Yengo, Loic Vedantam, Sailaja Marouli, Eirini Sidorenko, Julia Bartell, Eric Sakaue, Saori Graff, Marielisa Eliasen, Anders U. Jiang, Yunxuan Raghavan, Sridharan Miao, Jenkai Arias, Joshua D. Graham, Sarah E. Mukamel, Ronen E. Spracklen, Cassandra N. Yin, Xianyong Chen, Shyh-Huei Ferreira, Teresa Highland, Heather H. Ji, Yingjie Karaderi, Tugce Lin, Kuang Lull, Kreete Malden, Deborah E. Medina-Gomez, Carolina Machado, Moara Moore, Amy Rueger, Sina Sim, Xueling Vrieze, Scott Ahluwalia, Tarunveer S. Akiyama, Masato Allison, Matthew A. Alvarez, Marcus Andersen, Mette K. Ani, Alireza Appadurai, Vivek Arbeeva, Liubov Bhaskar, Seema Bielak, Lawrence F. Bollepalli, Sailalitha Bonnycastle, Lori L. Bork-Jensen, Jette Bradfield, Jonathan P. Bradford, Yuki Braund, Peter S. Brody, Jennifer A. Burgdorf, Kristoffer S. Cade, Brian E. Cai, Hui Cai, Qiuyin Campbell, Archie Canadas-Garre, Marisa Catamo, Eulalia Chai, Jin-Fang Chai, Xiaoran Chang, Li-Ching Chang, Yi-Cheng Chen, Chien-Hsiun Chesi, Alessandra Choi, Seung Hoan Chung, Ren-Hua Cocca, Massimiliano Concas, Maria Pina Couture, Christian Cuellar-Partida, Gabriel Danning, Rebecca Daw, E. Warwick Degenhard, Frauke Delgado, Graciela E. Delitala, Alessandro Demirkan, Ayse Deng, Xuan Devineni, Poornima Dietl, Alexander Dimitriou, Maria Dimitrov, Latchezar Dorajoo, Rajkumar Ekici, Arif B. Engmann, Jorgen E. Fairhurst-Hunter, Zammy Farmaki, Aliki-Eleni Faul, Jessica D. Fernandez-Lopez, Juan-Carlos Forer, Lukas Francescatto, Margherita Freitag-Wolf, Sandra Fuchsberger, Christian Galesloot, Tessel E. Gao, Yan Gao, Zishan Geller, Frank Giannakopoulou, Olga Giulianini, Franco Gjesing, Anette P. Goel, Anuj Gordon, Scott D. Gorski, Mathias Grove, Jakob Guo, Xiuqing Gustafsson, Stefan Haessler, Jeffrey Hansen, Thomas F. Havulinna, Aki S. Haworth, Simon J. He, Jing Heard-Costa, Nancy Hebbar, Prashantha Hindy, George Ho, Yuