.
Subjects: *C-reactive protein, *RISK factors of preeclampsia, *LOCUS (Genetics), *PREECLAMPSIA, *LOGISTIC regression analysis, *GENETICS, *BLOOD pressure, *DISEASE susceptibility, *GENETIC polymorphisms, *GENETIC techniques, *GENOMES, *RESEARCH funding, *GENOTYPES
Abstract: Objective: To examine the association between genetic predisposition to elevated C-reactive protein (CRP)and risk for preeclampsia using validated genetic loci for C-reactive protein.Methods: Preeclampsia cases (n = 177) and normotensive controls (n = 116) were selected from live birth certificates to nulliparous Iowa women during the period August 2002-May 2005. Disease status was verified by the medical chart review. Genetic predisposition to CRP was estimated by a genetic risk score on the basis of established loci for CRP levels. Logistic regression analyses were used to evaluate the relationships between the genotype score and preeclampsia. Replication analyses were performed in an independent, US population of preeclampsia cases (n = 516) and controls (n = 1,097) of European ancestry.Results: The genetic risk score (GRS) related to higher levels of CRP demonstrated a significantly decreased risk of preeclampsia (OR 0.89, 95% CI 0.82-0.96). When the GRS was analyzed by quartile, an inverse linear trend was observed (p = 0.0006). The results were similar after adjustments for the body mass index (BMI), smoking, and leisure-time physical activity. In the independent replication population, the association with the CRP GRS was also marginally significant (OR 0.97, 95% CI 0.92, 1.02). Meta-analysis of the two studies was statistically significant (OR 0.95, 95% CI 0.90, 0.99).Conclusion: Our data suggest an inverse, counterintuitive association between the genetic predisposition to elevated levels of CRP and a decreased risk of preeclampsia. This suggests that the blood CRP level is a marker of preeclampsia, but it does not appear to be a factor on the causal pathway. [ABSTRACT FROM AUTHOR]
Published: 2017
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80. Genetic variation in CYB5R3 is associated with methemoglobin levels in preterm infants receiving nitric oxide therapy

Author: Fuller, Tyson D., primary, Spracklen, Cassandra N., additional, Ryckman, Kelli K., additional, Knake, Lindsey A., additional, Busch, Tamara D., additional, Momany, Allison M., additional, Murray, Jeffrey C., additional, and Dagle, John M., additional
Published: 2014
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81. Genetic Predisposition to Dyslipidemia and Risk of Preeclampsia

Author: Spracklen, Cassandra N., primary, Saftlas, Audrey F., additional, Triche, Elizabeth W., additional, Bjonnes, Andrew, additional, Keating, Brendan, additional, Saxena, Richa, additional, Breheny, Patrick J., additional, Dewan, Andrew T., additional, Robinson, Jennifer G., additional, Hoh, Josephine, additional, and Ryckman, Kelli K., additional
Published: 2014
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82. Effects of smoking and preeclampsia on birth weight for gestational age

Author: Spracklen, Cassandra N., primary, Ryckman, Kelli K., additional, Harland, Karisa, additional, and Saftlas, Audrey F., additional
Published: 2014
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83. Prostaglandins temporally regulate cytoplasmic actin bundle formation duringDrosophilaoogenesis

Author: Spracklen, Andrew J., primary, Kelpsch, Daniel J., additional, Chen, Xiang, additional, Spracklen, Cassandra N., additional, and Tootle, Tina L., additional
Published: 2014
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84. Maternal factors and complications of preterm birth associated with neonatal thyroid stimulating hormone

Author: Ryckman, Kelli K., primary, Spracklen, Cassandra N., additional, Dagle, John M., additional, and Murray, Jeffrey C., additional
Published: 2014
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85. Does Loop Electrosurgical Excision Procedure of the Uterine Cervix Affect Anti-Müllerian Hormone Levels?

Author: Sklavos, Martha M., primary, Spracklen, Cassandra N., additional, Saftlas, Audrey F., additional, and Pinto, Ligia A., additional
Published: 2014
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86. Exome chip meta-analysis identifies novel loci and East Asian–specific coding variants that contribute to lipid levels and coronary artery disease

Author: Lu, Xiangfeng, Peloso, Gina M, Liu, Dajiang J, Wu, Ying, Zhang, He, Zhou, Wei, Li, Jun, Tang, Clara Sze-man, Dorajoo, Rajkumar, Li, Huaixing, Long, Jirong, Guo, Xiuqing, Xu, Ming, Spracklen, Cassandra N, Chen, Yang, Liu, Xuezhen, Zhang, Yan, Khor, Chiea Chuen, Liu, Jianjun, Sun, Liang, Wang, Laiyuan, Gao, Yu-Tang, Hu, Yao, Yu, Kuai, Wang, Yiqin, Cheung, Chloe Yu Yan, Wang, Feijie, Huang, Jianfeng, Fan, Qiao, Cai, Qiuyin, Chen, Shufeng, Shi, Jinxiu, Yang, Xueli, Zhao, Wanting, Sheu, Wayne H-H, Cherny, Stacey Shawn, He, Meian, Feranil, Alan B, Adair, Linda S, Gordon-Larsen, Penny, Du, Shufa, Varma, Rohit, Chen, Yii-Der Ida, Shu, Xiao-Ou, Lam, Karen Siu Ling, Wong, Tien Yin, Ganesh, Santhi K, Mo, Zengnan, Hveem, Kristian, Fritsche, Lars G, Nielsen, Jonas Bille, Tse, Hung-fat, Huo, Yong, Cheng, Ching-Yu, Chen, Y Eugene, Zheng, Wei, Tai, E Shyong, Gao, Wei, Lin, Xu, Huang, Wei, Abecasis, Goncalo, Kathiresan, Sekar, Mohlke, Karen L, Wu, Tangchun, Sham, Pak Chung, Gu, Dongfeng, and Willer, Cristen J
Abstract: Most genome-wide association studies have been of European individuals, even though most genetic variation in humans is seen only in non-European samples. To search for novel loci associated with blood lipid levels and clarify the mechanism of action at previously identified lipid loci, we used an exome array to examine protein-coding genetic variants in 47,532 East Asian individuals. We identified 255 variants at 41 loci that reached chip-wide significance, including 3 novel loci and 14 East Asian–specific coding variant associations. After a meta-analysis including >300,000 European samples, we identified an additional nine novel loci. Sixteen genes were identified by protein-altering variants in both East Asians and Europeans, and thus are likely to be functional genes. Our data demonstrate that most of the low-frequency or rare coding variants associated with lipids are population specific, and that examining genomic data across diverse ancestries may facilitate the identification of functional genes at associated loci.
Published: 2017
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87. Genetic Risk Score for Essential Hypertension and Risk of Preeclampsia.

Author: Smith, Caitlin J., Saftlas, Audrey F., Spracklen, Cassandra N., Triche, Elizabeth W., Bjonnes, Andrew, Keating, Brendan, Saxena, Richa, Breheny, Patrick J., Dewan, Andrew T., Robinson, Jennifer G., Hoh, Josephine, and Ryckman, Kelli K.
Subjects: PREECLAMPSIA, PREGNANCY complications, HYPERTENSION risk factors, BLOOD pressure, GENETIC epidemiology, GENETICS
Abstract: BACKGROUND: Preeclampsia is a hypertensive complication of pregnancy characterized by novel onset of hypertension after 20 weeks gestation, accompanied by proteinuria. Epidemiological evidence suggests that genetic susceptibility exists for preeclampsia; however, whether preeclampsia is the result of underlying genetic risk for essential hypertension has yet to be investigated. Based on the hypertensive state that is characteristic of preeclampsia, we aimed to determine if established genetic risk scores (GRSs) for hypertension and blood pressure are associated with preeclampsia. METHODS: Subjects consisted of 162 preeclamptic cases and 108 normotensive pregnant controls, all of Iowa residence. Subjects' DNA was extracted from buccal swab samples and genotyped on the Affymetrix Genomewide Human SNP Array 6.0 (Affymetrix, Santa Clara, CA). Missing genotypes were imputed using MaCH and Minimac software. GRSs were calculated for hypertension, systolic blood pressure (SBP), diastolic blood pressure (DBP), and mean arterial pressure (MAP) using established genetic risk loci for each outcome. Regression analyses were performed to determine the association between GRS and risk of preeclampsia. These analyses were replicated in an independent US population of 516 cases and 1,097 controls of European ancestry. RESULTS: GRSs for hypertension, SBP, DBP, and MAP were not significantly associated with risk for preeclampsia (P > 0.189). The results of the replication analysis also yielded nonsignificant associations. CONCLUSIONS: GRSs for hypertension and blood pressure are not associated with preeclampsia, suggesting that an underlying predisposition to essential hypertension is not on the causal pathway of preeclampsia. [ABSTRACT FROM AUTHOR]
Published: 2016
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88. Genetic Predisposition to Dyslipidemia and Risk of Preeclampsia.

Author: Spracklen, Cassandra N., Saftlas, Audrey F., Triche, Elizabeth W., Bjonnes, Andrew, Keating, Brendan, Saxena, Richa, Breheny, Patrick J., Dewan, Andrew T., Robinson, Jennifer G., Hoh, Josephine, and Ryckman, Kelli K.
Subjects: DYSLIPIDEMIA, PREECLAMPSIA, CHOLESTEROL metabolism, TRIGLYCERIDES, LOGISTIC regression analysis
Abstract: BACKGROUND Large epidemiologic studies support the role of dyslipidemia in preeclampsia; however, the etiology of preeclampsia or whether dyslipidemia plays a causal role remains unclear. We examined the association between the genetic predisposition to dyslipidemia and risk of preeclampsia using validated genetic markers of dyslipidemia. METHODS Preeclampsia cases (n = 164) and normotensive controls (n = 110) were selected from live birth certificates to nulliparous Iowa women during the period August 2002 to May 2005. Disease status was verified by medical chart review. Genetic predisposition to dyslipidemia was estimated by 4 genetic risk scores (GRS) (total cholesterol (TC), LDL cholesterol (LDL-C), HDL cholesterol (HDL-C), and triglycerides) on the basis of established loci for blood lipids. Logistic regression analyses were used to evaluate the relationships between each of the 4 genotype scores and preeclampsia. Replication analyses were performed in an independent, US population of preeclampsia cases (n = 516) and controls (n = 1,097) of European ancestry. RESULTS The GRS related to higher levels of TC, LDL-C, and triglycerides demonstrated no association with the risk of preeclampsia in either the Iowa or replication population. The GRS related to lower HDL-C was marginally associated with an increased risk for preeclampsia (odds ratio (OR) = 1.03, 95% confidence interval (CI) = 0.99-1.07; P = 0.10). In the independent replication population, the association with the HDL-C GRS was also marginally significant (OR = 1.03, 95% CI: 1.00-1.06; P = 0.04). CONCLUSIONS Our data suggest a potential effect between the genetic predisposition to dyslipidemic levels of HDL-C and an increased risk of preeclampsia, and, as such, suggest that dyslipidemia may be a component along the causal pathway to preeclampsia. [ABSTRACT FROM AUTHOR]
Published: 2015
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89. Effects of smoking and preeclampsia on birth weight for gestational age.

Author: Spracklen, Cassandra N., Ryckman, Kelli K., Harland, Karisa, and Saftlas, Audrey F.
Subjects: *HEALTH, *SMOKING, *PREECLAMPSIA, *GESTATIONAL age, *BIRTH weight, *WOMEN'S tobacco use, *PREGNANT women
Abstract: Objective: A counterintuitive interaction between smoking during pregnancy and preeclampsia on birth weight for gestational age (BWGA) outcomes was recently reported. In this report, we examine the relationship between these factors in a well-documented study population with exposure data on trimester of maternal smoking. Methods: Preeclamptic ( n = 238), gestational hypertensive ( n = 219), and normotensive women ( n = 342) were selected from live-births to nulliparous Iowa women. Disease status was verified by medical chart review, and smoking exposure was assessed by self-report. Fetal growth was assessed as z-score of BWGA. Multiple linear regression was used to test for the association of maternal smoking and preeclampsia with BWGA z-score. Results: There was no interaction between smoking with preeclampsia or gestational hypertension on fetal growth. BWGA z-scores were significantly lower among women with preeclampsia and those who smoked any time during pregnancy (β = −0.33, p = <0.0001 and β = −0.25, p = 0.05) compared to normotensive and non-smoking women, respectively. Infants of women with gestational hypertension were comparable in size to infants born to normotensive women. Conclusions: Women who developed preeclampsia and those who smoked during pregnancy delivered infants that were significantly smaller than infants of women who did not develop preeclampsia and non-smoking women, respectively. [ABSTRACT FROM AUTHOR]
Published: 2015
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90. Genetic variation in CYB5R3 is associated with methemoglobin levels in preterm infants receiving nitric oxide therapy

Author: Fuller, Tyson D., Spracklen, Cassandra N., Ryckman, Kelli K., Knake, Lindsey A., Busch, Tamara D., Momany, Allison M., Murray, Jeffrey C., and Dagle, John M.
Abstract: Background:In recent years, increasing numbers of preterm infants have been exposed to inhaled nitric oxide (iNO). This population has decreased methemoglobin (MetHb) reductase activity in their erythrocytes, which may increase the risk of MetHb toxicity. We sought to determine if genetic factors are associated with the observed variance in MetHb levels.Methods:A population of 127 preterm infants was genotyped for five single-nucleotide polymorphisms (SNPs) in the CYB5A and CYB5R3 genes. iNO dose and levels of MetHb were obtained by chart abstraction. ANOVA was performed to identify genetic associations with MetHb levels.Results:An association was found between the heterozygous genotype (GA) of rs916321 in the CYB5R3 gene and the mean of the first recorded MetHb levels in Caucasian infants (P = 0.01). This result remained significant after adjustment for the iNO dose (P = 0.009), gender (P = 0.03), multiple gestation (P = 0.03), birth weight (P = 0.02), and gestational age (P = 0.02). No significant associations were found with the other SNPs.Conclusion:We demonstrate a novel genetic association with neonatal MetHb levels. Identification of genetic risk factors may be useful in determining which preterm infants are most at risk of developing MetHb toxicity with the use of iNO.
Published: 2015
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91. Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels

Author: Tin, Adrienne, Marten, Jonathan, Halperin Kuhns, Victoria L, Li, Yong, Wuttke, Matthias, Kirsten, Holger, Sieber, Karsten B, Qiu, Chengxiang, Gorski, Mathias, Yu, Zhi, Giri, Ayush, Sveinbjornsson, Gardar, Li, Man, Chu, Audrey Y, Hoppmann, Anselm, O'Connor, Luke J, Prins, Bram, Nutile, Teresa, Noce, Damia, Akiyama, Masato, Cocca, Massimiliano, Ghasemi, Sahar, Van Der Most, Peter J, Horn, Katrin, Xu, Yizhe, Fuchsberger, Christian, Sedaghat, Sanaz, Afaq, Saima, Amin, Najaf, Ärnlöv, Johan, Bakker, Stephan JL, Bansal, Nisha, Baptista, Daniela, Bergmann, Sven, Biggs, Mary L, Biino, Ginevra, Boerwinkle, Eric, Bottinger, Erwin P, Boutin, Thibaud S, Brumat, Marco, Burkhardt, Ralph, Campana, Eric, Campbell, Archie, Campbell, Harry, Carroll, Robert J, Catamo, Eulalia, Chambers, John C, Ciullo, Marina, Concas, Maria Pina, Coresh, Josef, Corre, Tanguy, Cusi, Daniele, Felicita, Sala Cinzia, De Borst, Martin H, De Grandi, Alessandro, De Mutsert, Renée, De Vries, Aiko PJ, Delgado, Graciela, Demirkan, Ayşe, Devuyst, Olivier, Dittrich, Katalin, Eckardt, Kai-Uwe, Ehret, Georg, Endlich, Karlhans, Evans, Michele K, Gansevoort, Ron T, Gasparini, Paolo, Giedraitis, Vilmantas, Gieger, Christian, Girotto, Giorgia, Gögele, Martin, Gordon, Scott D, Gudbjartsson, Daniel F, Gudnason, Vilmundur, Study, German Chronic Kidney Disease, Haller, Toomas, Hamet, Pavel, Harris, Tamara B, Hayward, Caroline, Hicks, Andrew A, Hofer, Edith, Holm, Hilma, Huang, Wei, Hutri-Kähönen, Nina, Hwang, Shih-Jen, Ikram, M Arfan, Lewis, Raychel M, Ingelsson, Erik, Jakobsdottir, Johanna, Jonsdottir, Ingileif, Jonsson, Helgi, Joshi, Peter K, Josyula, Navya Shilpa, Jung, Bettina, Kähönen, Mika, Kamatani, Yoichiro, Kanai, Masahiro, Kerr, Shona M, Kiess, Wieland, Kleber, Marcus E, Koenig, Wolfgang, Kooner, Jaspal S, Körner, Antje, Kovacs, Peter, Krämer, Bernhard K, Kronenberg, Florian, Kubo, Michiaki, Kühnel, Brigitte, La Bianca, Martina, Lange, Leslie A, Lehne, Benjamin, Lehtimäki, Terho, Lifelines Cohort Study, Liu, Jun, Loeffler, Markus, Loos, Ruth JF, Lyytikäinen, Leo-Pekka, Magi, Reedik, Mahajan, Anubha, Martin, Nicholas G, März, Winfried, Mascalzoni, Deborah, Matsuda, Koichi, Meisinger, Christa, Meitinger, Thomas, Metspalu, Andres, Milaneschi, Yuri, V. A. Million Veteran Program, O'Donnell, Christopher J, Wilson, Otis D, Gaziano, J Michael, Mishra, Pashupati P, Mohlke, Karen L, Mononen, Nina, Montgomery, Grant W, Mook-Kanamori, Dennis O, Müller-Nurasyid, Martina, Nadkarni, Girish N, Nalls, Mike A, Nauck, Matthias, Nikus, Kjell, Ning, Boting, Nolte, Ilja M, Noordam, Raymond, O'Connell, Jeffrey R, Olafsson, Isleifur, Padmanabhan, Sandosh, Penninx, Brenda WJH, Perls, Thomas, Peters, Annette, Pirastu, Mario, Pirastu, Nicola, Pistis, Giorgio, Polasek, Ozren, Ponte, Belen, Porteous, David J, Poulain, Tanja, Preuss, Michael H, Rabelink, Ton J, Raffield, Laura M, Raitakari, Olli T, Rettig, Rainer, Rheinberger, Myriam, Rice, Kenneth M, Rizzi, Federica, Robino, Antonietta, Rudan, Igor, Krajcoviechova, Alena, Cifkova, Renata, Rueedi, Rico, Ruggiero, Daniela, Ryan, Kathleen A, Saba, Yasaman, Salvi, Erika, Schmidt, Helena, Schmidt, Reinhold, Shaffer, Christian M, Smith, Albert V, Smith, Blair H, Spracklen, Cassandra N, Strauch, Konstantin, Stumvoll, Michael, Sulem, Patrick, Tajuddin, Salman M, Teren, Andrej, Thiery, Joachim, Thio, Chris HL, Thorsteinsdottir, Unnur, Toniolo, Daniela, Tönjes, Anke, Tremblay, Johanne, Uitterlinden, André G, Vaccargiu, Simona, Van Der Harst, Pim, Van Duijn, Cornelia M, Verweij, Niek, Völker, Uwe, Vollenweider, Peter, Waeber, Gerard, Waldenberger, Melanie, Whitfield, John B, Wild, Sarah H, Wilson, James F, Yang, Qiong, Zhang, Weihua, Zonderman, Alan B, Bochud, Murielle, Wilson, James G, Pendergrass, Sarah A, Ho, Kevin, Parsa, Afshin, Pramstaller, Peter P, Psaty, Bruce M, Böger, Carsten A, Snieder, Harold, Butterworth, Adam S, Okada, Yukinori, Edwards, Todd L, Stefansson, Kari, Susztak, Katalin, Scholz, Markus, Heid, Iris M, Hung, Adriana M, Teumer, Alexander, Pattaro, Cristian, Woodward, Owen M, Vitart, Veronique, and Köttgen, Anna
Subjects: Genetic Markers, Gout, Kidney, Polymorphism, Single Nucleotide, 3. Good health, Neoplasm Proteins, Uric Acid, Cohort Studies, Hepatocyte Nuclear Factor 4, Liver, Metabolic Diseases, Cardiovascular Diseases, Genetic Loci, Organ Specificity, ATP Binding Cassette Transporter, Subfamily G, Member 2, Humans, Genetic Predisposition to Disease, Hepatocyte Nuclear Factor 1-alpha, Genome-Wide Association Study, Signal Transduction
Abstract: Elevated serum urate levels cause gout and correlate with cardiometabolic diseases via poorly understood mechanisms. We performed a trans-ancestry genome-wide association study of serum urate in 457,690 individuals, identifying 183 loci (147 previously unknown) that improve the prediction of gout in an independent cohort of 334,880 individuals. Serum urate showed significant genetic correlations with many cardiometabolic traits, with genetic causality analyses supporting a substantial role for pleiotropy. Enrichment analysis, fine-mapping of urate-associated loci and colocalization with gene expression in 47 tissues implicated the kidney and liver as the main target organs and prioritized potentially causal genes and variants, including the transcriptional master regulators in the liver and kidney, HNF1A and HNF4A. Experimental validation showed that HNF4A transactivated the promoter of ABCG2, encoding a major urate transporter, in kidney cells, and that HNF4A p.Thr139Ile is a functional variant. Transcriptional coregulation within and across organs may be a general mechanism underlying the observed pleiotropy between urate and cardiometabolic traits.

92. Associations of autozygosity with a broad range of human phenotypes

Author: Clark, David W, Okada, Yukinori, Moore, Kristjan HS, Mason, Dan, Pirastu, Nicola, Gandin, Ilaria, Mattsson, Hannele, Barnes, Catriona LK, Lin, Kuang, Zhao, Jing Hua, Deelen, Patrick, Rohde, Rebecca, Schurmann, Claudia, Guo, Xiuqing, Giulianini, Franco, Zhang, Weihua, Medina-Gomez, Carolina, Karlsson, Robert, Bao, Yanchun, Bartz, Traci M, Baumbach, Clemens, Biino, Ginevra, Bixley, Matthew J, Brumat, Marco, Chai, Jin-Fang, Corre, Tanguy, Cousminer, Diana L, Dekker, Annelot M, Eccles, David A, Van Eijk, Kristel R, Fuchsberger, Christian, Gao, He, Germain, Marine, Gordon, Scott D, De Haan, Hugoline G, Harris, Sarah E, Hofer, Edith, Huerta-Chagoya, Alicia, Igartua, Catherine, Jansen, Iris E, Jia, Yucheng, Kacprowski, Tim, Karlsson, Torgny, Kleber, Marcus E, Li, Shengchao Alfred, Li-Gao, Ruifang, Mahajan, Anubha, Matsuda, Koichi, Meidtner, Karina, Meng, Weihua, Montasser, May E, Van Der Most, Peter J, Munz, Matthias, Nutile, Teresa, Palviainen, Teemu, Prasad, Gauri, Prasad, Rashmi B, Priyanka, Tallapragada Divya Sri, Rizzi, Federica, Salvi, Erika, Sapkota, Bishwa R, Shriner, Daniel, Skotte, Line, Smart, Melissa C, Smith, Albert Vernon, Van Der Spek, Ashley, Spracklen, Cassandra N, Strawbridge, Rona J, Tajuddin, Salman M, Trompet, Stella, Turman, Constance, Verweij, Niek, Viberti, Clara, Wang, Lihua, Warren, Helen R, Wootton, Robyn E, Yanek, Lisa R, Yao, Jie, Yousri, Noha A, Zhao, Wei, Adeyemo, Adebowale A, Afaq, Saima, Aguilar-Salinas, Carlos Alberto, Akiyama, Masato, Albert, Matthew L, Allison, Matthew A, Alver, Maris, Aung, Tin, Azizi, Fereidoun, Bentley, Amy R, Boeing, Heiner, Boerwinkle, Eric, Borja, Judith B, De Borst, Gert J, Bottinger, Erwin P, Broer, Linda, Campbell, Harry, Chanock, Stephen, Chee, Miao-Li, Chen, Guanjie, Chen, Yii-Der I, Chen, Zhengming, Chiu, Yen-Feng, Cocca, Massimiliano, Collins, Francis S, Concas, Maria Pina, Corley, Janie, Cugliari, Giovanni, Van Dam, Rob M, Damulina, Anna, Daneshpour, Maryam S, Day, Felix R, Delgado, Graciela E, Dhana, Klodian, Doney, Alexander SF, Dörr, Marcus, Doumatey, Ayo P, Dzimiri, Nduna, Ebenesersdóttir, S Sunna, Elliott, Joshua, Elliott, Paul, Ewert, Ralf, Felix, Janine F, Fischer, Krista, Freedman, Barry I, Girotto, Giorgia, Goel, Anuj, Gögele, Martin, Goodarzi, Mark O, Graff, Mariaelisa, Granot-Hershkovitz, Einat, Grodstein, Francine, Guarrera, Simonetta, Gudbjartsson, Daniel F, Guity, Kamran, Gunnarsson, Bjarni, Guo, Yu, Hagenaars, Saskia P, Haiman, Christopher A, Halevy, Avner, Harris, Tamara B, Hedayati, Mehdi, Van Heel, David A, Hirata, Makoto, Höfer, Imo, Hsiung, Chao Agnes, Huang, Jinyan, Hung, Yi-Jen, Ikram, M Arfan, Jagadeesan, Anuradha, Jousilahti, Pekka, Kamatani, Yoichiro, Kanai, Masahiro, Kerrison, Nicola D, Kessler, Thorsten, Khaw, Kay-Tee, Khor, Chiea Chuen, De Kleijn, Dominique PV, Koh, Woon-Puay, Kolcic, Ivana, Kraft, Peter, Krämer, Bernhard K, Kutalik, Zoltán, Kuusisto, Johanna, Langenberg, Claudia, Launer, Lenore J, Lawlor, Deborah A, Lee, I-Te, Lee, Wen-Jane, Lerch, Markus M, Li, Liming, Liu, Jianjun, Loh, Marie, London, Stephanie J, Loomis, Stephanie, Lu, Yingchang, Luan, Jian'an, Mägi, Reedik, Manichaikul, Ani W, Manunta, Paolo, Másson, Gísli, Matoba, Nana, Mei, Xue W, Meisinger, Christa, Meitinger, Thomas, Mezzavilla, Massimo, Milani, Lili, Millwood, Iona Y, Momozawa, Yukihide, Moore, Amy, Morange, Pierre-Emmanuel, Moreno-Macías, Hortensia, Mori, Trevor A, Morrison, Alanna C, Muka, Taulant, Murakami, Yoshinori, Murray, Alison D, De Mutsert, Renée, Mychaleckyj, Josyf C, Nalls, Mike A, Nauck, Matthias, Neville, Matt J, Nolte, Ilja M, Ong, Ken K, Orozco, Lorena, Padmanabhan, Sandosh, Pálsson, Gunnar, Pankow, James S, Pattaro, Cristian, Pattie, Alison, Polasek, Ozren, Poulter, Neil, Pramstaller, Peter P, Quintana-Murci, Lluis, Räikkönen, Katri, Ralhan, Sarju, Rao, Dabeeru C, Van Rheenen, Wouter, Rich, Stephen S, Ridker, Paul M, Rietveld, Cornelius A, Robino, Antonietta, Van Rooij, Frank JA, Ruggiero, Daniela, Saba, Yasaman, Sabanayagam, Charumathi, Sabater-Lleal, Maria, Sala, Cinzia Felicita, Salomaa, Veikko, Sandow, Kevin, Schmidt, Helena, Scott, Laura J, Scott, William R, Sedaghati-Khayat, Bahareh, Sennblad, Bengt, Van Setten, Jessica, Sever, Peter J, Sheu, Wayne H-H, Shi, Yuan, Shrestha, Smeeta, Shukla, Sharvari Rahul, Sigurdsson, Jon K, Sikka, Timo Tonis, Singh, Jai Rup, Smith, Blair H, Stančáková, Alena, Stanton, Alice, Starr, John M, Stefansdottir, Lilja, Straker, Leon, Sulem, Patrick, Sveinbjornsson, Gardar, Swertz, Morris A, Taylor, Adele M, Taylor, Kent D, Terzikhan, Natalie, Tham, Yih-Chung, Thorleifsson, Gudmar, Thorsteinsdottir, Unnur, Tillander, Annika, Tracy, Russell P, Tusié-Luna, Teresa, Tzoulaki, Ioanna, Vaccargiu, Simona, Vangipurapu, Jagadish, Veldink, Jan H, Vitart, Veronique, Völker, Uwe, Vuoksimaa, Eero, Wakil, Salma M, Waldenberger, Melanie, Wander, Gurpreet S, Wang, Ya Xing, Wareham, Nicholas J, Wild, Sarah, Yajnik, Chittaranjan S, Yuan, Jian-Min, Zeng, Lingyao, Zhang, Liang, Zhou, Jie, Amin, Najaf, Asselbergs, Folkert W, Bakker, Stephan JL, Becker, Diane M, Lehne, Benjamin, Bennett, David A, Van Den Berg, Leonard H, Berndt, Sonja I, Bharadwaj, Dwaipayan, Bielak, Lawrence F, Bochud, Murielle, Boehnke, Mike, Bouchard, Claude, Bradfield, Jonathan P, Brody, Jennifer A, Campbell, Archie, Carmi, Shai, Caulfield, Mark J, Cesarini, David, Chambers, John C, Chandak, Giriraj Ratan, Cheng, Ching-Yu, Ciullo, Marina, Cornelis, Marilyn, Cusi, Daniele, Smith, George Davey, Deary, Ian J, Dorajoo, Rajkumar, Van Duijn, Cornelia M, Ellinghaus, David, Erdmann, Jeanette, Eriksson, Johan G, Evangelou, Evangelos, Evans, Michele K, Faul, Jessica D, Feenstra, Bjarke, Feitosa, Mary, Foisy, Sylvain, Franke, Andre, Friedlander, Yechiel, Gasparini, Paolo, Gieger, Christian, Gonzalez, Clicerio, Goyette, Philippe, Grant, Struan FA, Griffiths, Lyn R, Groop, Leif, Gudnason, Vilmundur, Gyllensten, Ulf, Hakonarson, Hakon, Hamsten, Anders, Van Der Harst, Pim, Heng, Chew-Kiat, Hicks, Andrew A, Hochner, Hagit, Huikuri, Heikki, Hunt, Steven C, Jaddoe, Vincent WV, De Jager, Philip L, Johannesson, Magnus, Johansson, Åsa, Jonas, Jost B, Jukema, J Wouter, Junttila, Juhani, Kaprio, Jaakko, Kardia, Sharon LR, Karpe, Fredrik, Kumari, Meena, Laakso, Markku, Van Der Laan, Sander W, Lahti, Jari, Laudes, Matthias, Lea, Rodney A, Lieb, Wolfgang, Lumley, Thomas, Martin, Nicholas G, März, Winfried, Matullo, Giuseppe, McCarthy, Mark I, Medland, Sarah E, Merriman, Tony R, Metspalu, Andres, Meyer, Brian F, Mohlke, Karen L, Montgomery, Grant W, Mook-Kanamori, Dennis, Munroe, Patricia B, North, Kari E, Nyholt, Dale R, O'connell, Jeffery R, Ober, Carole, Oldehinkel, Albertine J, Palmas, Walter, Palmer, Colin, Pasterkamp, Gerard G, Patin, Etienne, Pennell, Craig E, Perusse, Louis, Peyser, Patricia A, Pirastu, Mario, Polderman, Tinca JC, Porteous, David J, Posthuma, Danielle, Psaty, Bruce M, Rioux, John D, Rivadeneira, Fernando, Rotimi, Charles, Rotter, Jerome I, Rudan, Igor, Den Ruijter, Hester M, Sanghera, Dharambir K, Sattar, Naveed, Schmidt, Reinhold, Schulze, Matthias B, Schunkert, Heribert, Scott, Robert A, Shuldiner, Alan R, Sim, Xueling, Small, Neil, Smith, Jennifer A, Sotoodehnia, Nona, Tai, E-Shyong, Teumer, Alexander, Timpson, Nicholas J, Toniolo, Daniela, Tregouet, David-Alexandre, Tuomi, Tiinamaija, Vollenweider, Peter, Wang, Carol A, Weir, David R, Whitfield, John B, Wijmenga, Cisca, Wong, Tien-Yin, Wright, John, Yang, Jingyun, Yu, Lei, Zemel, Babette S, Zonderman, Alan B, Perola, Markus, Magnusson, Patrik KE, Uitterlinden, André G, Kooner, Jaspal S, Chasman, Daniel I, Loos, Ruth JF, Franceschini, Nora, Franke, Lude, Haley, Chris S, Hayward, Caroline, Walters, Robin G, Perry, John RB, Esko, Tōnu, Helgason, Agnar, Stefansson, Kari, Joshi, Peter K, Kubo, Michiaki, and Wilson, James F
Subjects: Consanguinity, Cognition, Fertility, Inbreeding Depression, Risk-Taking, Haplotypes, Health Status, Homozygote, Body Size, Humans, Alleles, 3. Good health
Abstract: In many species, the offspring of related parents suffer reduced reproductive success, a phenomenon known as inbreeding depression. In humans, the importance of this effect has remained unclear, partly because reproduction between close relatives is both rare and frequently associated with confounding social factors. Here, using genomic inbreeding coefficients (FROH) for >1.4 million individuals, we show that FROH is significantly associated (p < 0.0005) with apparently deleterious changes in 32 out of 100 traits analysed. These changes are associated with runs of homozygosity (ROH), but not with common variant homozygosity, suggesting that genetic variants associated with inbreeding depression are predominantly rare. The effect on fertility is striking: FROH equivalent to the offspring of first cousins is associated with a 55% decrease [95% CI 44-66%] in the odds of having children. Finally, the effects of FROH are confirmed within full-sibling pairs, where the variation in FROH is independent of all environmental confounding.

93. A catalog of genetic loci associated with kidney function from analyses of a million individuals

Author: Wuttke, Matthias, Li, Yong, Li, Man, Sieber, Karsten B, Feitosa, Mary F, Gorski, Mathias, Tin, Adrienne, Wang, Lihua, Chu, Audrey Y, Hoppmann, Anselm, Kirsten, Holger, Giri, Ayush, Chai, Jin-Fang, Sveinbjornsson, Gardar, Tayo, Bamidele O, Nutile, Teresa, Fuchsberger, Christian, Marten, Jonathan, Cocca, Massimiliano, Ghasemi, Sahar, Xu, Yizhe, Horn, Katrin, Noce, Damia, Van Der Most, Peter J, Sedaghat, Sanaz, Yu, Zhi, Akiyama, Masato, Afaq, Saima, Ahluwalia, Tarunveer S, Almgren, Peter, Amin, Najaf, Ärnlöv, Johan, Bakker, Stephan J L, Bansal, Nisha, Baptista, Daniela, Bergmann, Sven, Biggs, Mary L, Biino, Ginevra, Boehnke, Michael, Boerwinkle, Eric, Boissel, Mathilde, Bottinger, Erwin P, Boutin, Thibaud S, Brenner, Hermann, Brumat, Marco, Burkhardt, Ralph, Butterworth, Adam S, Campana, Eric, Campbell, Archie, Campbell, Harry, Canouil, Mickaël, Carroll, Robert J, Catamo, Eulalia, Chambers, John C, Chee, Miao-Ling, Chee, Miao-Li, Chen, Xu, Cheng, Ching-Yu, Cheng, Yurong, Christensen, Kaare, Cifkova, Renata, Ciullo, Marina, Concas, Maria Pina, Cook, James P, Coresh, Josef, Corre, Tanguy, Sala, Cinzia Felicita, Cusi, Daniele, Danesh, John, Daw, E Warwick, De Borst, Martin H, De Grandi, Alessandro, De Mutsert, Renée, De Vries, Aiko P J, Degenhardt, Frauke, Delgado, Graciela, Demirkan, Ayse, Di Angelantonio, Emanuele, Dittrich, Katalin, Divers, Jasmin, Dorajoo, Rajkumar, Eckardt, Kai-Uwe, Ehret, Georg, Elliott, Paul, Endlich, Karlhans, Evans, Michele K, Felix, Janine F, Foo, Valencia Hui Xian, Franco, Oscar H, Franke, Andre, Freedman, Barry I, Freitag-Wolf, Sandra, Friedlander, Yechiel, Froguel, Philippe, Gansevoort, Ron T, Gao, He, Gasparini, Paolo, Gaziano, J Michael, Giedraitis, Vilmantas, Gieger, Christian, Girotto, Giorgia, Giulianini, Franco, Gögele, Martin, Gordon, Scott D, Gudbjartsson, Daniel F, Gudnason, Vilmundur, Haller, Toomas, Hamet, Pavel, Harris, Tamara B, Hartman, Catharina A, Hayward, Caroline, Hellwege, Jacklyn N, Heng, Chew-Kiat, Hicks, Andrew A, Hofer, Edith, Huang, Wei, Hutri-Kähönen, Nina, Hwang, Shih-Jen, Ikram, M Arfan, Indridason, Olafur S, Ingelsson, Erik, Ising, Marcus, Jaddoe, Vincent W V, Jakobsdottir, Johanna, Jonas, Jost B, Joshi, Peter K, Josyula, Navya Shilpa, Jung, Bettina, Kähönen, Mika, Kamatani, Yoichiro, Kammerer, Candace M, Kanai, Masahiro, Kastarinen, Mika, Kerr, Shona M, Khor, Chiea-Chuen, Kiess, Wieland, Kleber, Marcus E, Koenig, Wolfgang, Kooner, Jaspal S, Körner, Antje, Kovacs, Peter, Kraja, Aldi T, Krajcoviechova, Alena, Kramer, Holly, Krämer, Bernhard K, Kronenberg, Florian, Kubo, Michiaki, Kühnel, Brigitte, Kuokkanen, Mikko, Kuusisto, Johanna, La Bianca, Martina, Laakso, Markku, Lange, Leslie A, Langefeld, Carl D, Lee, Jeannette Jen-Mai, Lehne, Benjamin, Lehtimäki, Terho, Lieb, Wolfgang, Lim, Su-Chi, Lind, Lars, Lindgren, Cecilia M, Liu, Jun, Liu, Jianjun, Loeffler, Markus, Loos, Ruth J F, Lucae, Susanne, Lukas, Mary Ann, Lyytikäinen, Leo-Pekka, Mägi, Reedik, Magnusson, Patrik K E, Mahajan, Anubha, Martin, Nicholas G, Martins, Jade, März, Winfried, Mascalzoni, Deborah, Matsuda, Koichi, Meisinger, Christa, Meitinger, Thomas, Melander, Olle, Metspalu, Andres, Mikaelsdottir, Evgenia K, Milaneschi, Yuri, Miliku, Kozeta, Mishra, Pashupati P, Mohlke, Karen L, Mononen, Nina, Montgomery, Grant W, Mook-Kanamori, Dennis O, Mychaleckyj, Josyf C, Nadkarni, Girish N, Nalls, Mike A, Nauck, Matthias, Nikus, Kjell, Ning, Boting, Nolte, Ilja M, Noordam, Raymond, O'Connell, Jeffrey, O'Donoghue, Michelle L, Olafsson, Isleifur, Oldehinkel, Albertine J, Orho-Melander, Marju, Ouwehand, Willem H, Padmanabhan, Sandosh, Palmer, Nicholette D, Palsson, Runolfur, Penninx, Brenda W J H, Perls, Thomas, Perola, Markus, Pirastu, Mario, Pirastu, Nicola, Pistis, Giorgio, Podgornaia, Anna I, Polasek, Ozren, Ponte, Belen, Porteous, David J, Poulain, Tanja, Pramstaller, Peter P, Preuss, Michael H, Prins, Bram P, Province, Michael A, Rabelink, Ton J, Raffield, Laura M, Raitakari, Olli T, Reilly, Dermot F, Rettig, Rainer, Rheinberger, Myriam, Rice, Kenneth M, Ridker, Paul M, Rivadeneira, Fernando, Rizzi, Federica, Roberts, David J, Robino, Antonietta, Rossing, Peter, Rudan, Igor, Rueedi, Rico, Ruggiero, Daniela, Ryan, Kathleen A, Saba, Yasaman, Sabanayagam, Charumathi, Salomaa, Veikko, Salvi, Erika, Saum, Kai-Uwe, Schmidt, Helena, Schmidt, Reinhold, Schöttker, Ben, Schulz, Christina-Alexandra, Schupf, Nicole, Shaffer, Christian M, Shi, Yuan, Smith, Albert V, Smith, Blair H, Soranzo, Nicole, Spracklen, Cassandra N, Strauch, Konstantin, Stringham, Heather M, Stumvoll, Michael, Svensson, Per O, Szymczak, Silke, Tai, E-Shyong, Tajuddin, Salman M, Tan, Nicholas Y Q, Taylor, Kent D, Teren, Andrej, Tham, Yih-Chung, Thiery, Joachim, Thio, Chris H L, Thomsen, Hauke, Thorleifsson, Gudmar, Toniolo, Daniela, Tönjes, Anke, Tremblay, Johanne, Tzoulaki, Ioanna, Uitterlinden, André G, Vaccargiu, Simona, Van Dam, Rob M, Van Der Harst, Pim, Van Duijn, Cornelia M, Velez Edward, Digna R, Verweij, Niek, Vogelezang, Suzanne, Völker, Uwe, Vollenweider, Peter, Waeber, Gerard, Waldenberger, Melanie, Wallentin, Lars, Wang, Ya Xing, Wang, Chaolong, Waterworth, Dawn M, Bin Wei, Wen, White, Harvey, Whitfield, John B, Wild, Sarah H, Wilson, James F, Wojczynski, Mary K, Wong, Charlene, Wong, Tien-Yin, Xu, Liang, Yang, Qiong, Yasuda, Masayuki, Yerges-Armstrong, Laura M, Zhang, Weihua, Zonderman, Alan B, Rotter, Jerome I, Bochud, Murielle, Psaty, Bruce M, Vitart, Veronique, Wilson, James G, Dehghan, Abbas, Parsa, Afshin, Chasman, Daniel I, Ho, Kevin, Morris, Andrew P, Devuyst, Olivier, Akilesh, Shreeram, Pendergrass, Sarah A, Sim, Xueling, Böger, Carsten A, Okada, Yukinori, Edwards, Todd L, Snieder, Harold, Stefansson, Kari, Hung, Adriana M, Heid, Iris M, Scholz, Markus, Teumer, Alexander, Köttgen, Anna, and Pattaro, Cristian
Subjects: urogenital system, 610 Medicine & health, 360 Social problems & social services, 3. Good health
Abstract: 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.

94. Associations of autozygosity with a broad range of human phenotypes

Author: Clark, David W, Okada, Yukinori, Moore, Kristjan H S, Mason, Dan, Pirastu, Nicola, Gandin, Ilaria, Mattsson, Hannele, Barnes, Catriona L K, Lin, Kuang, Zhao, Jing Hua, Deelen, Patrick, Rohde, Rebecca, Schurmann, Claudia, Guo, Xiuqing, Giulianini, Franco, Zhang, Weihua, Medina-Gomez, Carolina, Karlsson, Robert, Bao, Yanchun, Bartz, Traci M, Baumbach, Clemens, Biino, Ginevra, Bixley, Matthew J, Brumat, Marco, Chai, Jin-Fang, Corre, Tanguy, Cousminer, Diana L, Dekker, Annelot M, Eccles, David A, Van Eijk, Kristel R, Fuchsberger, Christian, Gao, He, Germain, Marine, Gordon, Scott D, De Haan, Hugoline G, Harris, Sarah E, Hofer, Edith, Huerta-Chagoya, Alicia, Igartua, Catherine, Jansen, Iris E, Jia, Yucheng, Kacprowski, Tim, Karlsson, Torgny, Kleber, Marcus E, Li, Shengchao Alfred, Li-Gao, Ruifang, Mahajan, Anubha, Matsuda, Koichi, Meidtner, Karina, Meng, Weihua, Montasser, May E, Van Der Most, Peter J, Munz, Matthias, Nutile, Teresa, Palviainen, Teemu, Prasad, Gauri, Prasad, Rashmi B, Priyanka, Tallapragada Divya Sri, Rizzi, Federica, Salvi, Erika, Sapkota, Bishwa R, Shriner, Daniel, Skotte, Line, Smart, Melissa C, Smith, Albert Vernon, Van Der Spek, Ashley, Spracklen, Cassandra N, Strawbridge, Rona J, Tajuddin, Salman M, Trompet, Stella, Turman, Constance, Verweij, Niek, Viberti, Clara, Wang, Lihua, Warren, Helen R, Wootton, Robyn E, Yanek, Lisa R, Yao, Jie, Yousri, Noha A, Zhao, Wei, Adeyemo, Adebowale A, Afaq, Saima, Aguilar-Salinas, Carlos Alberto, Akiyama, Masato, Albert, Matthew L, Allison, Matthew A, Alver, Maris, Aung, Tin, Azizi, Fereidoun, Bentley, Amy R, Boeing, Heiner, Boerwinkle, Eric, Borja, Judith B, De Borst, Gert J, Bottinger, Erwin P, Broer, Linda, Campbell, Harry, Chanock, Stephen, Chee, Miao-Li, Chen, Guanjie, Chen, Yii-Der I, Chen, Zhengming, Chiu, Yen-Feng, Cocca, Massimiliano, Collins, Francis S, Concas, Maria Pina, Corley, Janie, Cugliari, Giovanni, Van Dam, Rob M, Damulina, Anna, Daneshpour, Maryam S, Day, Felix R, Delgado, Graciela E, Dhana, Klodian, Doney, Alexander S F, Dörr, Marcus, Doumatey, Ayo P, Dzimiri, Nduna, Ebenesersdóttir, S Sunna, Elliott, Joshua, Elliott, Paul, Ewert, Ralf, Felix, Janine F, Fischer, Krista, Freedman, Barry I, Girotto, Giorgia, Goel, Anuj, Gögele, Martin, Goodarzi, Mark O, Graff, Mariaelisa, Granot-Hershkovitz, Einat, Grodstein, Francine, Guarrera, Simonetta, Gudbjartsson, Daniel F, Guity, Kamran, Gunnarsson, Bjarni, Guo, Yu, Hagenaars, Saskia P, Haiman, Christopher A, Halevy, Avner, Harris, Tamara B, Hedayati, Mehdi, Van Heel, David A, Hirata, Makoto, Höfer, Imo, Hsiung, Chao Agnes, Huang, Jinyan, Hung, Yi-Jen, Ikram, M Arfan, Jagadeesan, Anuradha, Jousilahti, Pekka, Kamatani, Yoichiro, Kanai, Masahiro, Kerrison, Nicola D, Kessler, Thorsten, Khaw, Kay-Tee, Khor, Chiea Chuen, De Kleijn, Dominique P V, Koh, Woon-Puay, Kolcic, Ivana, Kraft, Peter, Krämer, Bernhard K, Kutalik, Zoltán, Kuusisto, Johanna, Langenberg, Claudia, Launer, Lenore J, Lawlor, Deborah A, Lee, I-Te, Lee, Wen-Jane, Lerch, Markus M, Li, Liming, Liu, Jianjun, Loh, Marie, London, Stephanie J, Loomis, Stephanie, Lu, Yingchang, Luan, Jian'an, Mägi, Reedik, Manichaikul, Ani W, Manunta, Paolo, Másson, Gísli, Matoba, Nana, Mei, Xue W, Meisinger, Christa, Meitinger, Thomas, Mezzavilla, Massimo, Milani, Lili, Millwood, Iona Y, Momozawa, Yukihide, Moore, Amy, Morange, Pierre-Emmanuel, Moreno-Macías, Hortensia, Mori, Trevor A, Morrison, Alanna C, Muka, Taulant, Murakami, Yoshinori, Murray, Alison D, De Mutsert, Renée, Mychaleckyj, Josyf C, Nalls, Mike A, Nauck, Matthias, Neville, Matt J, Nolte, Ilja M, Ong, Ken K, Orozco, Lorena, Padmanabhan, Sandosh, Pálsson, Gunnar, Pankow, James S, Pattaro, Cristian, Pattie, Alison, Polasek, Ozren, Poulter, Neil, Pramstaller, Peter P, Quintana-Murci, Lluis, Räikkönen, Katri, Ralhan, Sarju, Rao, Dabeeru C, Van Rheenen, Wouter, Rich, Stephen S, Ridker, Paul M, Rietveld, Cornelius A, Robino, Antonietta, Van Rooij, Frank J A, Ruggiero, Daniela, Saba, Yasaman, Sabanayagam, Charumathi, Sabater-Lleal, Maria, Sala, Cinzia Felicita, Salomaa, Veikko, Sandow, Kevin, Schmidt, Helena, Scott, Laura J, Scott, William R, Sedaghati-Khayat, Bahareh, Sennblad, Bengt, Van Setten, Jessica, Sever, Peter J, Sheu, Wayne H-H, Shi, Yuan, Shrestha, Smeeta, Shukla, Sharvari Rahul, Sigurdsson, Jon K, Sikka, Timo Tonis, Singh, Jai Rup, Smith, Blair H, Stančáková, Alena, Stanton, Alice, Starr, John M, Stefansdottir, Lilja, Straker, Leon, Sulem, Patrick, Sveinbjornsson, Gardar, Swertz, Morris A, Taylor, Adele M, Taylor, Kent D, Terzikhan, Natalie, Tham, Yih-Chung, Thorleifsson, Gudmar, Thorsteinsdottir, Unnur, Tillander, Annika, Tracy, Russell P, Tusié-Luna, Teresa, Tzoulaki, Ioanna, Vaccargiu, Simona, Vangipurapu, Jagadish, Veldink, Jan H, Vitart, Veronique, Völker, Uwe, Vuoksimaa, Eero, Wakil, Salma M, Waldenberger, Melanie, Wander, Gurpreet S, Wang, Ya Xing, Wareham, Nicholas J, Wild, Sarah, Yajnik, Chittaranjan S, Yuan, Jian-Min, Zeng, Lingyao, Zhang, Liang, Zhou, Jie, Amin, Najaf, Asselbergs, Folkert W, Bakker, Stephan J L, Becker, Diane M, Lehne, Benjamin, Bennett, David A, Van Den Berg, Leonard H, Berndt, Sonja I, Bharadwaj, Dwaipayan, Bielak, Lawrence F, Bochud, Murielle, Boehnke, Mike, Bouchard, Claude, Bradfield, Jonathan P, Brody, Jennifer A, Campbell, Archie, Carmi, Shai, Caulfield, Mark J, Cesarini, David, Chambers, John C, Chandak, Giriraj Ratan, Cheng, Ching-Yu, Ciullo, Marina, Cornelis, Marilyn, Cusi, Daniele, Smith, George Davey, Deary, Ian J, Dorajoo, Rajkumar, Van Duijn, Cornelia M, Ellinghaus, David, Erdmann, Jeanette, Eriksson, Johan G, Evangelou, Evangelos, Evans, Michele K, Faul, Jessica D, Feenstra, Bjarke, Feitosa, Mary, Foisy, Sylvain, Franke, Andre, Friedlander, Yechiel, Gasparini, Paolo, Gieger, Christian, Gonzalez, Clicerio, Goyette, Philippe, Grant, Struan F A, Griffiths, Lyn R, Groop, Leif, Gudnason, Vilmundur, Gyllensten, Ulf, Hakonarson, Hakon, Hamsten, Anders, Van Der Harst, Pim, Heng, Chew-Kiat, Hicks, Andrew A, Hochner, Hagit, Huikuri, Heikki, Hunt, Steven C, Jaddoe, Vincent W V, De Jager, Philip L, Johannesson, Magnus, Johansson, Åsa, Jonas, Jost B, Jukema, J Wouter, Junttila, Juhani, Kaprio, Jaakko, Kardia, Sharon L R, Karpe, Fredrik, Kumari, Meena, Laakso, Markku, Van Der Laan, Sander W, Lahti, Jari, Laudes, Matthias, Lea, Rodney A, Lieb, Wolfgang, Lumley, Thomas, Martin, Nicholas G, März, Winfried, Matullo, Giuseppe, McCarthy, Mark I, Medland, Sarah E, Merriman, Tony R, Metspalu, Andres, Meyer, Brian F, Mohlke, Karen L, Montgomery, Grant W, Mook-Kanamori, Dennis, Munroe, Patricia B, North, Kari E, Nyholt, Dale R, O'connell, Jeffery R, Ober, Carole, Oldehinkel, Albertine J, Palmas, Walter, Palmer, Colin, Pasterkamp, Gerard G, Patin, Etienne, Pennell, Craig E, Perusse, Louis, Peyser, Patricia A, Pirastu, Mario, Polderman, Tinca J C, Porteous, David J, Posthuma, Danielle, Psaty, Bruce M, Rioux, John D, Rivadeneira, Fernando, Rotimi, Charles, Rotter, Jerome I, Rudan, Igor, Den Ruijter, Hester M, Sanghera, Dharambir K, Sattar, Naveed, Schmidt, Reinhold, Schulze, Matthias B, Schunkert, Heribert, Scott, Robert A, Shuldiner, Alan R, Sim, Xueling, Small, Neil, Smith, Jennifer A, Sotoodehnia, Nona, Tai, E-Shyong, Teumer, Alexander, Timpson, Nicholas J, Toniolo, Daniela, Tregouet, David-Alexandre, Tuomi, Tiinamaija, Vollenweider, Peter, Wang, Carol A, Weir, David R, Whitfield, John B, Wijmenga, Cisca, Wong, Tien-Yin, Wright, John, Yang, Jingyun, Yu, Lei, Zemel, Babette S, Zonderman, Alan B, Perola, Markus, Magnusson, Patrik K E, Uitterlinden, André G, Kooner, Jaspal S, Chasman, Daniel I, Loos, Ruth J F, Franceschini, Nora, Franke, Lude, Haley, Chris S, Hayward, Caroline, Walters, Robin G, Perry, John R B, Esko, Tōnu, Helgason, Agnar, Stefansson, Kari, Joshi, Peter K, Kubo, Michiaki, and Wilson, James F
Subjects: 610 Medicine & health, 360 Social problems & social services, 3. Good health
Abstract: In many species, the offspring of related parents suffer reduced reproductive success, a phenomenon known as inbreeding depression. In humans, the importance of this effect has remained unclear, partly because reproduction between close relatives is both rare and frequently associated with confounding social factors. Here, using genomic inbreeding coefficients (FROH) for >1.4 million individuals, we show that FROH is significantly associated (p

95. Genetic Studies of Leptin Concentrations Implicate Leptin in the Regulation of Early Adiposity

Author: Yaghootkar, Hanieh, Zhang, Yiying, Spracklen, Cassandra N, Karaderi, Tugce, Huang, Lam Opal, Bradfield, Jonathan, Schurmann, Claudia, Fine, Rebecca S, Preuss, Michael H, Kutalik, Zoltan, Wittemans, Laura BL, Lu, Yingchang, Metz, Sophia, Willems, Sara M, Li-Gao, Ruifang, Grarup, Niels, Wang, Shuai, Molnos, Sophie, Sandoval-Zárate, América A, Nalls, Mike A, Lange, Leslie A, Haesser, Jeffrey, Guo, Xiuqing, Lyytikäinen, Leo-Pekka, Feitosa, Mary F, Sitlani, Colleen M, Venturini, Cristina, Mahajan, Anubha, Kacprowski, Tim, Wang, Carol A, Chasman, Daniel I, Amin, Najaf, Broer, Linda, Robertson, Neil, Young, Kristin L, Allison, Matthew, Auer, Paul L, Blüher, Matthias, Borja, Judith B, Bork-Jensen, Jette, Carrasquilla, Germán D, Christofidou, Paraskevi, Demirkan, Ayse, Doege, Claudia A, Garcia, Melissa E, Graff, Mariaelisa, Guo, Kaiying, Hakonarson, Hakon, Hong, Jaeyoung, Ida Chen, Yii-Der, Jackson, Rebecca, Jakupović, Hermina, Jousilahti, Pekka, Justice, Anne E, Kähönen, Mika, Kizer, Jorge R, Kriebel, Jennifer, LeDuc, Charles A, Li, Jin, Lind, Lars, Luan, Jian'an, Mackey, David A, Mangino, Massimo, Männistö, Satu, Martin Carli, Jayne F, Medina-Gomez, Carolina, Mook-Kanamori, Dennis O, Morris, Andrew P, De Mutsert, Renée, Nauck, Matthias, Prokic, Ivana, Pennell, Craig E, Pradhan, Arund D, Psaty, Bruce M, Raitakari, Olli T, Scott, Robert A, Skaaby, Tea, Strauch, Konstantin, Taylor, Kent D, Teumer, Alexander, Uitterlinden, Andre G, Wu, Ying, Yao, Jie, Walker, Mark, North, Kari E, Kovacs, Peter, Ikram, M Arfan, Van Duijn, Cornelia M, Ridker, Paul M, Lye, Stephen, Homuth, Georg, Ingelsson, Erik, Spector, Tim D, McKnight, Barbara, Province, Michael A, Lehtimäki, Terho, Adair, Linda S, Rotter, Jerome I, Reiner, Alexander P, Wilson, James G, Harris, Tamara B, Ripatti, Samuli, Grallert, Harald, Meigs, James B, Salomaa, Veikko, Hansen, Torben, Willems Van Dijk, Ko, Wareham, Nicholas J, Grant, Struan FA, Langenberg, Claudia, Frayling, Timothy M, Lindgren, Cecilia M, Mohlke, Karen L, Leibel, Rudolph L, Loos, Ruth JF, and Kilpeläinen, Tuomas O
Subjects: 2. Zero hunger, Leptin, Models, Molecular, Genotype, Protein Conformation, digestive, oral, and skin physiology, Racial Groups, Gene Expression Regulation, Developmental, Genetic Variation, Humans, hormones, hormone substitutes, and hormone antagonists, Adiposity
Abstract: Leptin influences food intake by informing the brain about the status of body fat stores. Rare LEP mutations associated with congenital leptin deficiency cause severe early-onset obesity that can be mitigated by administering leptin. However, the role of genetic regulation of leptin in polygenic obesity remains poorly understood. We performed an exome-based analysis in up to 57,232 individuals of diverse ancestries to identify genetic variants that influence adiposity-adjusted leptin concentrations. We identify five novel variants, including four missense variants, in LEP, ZNF800, KLHL31, and ACTL9, and one intergenic variant near KLF14. The missense variant Val94Met (rs17151919) in LEP was common in individuals of African ancestry only, and its association with lower leptin concentrations was specific to this ancestry (P = 2 × 10-16, n = 3,901). Using in vitro analyses, we show that the Met94 allele decreases leptin secretion. We also show that the Met94 allele is associated with higher BMI in young African-ancestry children but not in adults, suggesting that leptin regulates early adiposity.

96. Associations of autozygosity with a broad range of human phenotypes

Author: Clark, David W, Okada, Yukinori, Moore, Kristjan H S, Mason, Dan, Pirastu, Nicola, Gandin, Ilaria, Mattsson, Hannele, Barnes, Catriona L K, Lin, Kuang, Zhao, Jing Hua, Deelen, Patrick, Rohde, Rebecca, Schurmann, Claudia, Guo, Xiuqing, Giulianini, Franco, Zhang, Weihua, Medina-Gomez, Carolina, Karlsson, Robert, Bao, Yanchun, Bartz, Traci M, Baumbach, Clemens, Biino, Ginevra, Bixley, Matthew J, Brumat, Marco, Chai, Jin-Fang, Corre, Tanguy, Cousminer, Diana L, Dekker, Annelot M, Eccles, David A, Van Eijk, Kristel R, Fuchsberger, Christian, Gao, He, Germain, Marine, Gordon, Scott D, De Haan, Hugoline G, Harris, Sarah E, Hofer, Edith, Huerta-Chagoya, Alicia, Igartua, Catherine, Jansen, Iris E, Jia, Yucheng, Kacprowski, Tim, Karlsson, Torgny, Kleber, Marcus E, Li, Shengchao Alfred, Li-Gao, Ruifang, Mahajan, Anubha, Matsuda, Koichi, Meidtner, Karina, Meng, Weihua, Montasser, May E, Van Der Most, Peter J, Munz, Matthias, Nutile, Teresa, Palviainen, Teemu, Prasad, Gauri, Prasad, Rashmi B, Priyanka, Tallapragada Divya Sri, Rizzi, Federica, Salvi, Erika, Sapkota, Bishwa R, Shriner, Daniel, Skotte, Line, Smart, Melissa C, Smith, Albert Vernon, Van Der Spek, Ashley, Spracklen, Cassandra N, Strawbridge, Rona J, Tajuddin, Salman M, Trompet, Stella, Turman, Constance, Verweij, Niek, Viberti, Clara, Wang, Lihua, Warren, Helen R, Wootton, Robyn E, Yanek, Lisa R, Yao, Jie, Yousri, Noha A, Zhao, Wei, Adeyemo, Adebowale A, Afaq, Saima, Aguilar-Salinas, Carlos Alberto, Akiyama, Masato, Albert, Matthew L, Allison, Matthew A, Alver, Maris, Aung, Tin, Azizi, Fereidoun, Bentley, Amy R, Boeing, Heiner, Boerwinkle, Eric, Borja, Judith B, De Borst, Gert J, Bottinger, Erwin P, Broer, Linda, Campbell, Harry, Chanock, Stephen, Chee, Miao-Li, Chen, Guanjie, Chen, Yii-Der I, Chen, Zhengming, Chiu, Yen-Feng, Cocca, Massimiliano, Collins, Francis S, Concas, Maria Pina, Corley, Janie, Cugliari, Giovanni, Van Dam, Rob M, Damulina, Anna, Daneshpour, Maryam S, Day, Felix R, Delgado, Graciela E, Dhana, Klodian, Doney, Alexander S F, Dörr, Marcus, Doumatey, Ayo P, Dzimiri, Nduna, Ebenesersdóttir, S Sunna, Elliott, Joshua, Elliott, Paul, Ewert, Ralf, Felix, Janine F, Fischer, Krista, Freedman, Barry I, Girotto, Giorgia, Goel, Anuj, Gögele, Martin, Goodarzi, Mark O, Graff, Mariaelisa, Granot-Hershkovitz, Einat, Grodstein, Francine, Guarrera, Simonetta, Gudbjartsson, Daniel F, Guity, Kamran, Gunnarsson, Bjarni, Guo, Yu, Hagenaars, Saskia P, Haiman, Christopher A, Halevy, Avner, Harris, Tamara B, Hedayati, Mehdi, Van Heel, David A, Hirata, Makoto, Höfer, Imo, Hsiung, Chao Agnes, Huang, Jinyan, Hung, Yi-Jen, Ikram, M Arfan, Jagadeesan, Anuradha, Jousilahti, Pekka, Kamatani, Yoichiro, Kanai, Masahiro, Kerrison, Nicola D, Kessler, Thorsten, Khaw, Kay-Tee, Khor, Chiea Chuen, De Kleijn, Dominique P V, Koh, Woon-Puay, Kolcic, Ivana, Kraft, Peter, Krämer, Bernhard K, Kutalik, Zoltán, Kuusisto, Johanna, Langenberg, Claudia, Launer, Lenore J, Lawlor, Deborah A, Lee, I-Te, Lee, Wen-Jane, Lerch, Markus M, Li, Liming, Liu, Jianjun, Loh, Marie, London, Stephanie J, Loomis, Stephanie, Lu, Yingchang, Luan, Jian’an, Mägi, Reedik, Manichaikul, Ani W, Manunta, Paolo, Másson, Gísli, Matoba, Nana, Mei, Xue W, Meisinger, Christa, Meitinger, Thomas, Mezzavilla, Massimo, Milani, Lili, Millwood, Iona Y, Momozawa, Yukihide, Moore, Amy, Morange, Pierre-Emmanuel, Moreno-Macías, Hortensia, Mori, Trevor A, Morrison, Alanna C, Muka, Taulant, Murakami, Yoshinori, Murray, Alison D, De Mutsert, Renée, Mychaleckyj, Josyf C, Nalls, Mike A, Nauck, Matthias, Neville, Matt J, Nolte, Ilja M, Ong, Ken K, Orozco, Lorena, Padmanabhan, Sandosh, Pálsson, Gunnar, Pankow, James S, Pattaro, Cristian, Pattie, Alison, Polasek, Ozren, Poulter, Neil, Pramstaller, Peter P, Quintana-Murci, Lluis, Räikkönen, Katri, Ralhan, Sarju, Rao, Dabeeru C, Van Rheenen, Wouter, Rich, Stephen S, Ridker, Paul M, Rietveld, Cornelius A, Robino, Antonietta, Van Rooij, Frank J A, Ruggiero, Daniela, Saba, Yasaman, Sabanayagam, Charumathi, Sabater-Lleal, Maria, Sala, Cinzia Felicita, Salomaa, Veikko, Sandow, Kevin, Schmidt, Helena, Scott, Laura J, Scott, William R, Sedaghati-Khayat, Bahareh, Sennblad, Bengt, Van Setten, Jessica, Sever, Peter J, Sheu, Wayne H-H, Shi, Yuan, Shrestha, Smeeta, Shukla, Sharvari Rahul, Sigurdsson, Jon K, Sikka, Timo Tonis, Singh, Jai Rup, Smith, Blair H, Stančáková, Alena, Stanton, Alice, Starr, John M, Stefansdottir, Lilja, Straker, Leon, Sulem, Patrick, Sveinbjornsson, Gardar, Swertz, Morris A, Taylor, Adele M, Taylor, Kent D, Terzikhan, Natalie, Tham, Yih-Chung, Thorleifsson, Gudmar, Thorsteinsdottir, Unnur, Tillander, Annika, Tracy, Russell P, Tusié-Luna, Teresa, Tzoulaki, Ioanna, Vaccargiu, Simona, Vangipurapu, Jagadish, Veldink, Jan H, Vitart, Veronique, Völker, Uwe, Vuoksimaa, Eero, Wakil, Salma M, Waldenberger, Melanie, Wander, Gurpreet S, Wang, Ya Xing, Wareham, Nicholas J, Wild, Sarah, Yajnik, Chittaranjan S, Yuan, Jian-Min, Zeng, Lingyao, Zhang, Liang, Zhou, Jie, Amin, Najaf, Asselbergs, Folkert W, Bakker, Stephan J L, Becker, Diane M, Lehne, Benjamin, Bennett, David A, Van Den Berg, Leonard H, Berndt, Sonja I, Bharadwaj, Dwaipayan, Bielak, Lawrence F, Bochud, Murielle, Boehnke, Mike, Bouchard, Claude, Bradfield, Jonathan P, Brody, Jennifer A, Campbell, Archie, Carmi, Shai, Caulfield, Mark J, Cesarini, David, Chambers, John C, Chandak, Giriraj Ratan, Cheng, Ching-Yu, Ciullo, Marina, Cornelis, Marilyn, Cusi, Daniele, Smith, George Davey, Deary, Ian J, Dorajoo, Rajkumar, Van Duijn, Cornelia M, Ellinghaus, David, Erdmann, Jeanette, Eriksson, Johan G, Evangelou, Evangelos, Evans, Michele K, Faul, Jessica D, Feenstra, Bjarke, Feitosa, Mary, Foisy, Sylvain, Franke, Andre, Friedlander, Yechiel, Gasparini, Paolo, Gieger, Christian, Gonzalez, Clicerio, Goyette, Philippe, Grant, Struan F A, Griffiths, Lyn R, Groop, Leif, Gudnason, Vilmundur, Gyllensten, Ulf, Hakonarson, Hakon, Hamsten, Anders, Van Der Harst, Pim, Heng, Chew-Kiat, Hicks, Andrew A, Hochner, Hagit, Huikuri, Heikki, Hunt, Steven C, Jaddoe, Vincent W V, De Jager, Philip L, Johannesson, Magnus, Johansson, Åsa, Jonas, Jost B, Jukema, J Wouter, Junttila, Juhani, Kaprio, Jaakko, Kardia, Sharon L. R., Karpe, Fredrik, Kumari, Meena, Laakso, Markku, Van Der Laan, Sander W, Lahti, Jari, Laudes, Matthias, Lea, Rodney A, Lieb, Wolfgang, Lumley, Thomas, Martin, Nicholas G, März, Winfried, Matullo, Giuseppe, McCarthy, Mark I, Medland, Sarah E, Merriman, Tony R, Metspalu, Andres, Meyer, Brian F, Mohlke, Karen L, Montgomery, Grant W, Mook-Kanamori, Dennis, Munroe, Patricia B, North, Kari E, Nyholt, Dale R, O’connell, Jeffery R, Ober, Carole, Oldehinkel, Albertine J, Palmas, Walter, Palmer, Colin, Pasterkamp, Gerard G, Patin, Etienne, Pennell, Craig E, Perusse, Louis, Peyser, Patricia A, Pirastu, Mario, Polderman, Tinca J. C., Porteous, David J, Posthuma, Danielle, Psaty, Bruce M, Rioux, John D, Rivadeneira, Fernando, Rotimi, Charles, Rotter, Jerome I, Rudan, Igor, Den Ruijter, Hester M, Sanghera, Dharambir K, Sattar, Naveed, Schmidt, Reinhold, Schulze, Matthias B, Schunkert, Heribert, Scott, Robert A, Shuldiner, Alan R, Sim, Xueling, Small, Neil, Smith, Jennifer A, Sotoodehnia, Nona, Tai, E-Shyong, Teumer, Alexander, Timpson, Nicholas J, Toniolo, Daniela, Tregouet, David-Alexandre, Tuomi, Tiinamaija, Vollenweider, Peter, Wang, Carol A, Weir, David R, Whitfield, John B, Wijmenga, Cisca, Wong, Tien-Yin, Wright, John, Yang, Jingyun, Yu, Lei, Zemel, Babette S, Zonderman, Alan B, Perola, Markus, Magnusson, Patrik K. E., Uitterlinden, André G, Kooner, Jaspal S, Chasman, Daniel I, Loos, Ruth J. F., Franceschini, Nora, Franke, Lude, Haley, Chris S, Hayward, Caroline, Walters, Robin G, Perry, John R. B., Esko, Tōnu, Helgason, Agnar, Stefansson, Kari, Joshi, Peter K, Kubo, Michiaki, and Wilson, James F
Subjects: 631/208/1397, 631/208/730, article, 631/208/205, 631/208/721, 3. Good health
Abstract: In many species, the offspring of related parents suffer reduced reproductive success, a phenomenon known as inbreeding depression. In humans, the importance of this effect has remained unclear, partly because reproduction between close relatives is both rare and frequently associated with confounding social factors. Here, using genomic inbreeding coefficients (FROH) for >1.4 million individuals, we show that FROH is significantly associated (p < 0.0005) with apparently deleterious changes in 32 out of 100 traits analysed. These changes are associated with runs of homozygosity (ROH), but not with common variant homozygosity, suggesting that genetic variants associated with inbreeding depression are predominantly rare. The effect on fertility is striking: FROH equivalent to the offspring of first cousins is associated with a 55% decrease [95% CI 44–66%] in the odds of having children. Finally, the effects of FROH are confirmed within full-sibling pairs, where the variation in FROH is independent of all environmental confounding.

97. Associations of autozygosity with a broad range of human phenotypes

Author: Dennis O. Mook-Kanamori, Salma M. Wakil, Lisa R. Yanek, Dominique P.V. de Kleijn, Gert J. de Borst, Alison D. Murray, Kamran Guity, Vincent W. V. Jaddoe, Mario Pirastu, Carole Ober, Giuseppe Matullo, Charles N. Rotimi, Daniela Ruggiero, Teresa Tusié-Luna, Wolfgang Lieb, Chew-Kiat Heng, John R. B. Perry, Hortensia Moreno-Macías, Jie Zhou, John M. Starr, Juhani Junttila, Lei Yu, Danielle Posthuma, Marcus Dörr, Yingchang Lu, Jonathan P. Bradfield, Einat Granot-Hershkovitz, Karina Meidtner, Wouter van Rheenen, T Esko, Maris Alver, Wen-Jane Lee, Zhengming Chen, Jennifer A. Brody, Paolo Gasparini, Yii-Der Ida Chen, Cinzia Sala, Peter P. Pramstaller, Gauri Prasad, Nana Matoba, Natalie Terzikhan, Simonetta Guarrera, Bjarke Feenstra, Peter Vollenweider, Smeeta Shrestha, Yi-Jen Hung, Lilja Stefansdottir, David R. Weir, Felix R. Day, Antonietta Robino, Liang Zhang, Lluis Quintana-Murci, Nicholas J. Timpson, Robyn E Wootton, Xue W. Mei, Dharambir K. Sanghera, Gisli Masson, Debbie A Lawlor, Thomas Meitinger, Sharon L.R. Kardia, Peter K. Joshi, Frank J. A. van Rooij, Claude Bouchard, Cassandra N. Spracklen, Ken K. Ong, Taulant Muka, Guanjie Chen, Laura J. Scott, Walter Palmas, Daniel I. Chasman, Sarah E. Medland, Krista Fischer, Blair H. Smith, Jon K. Sigurdsson, Leon Straker, Clara Viberti, Yuan Shi, Louis Pérusse, Peter J. van der Most, Timo Tõnis Sikka, Chris Haley, Kuang Lin, Leif Groop, Hester M. den Ruijter, Hakon Hakonarson, Masato Akiyama, Stephan J. L. Bakker, Sonja I. Berndt, Jeffery R. O'Connell, Cisca Wijmenga, Daniele Cusi, Lorena Orozco, Kristjan H. S. Moore, Kevin Sandow, Stephen S. Rich, Stephanie J. Loomis, George Davey Smith, Cornelia M. van Duijn, Sharvari Rahul Shukla, Agnar Helgason, Thorsten Kessler, Anuj Goel, Dan Mason, David W. Clark, James S. Pankow, Simona Vaccargiu, Uwe Völker, Tamara B. Harris, Matthew A. Allison, Clicerio Gonzalez, Sarju Ralhan, I-Te Lee, Matthias Laudes, Yen-Feng Chiu, Neil Poulter, Benjamin Lehne, John Wright, Lawrence F. Bielak, Philip L. De Jager, Reinhold Schmidt, Ya Xing Wang, Matthias Nauck, Diana L. Cousminer, Patrick Deelen, Ani Manichaikul, Stephen J. Chanock, Anders Hamsten, Barry I. Freedman, Gudmar Thorleifsson, Peter Kraft, Ozren Polasek, Jie Yao, Yoshinori Murakami, Paul M. Ridker, Anubha Mahajan, Struan F.A. Grant, Claudia Schurmann, Bjarni Gunnarsson, Catriona L. K. Barnes, Jessica van Setten, Sandosh Padmanabhan, Alena Stančáková, Markus M. Lerch, Anuradha Jagadeesan, Franco Giulianini, Daniel F. Gudbjartsson, Dwaipayan Bharadwaj, Shengchao Alfred Li, Peter S. Sever, Trevor A. Mori, Albertine J. Oldehinkel, Koichi Matsuda, Xueling Sim, Evangelos Evangelou, André G. Uitterlinden, Pekka Jousilahti, Yukihide Momozawa, Ioanna Tzoulaki, Chao A. Hsiung, Ginevra Biino, Murielle Bochud, Hannele Mattsson, Ilja M. Nolte, Sarah H. Wild, Patricia B. Munroe, Jianjun Liu, Bruce M. Psaty, Giriraj R. Chandak, Masahiro Kanai, Tony R. Merriman, Teemu Palviainen, Rodney A. Lea, Janie Corley, Nicholas J. Wareham, Alan B. Zonderman, Makoto Hirata, Matthew J. Bixley, Caroline Hayward, Nora Franceschini, Kristel R van Eijk, Etienne Patin, Daniel Shriner, Niek Verweij, Xiuqing Guo, Fredrik Karpe, Ruth J. F. Loos, Tiinamaija Tuomi, Ashley van der Spek, Patricia A. Peyser, Jessica D. Faul, Christian Fuchsberger, David Cesarini, Alex S. F. Doney, Janine F. Felix, Cornelius A. Rietveld, Jagadish Vangipurapu, Tanguy Corre, Line Skotte, Rajkumar Dorajoo, Catherine Igartua, Meena Kumari, Nona Sotoodehnia, Leonard H. van den Berg, Najaf Amin, Dale R. Nyholt, Harry Campbell, Massimiliano Cocca, Scott D. Gordon, Patrik K. E. Magnusson, John C. Chambers, Traci M. Bartz, Mike A. Nalls, Tin Aung, Nduna Dzimiri, Colin N. A. Palmer, Rob M. van Dam, Johanna Kuusisto, Russell P. Tracy, Anna Damulina, Pierre-Emmanuel Morange, Sylvain Foisy, Jing Hua Zhao, Nicholas G. Martin, Ching-Yu Cheng, Mariaelisa Graff, Rashmi B. Prasad, Alice Stanton, David-Alexandre Trégouët, Yu Guo, Helen R. Warren, Lyn R. Griffiths, Weihua Meng, Annika Tillander, Christa Meisinger, Albert V. Smith, Mark I. McCarthy, Jingyun Yang, Marine Germain, Neil Small, Linda Broer, Vilmundur Gudnason, Gunnar K. Pálsson, Michele K. Evans, Alexander Teumer, Mark J. Caulfield, Giorgia Girotto, Thomas Lumley, Tinca J. C. Polderman, Wei Zhao, Carlos A. Aguilar-Salinas, Jari Lahti, Matthew L. Albert, Yechiel Friedlander, Veikko Salomaa, Iona Y Millwood, Jan H. Veldink, Archie Campbell, Andres Metspalu, Ulf Gyllensten, Grant W. Montgomery, Veronique Vitart, Jai Rup Singh, Saima Afaq, Alan R. Shuldiner, Miao-Li Chee, Adebowale Adeyemo, Jennifer A. Smith, David A. van Heel, Jaspal S. Kooner, Daniela Toniolo, Cristian Pattaro, Jerome I. Rotter, John Whitfield, Melissa C. Smart, Kari E. North, Salman M. Tajuddin, Tallapragada Divya Sri Priyanka, Christopher A. Haiman, Diane M. Becker, Bernhard K. Krämer, Paul Elliott, Lihua Wang, He Gao, Patrick Sulem, Jinyan Huang, Chiea Chuen Khor, Ruifang Li-Gao, Åsa Johansson, Winfried März, Shai Carmi, Ilaria Gandin, Eric Boerwinkle, Gardar Sveinbjornsson, Saskia P. Hagenaars, Sander W. van der Laan, Gerard Pasterkamp, E-Shyong Tai, Hagit Hochner, Yih Chung Tham, Kent D. Taylor, Kari Stefansson, Matt J. Neville, Craig E. Pennell, Yanchun Bao, Annelot M. Dekker, Helena Schmidt, Mehdi Hedayati, Joshua Elliott, Ian J. Deary, Iris E. Jansen, Judith B. Borja, Edith Hofer, Martin Gögele, Igor Rudan, Lude Franke, Matthias Munz, Folkert W. Asselbergs, Bengt Sennblad, Imo Hofer, John D. Rioux, Pim van der Harst, Bahareh Sedaghati-khayat, Giovanni Cugliari, Morris A. Swertz, Francine Grodstein, Erwin P. Bottinger, Carol A. Wang, Andre Franke, Brian F. Meyer, Adele M. Taylor, Klodian Dhana, Jian'an Luan, Constance Turman, Robert A. Scott, May E. Montasser, Alison Pattie, Marco Brumat, Liming Li, Heiner Boeing, Karen L. Mohlke, Clemens Baumbach, Bishwa Raj Sapkota, Unnur Thorsteinsdottir, Naveed Sattar, Amy R. Bentley, Matthias B. Schulze, Ivana Kolcic, Stella Trompet, Sarah E. Harris, Ayo P. Doumatey, Charumathi Sabanayagam, David Eccles, Mary F. Feitosa, Jost B. Jonas, Massimo Mezzavilla, Mark O. Goodarzi, David Ellinghaus, Heribert Schunkert, Christian Gieger, Heikki V. Huikuri, Lingyao Zeng, Johan G. Eriksson, Woon-Puay Koh, Yucheng Jia, Gurpreet Singh Wander, James F. Wilson, Torgny Karlsson, Steven C. Hunt, Weihua Zhang, Maria Pina Concas, Zoltán Kutalik, Rebecca Rohde, Chittaranjan S. Yajnik, Yasaman Saba, Dabeeru C. Rao, Robin G. Walters, Reedik Mägi, Marie Loh, Eero Vuoksimaa, Josyf C. Mychaleckyj, Katri Räikkönen, Philippe Goyette, M. Arfan Ikram, Alicia Huerta-Chagoya, David J. Porteous, Teresa Nutile, J. Wouter Jukema, Noha A. Yousri, Yoichiro Kamatani, Maryam S. Daneshpour, Babette S. Zemel, Rona J. Strawbridge, Tien Yin Wong, Claudia Langenberg, Amy Moore, Marcus E. Kleber, Fereidoun Azizi, Avner Halevy, Erika Salvi, Francis S. Collins, Markku Laakso, Tim Kacprowski, S. Sunna Ebenesersdóttir, William R. Scott, Michael Boehnke, Jin-Fang Chai, Markus Perola, Nicola Pirastu, Wayne Huey-Herng Sheu, Robert Karlsson, Lenore J. Launer, Lili Milani, Renée de Mutsert, Fernando Rivadeneira, David A. Bennett, Nicola D. Kerrison, Paolo Manunta, Graciela E. Delgado, Magnus Johannesson, Carolina Medina-Gomez, Alanna C. Morrison, Kay-Tee Khaw, Jian-Min Yuan, Jaakko Kaprio, Melanie Waldenberger, Ralf Ewert, Hugoline G. de Haan, Andrew A. Hicks, Yukinori Okada, Maria Sabater-Lleal, Marilyn C. Cornelis, Stephanie J. London, Federica Rizzi, Jeanette Erdmann, Marina Ciullo, Michiaki Kubo, University of Edinburgh, Broad Institute of MIT and Harvard (BROAD INSTITUTE), Harvard Medical School [Boston] (HMS)-Massachusetts Institute of Technology (MIT)-Massachusetts General Hospital [Boston], Osaka University Graduate School of Medicine, Laboratory for Cardiovascular Genomics and Informatics [Yokohama] (RIKEN IMS), RIKEN Center for Integrative Medical Sciences [Yokohama] (RIKEN IMS), RIKEN - Institute of Physical and Chemical Research [Japon] (RIKEN)-RIKEN - Institute of Physical and Chemical Research [Japon] (RIKEN), deCODE genetics [Reykjavik], Bradford Institute for Health Research, Bradford Teaching Hospitals NHS Foundation Trust, Bradford, UK (BIHR), Area Science Park, Università degli studi di Trieste = University of Trieste, MRC Epidemiology Unit, Institute of Metabolic Science, Addenbrooke's Hospital, Interfaculty Institute for Genetics and Functional Genomics, Universität Greifswald - University of Greifswald, Harbor UCLA Medical Center [Torrance, Ca.], Division of Preventive Medicine, Brigham and Women's Hospital, Boston, MA, Department of Electrical and Computer Engineering [Waterloo] (ECE), University of Waterloo [Waterloo], Department of Medical Epidemiology and Biostatistics (MEB), Karolinska Institutet [Stockholm], Institute of Pop. Genetics, CNR, Sassari, Shardna life science Pula Cagliari, Swiss Institute of Bioinformatics [Lausanne] (SIB), Université de Lausanne = University of Lausanne (UNIL), Medstar Research Institute, Florida State University [Tallahassee] (FSU), University Medical Center [Utrecht], Centre for Population Health Sciences, Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Research Unit on Cardiovascular and Metabolic Diseases (ICAN), Université Pierre et Marie Curie - Paris 6 (UPMC)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), California State University [Sacramento], Department of Thrombosis and Haemostasis, Leiden University Medical Center (LUMC), Universiteit Leiden-Universiteit Leiden, Medical University Graz, Department of Neurology, Alzheimer Centre, VU Medical Centre, Amsterdam, Vth Department of Medicine (Nephrology, Hypertensiology, Endocrinology, Diabetology, Rheumatology), Medical Faculty of Mannheim, University of Heidelberg, Heidelberg, Frederick National Laboratory for Cancer Research (FNLCR), Wellcome Trust Centre of Human Genetics, University of Oxford, Department of Epidemiology, German Institute of Human Nutrition, University Medical Center Groningen [Groningen] (UMCG), Institute of Genetics and Biophysics, National Research Council of Italy | Consiglio Nazionale delle Ricerche (CNR), Department of Medicine, Surgery, and Dentistry, University of Milano, Icelandic Heart Association, Kopavogur, Iceland., Department of Epidemiology [Rotterdam], Erasmus University Medical Center [Rotterdam] (Erasmus MC), University of Glasgow, Department of Cardiology, Leiden University Medical Center, Leiden, Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, Queen Mary University of London (QMUL), General Internal Medicine, Johns Hopkins School of Medicine, Johns Hopkins University School of Medicine [Baltimore], Institut de biologie moléculaire des plantes (IBMP), Université de Strasbourg (UNISTRA)-Centre National de la Recherche Scientifique (CNRS), Immunobiologie des Cellules dendritiques, Institut Pasteur [Paris] (IP)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de Recherche Translationnelle - Center for Translational Science (CRT), Institut Pasteur [Paris] (IP), Genentech, Inc., Genentech, Inc. [San Francisco], University of Tartu, Duke-NUS Medical School [Singapore], Deutsches Institut für Ernährungsforschung Potsdam-Rehbrücke (DifE), Leibniz Association, Human Genome Sequencing Center, Baylor College of Medicine, Baylor College of Medicine (BCM), Baylor University-Baylor University, University of San Carlos, Office of Population Studies Foundation, Icahn School of Medicine at Mount Sinai [New York] (MSSM), King‘s College London, Division of Cancer Epidemiology and Genetics, National Cancer Institute [Bethesda] (NCI-NIH), National Institutes of Health [Bethesda] (NIH)-National Institutes of Health [Bethesda] (NIH), University of Oxford, Vth Department of Medicine (Nephrology, Hypertensiology, Endocrinology, Diabetology, Rheumatology), Medical Faculty of Mannheim, University of Heidelberg, Division of Molecular & Clinical Medicine, University of Dundee, Ninewells Hospital and Medical School, Dundee, Department of Internal Medicine B, University Medicine Greifswald, Greifswald, University of Chicago, University of Huddersfield, Infectious diseases division, Department of internal medicine, Washington University in Saint Louis (WUSTL), Section on Nephrology [Winston-Salem, NC, USA] (Department of Internal Medicine), Wake Forest School of Medicine [Winston-Salem], Wake Forest Baptist Medical Center-Wake Forest Baptist Medical Center, Radcliffe Department of Medicine [Oxford], Harvard School of Public Health, Kunming University of Science and Technology (KMUST), Sans affiliation, University of Southern California (USC), National Institute on Aging [Bethesda, USA] (NIA), National Institutes of Health [Bethesda] (NIH), Centre National de Génotypage (CNG), Commissariat à l'énergie atomique et aux énergies alternatives (CEA), MRC Centrer for Nutritional Epidemiology and Cancer Prevention and Survival, University of Cambridge [UK] (CAM), National University of Singapore (NUS), Experimental Cardiology Laboratory (ECL), Unirversity Medical Center, Department of Medical Statistics, Epidemiology and Medical Informatics, University of Zagreb, Department of Medical Genetics, Department of Medicine, University of Eastern Finland-Kuopio University Hospital, MRC Epidemiology Unit, University of Cambridge [UK] (CAM)-Institute of Metabolic Science, Capital Normal University [Beijing], Saw Swee Hock School of Public Health, National Institute for Environmental Health Sciences Research Triangle Park, Brown University, MRC Epidemiology Unit, Institute of Metabolic Science, University of Cambridge School of Clinical Medicine, Cambridge, Toyota Research Institute, Helmholtz Zentrum München = German Research Center for Environmental Health, Department of Chemistry and Biochemistry [Boulder], University of Colorado [Boulder], Centre recherche en CardioVasculaire et Nutrition = Center for CardioVascular and Nutrition research (C2VN), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Hôpital de la Timone [CHU - APHM] (TIMONE), Metacohorts Consortium, Universiteit Leiden, Institute of Clinical Chemistry and Laboratory Medicine, University of Groningen [Groningen], Medical Research Concil Epidemiology Unit, Institute of Medical Science, Faculty of Medicine, Genetics and Pathology, Imperial College London, Génétique Evolutive Humaine - Human Evolutionary Genetics, Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS), Centre de Bioinformatique, Biostatistique et Biologie Intégrative (C3BI), Brigham and Women's Hospital [Boston], Erasmus University Rotterdam, Department of Chronic Disease Prevention, National Institute for Health and Welfare [Helsinki], Department of Biostatistics and Center for Statistical Genetics, University of Michigan [Ann Arbor], University of Michigan System-University of Michigan System-School of public health, The University of Hong Kong (HKU)-The University of Hong Kong (HKU), Stockholm Bioinformatics Center (SBC), Stockholm University, Department of Cardiology, Division Heart and Lungs, University Medical Center Utrecht, University of Utrecht, Utrecht, INRH, Department of Genetics, Los Angeles Biomedical Research Institute (LA BioMed), Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán - National Institute of Medical Science and Nutrition Salvador Zubiran [Mexico], Western General Hospital, German Research Center for Environmental Health - Helmholtz Center München (GmbH), Medical Research Council, Division of Cancer Control and Population Sciences, University of Pittsburgh Cancer Institute-University of Pittsburgh Graduate School of Public Health, Zhengzhou University of Light Industry, Department of Electrical and Electronic Engineering [Niigata Univ.], Niigata University, Genetic Epidemiology Unit, University College of London [London] (UCL), Aston Business School, Aston University [Birmingham], Division of Cancer Epidemiology and Genetics [Bethesda, MD, États-Unis], Centre Hospitalier Universitaire Vaudois (CHUV), Pennington Biomedical Research Center, University of Washington [Seattle], Guy's and St Thomas' Hospitals, Northwestern Polytechnical University [Xi'an] (NPU), Department of Social Medicine, University of Bristol [Bristol], Department of Genomics of Common Disease [London, UK], Imperial College London-Hammersmith Hospital NHS Imperial College Healthcare, Department of Internal Medicine, Institute of Clinical Molecular Biology, Kiel University, Medizinische Klinik II, Universität zu Lübeck = University of Lübeck [Lübeck], Clinical and Molecular Epidemiology Unit, Department of Hygiene and Epidemiology, University of Ioannina, Institute for Social Research, University of Michigan System-University of Michigan System, Division of Statistical Genomics, Washington University School of Medicine, Institute for Clinical Molecular Biology, Christian-Albrechts-Universität zu Kiel (CAU), Department of Physics, RISSC-Lab-University of Naples Federico II = Università degli studi di Napoli Federico II, Lund University [Lund], Icelandic Heart Association, Heart Preventive Clinic and Research Institute, The Center for Applied Genomics, Children’s Hospital of Philadelphia (CHOP ), Génétique moléculaire de la neurotransmission et des processus neurodégénératifs (LGMNPN), Université Pierre et Marie Curie - Paris 6 (UPMC)-Centre National de la Recherche Scientifique (CNRS), Medical Research Center Oulu, University of Oulu, University of Utah School of Medicine [Salt Lake City], The Generation R Study, Pediatrics, Epidemiology, Center for Translational and Computational Neuroimmunology [New York, NY, États-Unis] (CTCN), Department of Neurology [New York, NY, États-Unis], Columbia University Medical Center (CUMC), Columbia University [New York]-Columbia University [New York]-Columbia University Medical Center (CUMC), Columbia University [New York]-Columbia University [New York], Universität Heidelberg [Heidelberg] = Heidelberg University, Interuniversity Cardiology Institute Netherlands, School of Public Health, University of Michigan [Dearborn], Department of Epidemiology and Public Health, University of Kuopio, Helsingin yliopisto = Helsingfors universitet = University of Helsinki, Institute of Epidemiology and Biobank PopGen, Department of Biostatistics, University of Washington, Universidad Complutense de Madrid = Complutense University of Madrid [Madrid] (UCM), Clinical Institute of Medical and Chemical Laboratory Diagnostics, Karl-Franzens-Universität Graz, Department of Genetics, Biology and Biochemistry, Università degli studi di Torino = University of Turin (UNITO), Oxford Centre for Diabetes, Endocrinology and Metabolism (OCDEM), QIMR Berghofer Medical Research Institute, University of North Carolina [Chapel Hill] (UNC), University of North Carolina System (UNC)-University of North Carolina System (UNC), University of North Carolina System (UNC)-University of North Carolina System (UNC)-UNC Gillings School of Global Public Health-Carolina Center for Genome Sciences, University of Illinois [Chicago] (UIC), University of Illinois System, Experimental Cardiology Laboratory, Genetic Epidemiology and Clinical Research Group, Umea University Hospital, Functional Genomics, Erasmus Medical Centre, National Human Genome Research Institute (NHGRI), School of Medicine [Los Angeles], University of California [Los Angeles] (UCLA), University of California (UC)-University of California (UC), Department of Pathological Biochemistry, Royal Infirmary, German Institute of Human Nutrition Potsdam-Rehbrücke (DIfE), Institute of Metabolic Science, MRC, University of Maryland School of Medicine [Baltimore, MD, USA], Centre for Molecular Epidemiology, Centre for Causal Analyses in Translational Epidemiology, University of Bristol [Bristol]-Medical Research Council, IRCCS San Raffaele Scientific Institute [Milan, Italie], U937, Génomique cardiovasculaire, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Bordeaux population health (BPH), Université de Bordeaux (UB)-Institut de Santé Publique, d'Épidémiologie et de Développement (ISPED)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Universitaire Vaudois [Lausanne] (CHUV), University of Michigan System, HMNC Brain Health, Singapore Eye Research Institute, Partenaires INRAE, Institut d'Électronique et des Technologies du numéRique (IETR), Université de Nantes (UN)-Université de Rennes (UR)-Institut National des Sciences Appliquées - Rennes (INSA Rennes), Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-CentraleSupélec-Centre National de la Recherche Scientifique (CNRS), Institute for Molecular Medicine Finland [Helsinki] (FIMM), Helsinki Institute of Life Science (HiLIFE), Helsingin yliopisto = Helsingfors universitet = University of Helsinki-Helsingin yliopisto = Helsingfors universitet = University of Helsinki, Department of Psychiatry and Psychotherapy, Rheinische Friedrich-Wilhelms-Universität Bonn, University of Groningen, Department of Genomics of Common Disease, Department of Microbiology, The Freeman Hospital, Department Biostatistics University of North Carolina, Complex Trait Genetics, Amsterdam Neuroscience - Complex Trait Genetics, Clark, D. W., Okada, Y., Moore, K. H. S., Mason, D., Pirastu, N., Gandin, I., Mattsson, H., Barnes, C. L. K., Lin, K., Zhao, J. H., Deelen, P., Rohde, R., Schurmann, C., Guo, X., Giulianini, F., Zhang, W., Medina-Gomez, C., Karlsson, R., Bao, Y., Bartz, T. M., Baumbach, C., Biino, G., Bixley, M. J., Brumat, M., Chai, J. -F., Corre, T., Cousminer, D. L., Dekker, A. M., Eccles, D. A., van Eijk, K. R., Fuchsberger, C., Gao, H., Germain, M., Gordon, S. D., de Haan, H. G., Harris, S. E., Hofer, E., Huerta-Chagoya, A., Igartua, C., Jansen, I. E., Jia, Y., Kacprowski, T., Karlsson, T., Kleber, M. E., Li, S. A., Li-Gao, R., Mahajan, A., Matsuda, K., Meidtner, K., Meng, W., Montasser, M. E., van der Most, P. J., Munz, M., Nutile, T., Palviainen, T., Prasad, G., Prasad, R. B., Priyanka, T. D. S., Rizzi, F., Salvi, E., Sapkota, B. R., Shriner, D., Skotte, L., Smart, M. C., Smith, A. V., van der Spek, A., Spracklen, C. N., Strawbridge, R. J., Tajuddin, S. M., Trompet, S., Turman, C., Verweij, N., Viberti, C., Wang, L., Warren, H. R., Wootton, R. E., Yanek, L. R., Yao, J., Yousri, N. A., Zhao, W., Adeyemo, A. A., Afaq, S., Aguilar-Salinas, C. A., Akiyama, M., Albert, M. L., Allison, M. A., Alver, M., Aung, T., Azizi, F., Bentley, A. R., Boeing, H., Boerwinkle, E., Borja, J. B., de Borst, G. J., Bottinger, E. P., Broer, L., Campbell, H., Chanock, S., Chee, M. -L., Chen, G., Chen, Y. -D. I., Chen, Z., Chiu, Y. -F., Cocca, M., Collins, F. S., Concas, M. P., Corley, J., Cugliari, G., van Dam, R. M., Damulina, A., Daneshpour, M. S., Day, F. R., Delgado, G. E., Dhana, K., Doney, A. S. F., Dorr, M., Doumatey, A. P., Dzimiri, N., Ebenesersdottir, S. S., Elliott, J., Elliott, P., Ewert, R., Felix, J. F., Fischer, K., Freedman, B. I., Girotto, G., Goel, A., Gogele, M., Goodarzi, M. O., Graff, M., Granot-Hershkovitz, E., Grodstein, F., Guarrera, S., Gudbjartsson, D. F., Guity, K., Gunnarsson, B., Guo, Y., Hagenaars, S. P., Haiman, C. A., Halevy, A., Harris, T. B., Hedayati, M., van Heel, D. A., Hirata, M., Hofer, I., Hsiung, C. A., Huang, J., Hung, Y. -J., Ikram, M. A., Jagadeesan, A., Jousilahti, P., Kamatani, Y., Kanai, M., Kerrison, N. D., Kessler, T., Khaw, K. -T., Khor, C. C., de Kleijn, D. P. V., Koh, W. -P., Kolcic, I., Kraft, P., Kramer, B. K., Kutalik, Z., Kuusisto, J., Langenberg, C., Launer, L. J., Lawlor, D. A., Lee, I. -T., Lee, W. -J., Lerch, M. M., Li, L., Liu, J., Loh, M., London, S. J., Loomis, S., Lu, Y., Luan, J., Magi, R., Manichaikul, A. W., Manunta, P., Masson, G., Matoba, N., Mei, X. W., Meisinger, C., Meitinger, T., Mezzavilla, M., Milani, L., Millwood, I. Y., Momozawa, Y., Moore, A., Morange, P. -E., Moreno-Macias, H., Mori, T. A., Morrison, A. C., Muka, T., Murakami, Y., Murray, A. D., de Mutsert, R., Mychaleckyj, J. C., Nalls, M. A., Nauck, M., Neville, M. J., Nolte, I. M., Ong, K. K., Orozco, L., Padmanabhan, S., Palsson, G., Pankow, J. S., Pattaro, C., Pattie, A., Polasek, O., Poulter, N., Pramstaller, P. P., Quintana-Murci, L., Raikkonen, K., Ralhan, S., Rao, D. C., van Rheenen, W., Rich, S. S., Ridker, P. M., Rietveld, C. A., Robino, A., van Rooij, F. J. A., Ruggiero, D., Saba, Y., Sabanayagam, C., Sabater-Lleal, M., Sala, C. F., Salomaa, V., Sandow, K., Schmidt, H., Scott, L. J., Scott, W. R., Sedaghati-Khayat, B., Sennblad, B., van Setten, J., Sever, P. J., Sheu, W. H. -H., Shi, Y., Shrestha, S., Shukla, S. R., Sigurdsson, J. K., Sikka, T. T., Singh, J. R., Smith, B. H., Stancakova, A., Stanton, A., Starr, J. M., Stefansdottir, L., Straker, L., Sulem, P., Sveinbjornsson, G., Swertz, M. A., Taylor, A. M., Taylor, K. D., Terzikhan, N., Tham, Y. -C., Thorleifsson, G., Thorsteinsdottir, U., Tillander, A., Tracy, R. P., Tusie-Luna, T., Tzoulaki, I., Vaccargiu, S., Vangipurapu, J., Veldink, J. H., Vitart, V., Volker, U., Vuoksimaa, E., Wakil, S. M., Waldenberger, M., Wander, G. S., Wang, Y. X., Wareham, N. 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C. [0000-0001-5564-301X], Porteous, David J [0000-0003-1249-6106], Rioux, John D [0000-0001-7560-8326], Rivadeneira, Fernando [0000-0001-9435-9441], Rotimi, Charles [0000-0001-5759-053X], Rotter, Jerome I [0000-0001-7191-1723], Rudan, Igor [0000-0001-6993-6884], Sattar, Naveed [0000-0002-1604-2593], Sim, Xueling [0000-0002-1233-7642], Smith, Jennifer A [0000-0002-3575-5468], Teumer, Alexander [0000-0002-8309-094X], Timpson, Nicholas J [0000-0002-7141-9189], Tuomi, Tiinamaija [0000-0002-8306-6202], Wang, Carol A [0000-0002-4301-3974], Weir, David R [0000-0002-1661-2402], Whitfield, John B [0000-0002-1103-0876], Magnusson, Patrik K. E. [0000-0002-7315-7899], Uitterlinden, André G [0000-0002-7276-3387], Loos, Ruth J. F. [0000-0002-8532-5087], Franke, Lude [0000-0002-5159-8802], Haley, Chris S [0000-0002-9811-0210], Hayward, Caroline [0000-0002-9405-9550], Walters, Robin G [0000-0002-9179-0321], Joshi, Peter K [0000-0002-6361-5059], Wilson, James F [0000-0001-5751-9178], Apollo - University of Cambridge Repository, Moore, Kristjan HS [0000-0002-9579-4362], Luan, Jian'an [0000-0003-3137-6337], Grant, Struan FA [0000-0003-2025-5302], Jaddoe, Vincent WV [0000-0003-2939-0041], Polderman, Tinca JC [0000-0001-5564-301X], Magnusson, Patrik KE [0000-0002-7315-7899], Loos, Ruth JF [0000-0002-8532-5087], Neurology, Human genetics, Amsterdam Reproduction & Development (AR&D), Life Course Epidemiology (LCE), Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI), Groningen Institute for Organ Transplantation (GIOT), Lifestyle Medicine (LM), Groningen Kidney Center (GKC), Cardiovascular Centre (CVC), Interdisciplinary Centre Psychopathology and Emotion regulation (ICPE), Stem Cell Aging Leukemia and Lymphoma (SALL), Institute for Molecular Medicine Finland, Department of Psychology and Logopedics, University Management, Developmental Psychology Research Group, Staff Services, Cognitive and Brain Aging, Research Programs Unit, Diabetes and Obesity Research Program, Johan Eriksson / Principal Investigator, Department of General Practice and Primary Health Care, Clinicum, University of Helsinki, Centre of Excellence in Complex Disease Genetics, Department of Public Health, Genetic Epidemiology, Helsinki Collegium for Advanced Studies, HUS Abdominal Center, Endokrinologian yksikkö, Bradford Teaching Hospitals NHS Foundation Trust [Bradford, UK] (BTHFT), University of Trieste, Université de Lausanne (UNIL), Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Institute of cardiometabolism and nutrition (ICAN), Consiglio Nazionale delle Ricerche (CNR), Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA), Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Pasteur [Paris], Institut Pasteur [Paris], University of Oxford [Oxford], Medical Genetics, Dept. RSD and Public Health, IRCCS-Burlo Garofolo/University of Trieste, sans affiliation, Helmholtz-Zentrum München (HZM), Institut Pasteur [Paris]-Centre National de la Recherche Scientifique (CNRS), Institute of Cardiovascular Science, University College London, Hammersmith Hospital NHS Imperial College Healthcare-Imperial College London, Universität zu Lübeck [Lübeck], University of Ioannina Medical School, Università degli studi di Napoli Federico II-RISSC-Lab, Universität Heidelberg [Heidelberg], University of Turin, University of California-University of California, Nantes Université (NU)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Institut National des Sciences Appliquées - Rennes (INSA Rennes), Institut National des Sciences Appliquées (INSA)-Université de Rennes (UNIV-RENNES)-Institut National des Sciences Appliquées (INSA)-CentraleSupélec-Centre National de la Recherche Scientifique (CNRS), University of Helsinki-University of Helsinki, Université de Nantes (UN)-Université de Rennes 1 (UR1), Erasmus MC other, Internal Medicine, and Applied Economics
Subjects: 0301 basic medicine, 631/208/1397, Chemistry(all), Health Status, [SDV]Life Sciences [q-bio], LOCI, General Physics and Astronomy, MESH: Haplotype, MESH: Cognition, 030105 genetics & heredity, Runs of Homozygosity, Biochemistry, Consanguinity, Cognition, Inbreeding depression, 2.1 Biological and endogenous factors, Body Size, Inbreeding, Skyldleikarækt, Aetiology, Human phenotypes, lcsh:Science, MESH: Health Status, Genetics, Multidisciplinary, Inbreeding Depression, Confounding, Homozygote, RUNS, 631/208/205, 631/208/721, 3. Good health, genomic inbreeding coefficients, MESH: Risk-Taking, 631/208/730, Autozygosit, homozygosity, Erfðarannsóknir, Medical Genetics, genomic inbreeding coefficient, MESH: Homozygote, Offspring, Science, Autozygosity, Blóðsifjar, 610 Medicine & health, Biology, INBREEDING DEPRESSION, HOMOZYGOSITY, FERTILITY, QUANTIFICATION, Physics and Astronomy(all), General Biochemistry, Genetics and Molecular Biology, Article, Association, 03 medical and health sciences, Risk-Taking, 360 Social problems & social services, Journal Article, Humans, ddc:610, Allele, Alleles, Medicinsk genetik, Genetic association study, MESH: Consanguinity, MESH: Body Size, MESH: Humans, Biochemistry, Genetics and Molecular Biology(all), MESH: Alleles, Haplotype, MESH: Fertility, General Chemistry, Brain Disorders, MESH: Inbreeding Depression, 030104 developmental biology, Fertility, Haplotypes, Genetic markers, lcsh:Q, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, 3111 Biomedicine, Genetics and Molecular Biology(all)
Abstract: Publisher's version (útgefin grein)., In many species, the offspring of related parents suffer reduced reproductive success, a phenomenon known as inbreeding depression. In humans, the importance of this effect has remained unclear, partly because reproduction between close relatives is both rare and frequently associated with confounding social factors. Here, using genomic inbreeding coefficients (FROH) for >1.4 million individuals, we show that FROH is significantly associated (p < 0.0005) with apparently deleterious changes in 32 out of 100 traits analysed. These changes are associated with runs of homozygosity (ROH), but not with common variant homozygosity, suggesting that genetic variants associated with inbreeding depression are predominantly rare. The effect on fertility is striking: FROH equivalent to the offspring of first cousins is associated with a 55% decrease [95% CI 44–66%] in the odds of having children. Finally, the effects of FROH are confirmed within full-sibling pairs, where the variation in FROH is independent of all environmental confounding., This paper is the work of the ROHgen consortium. We thank the Sigma T2D Consortium, whose members are detailed in Supplementary Note 3. We thank the UK Biobank Resource, approved under application 19655; we acknowledge funding from the UK Medical Research Council Human Genetics Unit and MRC Doctoral Training Programme in Precision Medicine. We also thank Neil Robertson, Wellcome Trust Centre for Human Genetics, Oxford, for use of his author details management software, Authorial. Finally, we thank all the participants, researchers and funders of ROHgen cohorts. Cohort-specific acknowledgements are in Supplementary Data 2; personal acknowledgements and disclosures are in Supplementary Note 2. We thank Rachel Edwards for administrative assistance.
Published: 2019
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98. Glycerol-3-phosphate activates ChREBP, FGF21 transcription and lipogenesis in Citrin Deficiency.

Author: Tiwari V, Jin B, Sun O, Lopez Gonzalez EDJ, Chen MH, Wu X, Shah H, Zhang A, Herman MA, Spracklen CN, Goodman RP, and Brenner C
Abstract: Citrin Deficiency (CD) is caused by inactivation of SLC25A13, a mitochondrial membrane protein required to move electrons from cytosolic NADH to the mitochondrial matrix in hepatocytes. People with CD do not like sweets. We discovered that SLC25A13 loss causes accumulation of glycerol-3-phosphate (G3P), which activates carbohydrate response element binding protein (ChREBP) to transcribe FGF21, which acts in the brain to restrain intake of sweets and alcohol, and to transcribe key genes of de novo lipogenesis. Mouse and human data establish G3P-ChREBP as a new mechanistic component of the Randle Cycle that contributes to metabolic dysfunction-associated steatotic liver disease (MASLD) and forms part of a system that communicates metabolic states from liver to brain in a manner that alters food and alcohol choices. The data provide a framework for understanding FGF21 induction in varied conditions, suggest ways to develop FGF21-inducing drugs, and drug candidates for both lean MASLD and support of urea cycle function in CD.
Published: 2024
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99. Associations of Combined Genetic and Lifestyle Risks with Incident Type 2 Diabetes in the UK Biobank.

Author: Zhao C, Hatzikotoulas K, Balasubramanian R, Bertone-Johnson E, Cai N, Huang L, Huerta-Chagoya A, Janiczek M, Ma C, Mandla R, Paluch A, Rayner NW, Southam L, Sturgeon SR, Suzuki K, Taylor HJ, VanKim N, Yin X, Lee CH, Collins F, and Spracklen CN
Abstract: Background: Type 2 diabetes (T2D) results from a complex interplay between genetic predisposition and lifestyle factors. Both genetic susceptibility and unhealthy lifestyle are known to be associated with elevated T2D risk. However, their combined effects on T2D risk are not well studied. We aimed to determine whether unhealthy modifiable health behaviors were associated with similar increases in the risk of incident T2D among individuals with different levels of genetic risk., Methods: We performed a genetic risk score (GRS) by lifestyle interaction analysis within 332,251 non-diabetic individuals at baseline from the UK Biobank. Multi-ancestry GRS were calculated by summing the effects of 783 T2D-associated variants and ranked into tertiles. We used baseline self-reported data on smoking, BMI, physical activity level, and diet quality to categorize participants as having a healthy, intermediate, or unhealthy lifestyle. Cox proportional hazards regression models were used to generate adjusted hazards ratios (HR) of T2D risk and associated 95% confidence intervals (CI)., Results: During follow-up (median 13.6 years), 13,128 (4.0%) participants developed T2D. GRS ( P < 0.001) and lifestyle classification ( P < 0.001) were independently associated with increased risk for T2D. Compared with healthy lifestyle, unhealthy lifestyle was associated with increased T2D risk in all genetic risk strata, with adjusted HR ranging from 7.11 (low genetic risk) to 16.33 (high genetic risk)., Conclusions: High genetic risk and unhealthy lifestyle were the most significant contributors to the development of T2D. Individuals at all levels of genetic risk can greatly mitigate their risk for T2D through lifestyle modifications.
Published: 2024
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100. Multi-omics characterization of type 2 diabetes associated genetic variation.

Author: Mandla R, Lorenz K, Yin X, Bocher O, Huerta-Chagoya A, Arruda AL, Piron A, Horn S, Suzuki K, Hatzikotoulas K, Southam L, Taylor H, Yang K, Hrovatin K, Tong Y, Lytrivi M, Rayner NW, Meigs JB, McCarthy MI, Mahajan A, Udler MS, Spracklen CN, Boehnke M, Vujkovic M, Rotter JI, Eizirik DL, Cnop M, Lickert H, Morris AP, Zeggini E, Voight BF, and Mercader JM
Abstract: Discerning the mechanisms driving type 2 diabetes (T2D) pathophysiology from genome-wide association studies (GWAS) remains a challenge. To this end, we integrated omics information from 16 multi-tissue and multi-ancestry expression, protein, and metabolite quantitative trait loci (QTL) studies and 46 multi-ancestry GWAS for T2D-related traits with the largest, most ancestrally diverse T2D GWAS to date. Of the 1,289 T2D GWAS index variants, 716 (56%) demonstrated strong evidence of colocalization with a molecular or T2D-related trait, implicating 657 cis -effector genes, 1,691 distal-effector genes, 731 metabolites, and 43 T2D-related traits. We identified 773 of these cis - and distal-effector genes using either expression QTL data from understudied ancestry groups or inclusion of T2D index variants enriched in underrepresented populations, emphasizing the value of increasing population diversity in functional mapping. Linking these variants, genes, metabolites, and traits into a network, we elucidated mechanisms through which T2D-associated variation may impact disease risk. Finally, we showed that drugs targeting effector proteins were enriched in those approved to treat T2D, highlighting the potential of these results to prioritize drug targets for T2D. These results represent a leap in the molecular characterization of T2D-associated genetic variation and will aid in translating genetic findings into novel therapeutic strategies., Competing Interests: Disclosures J.B.M is an academic associate for Quest Diagnostics Inc. Endocrine R&D. MIMcC is now an employee of Genentech and a holder of Roche stock.
Published: 2024
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338 results on '"Spracklen, Cassandra N"'

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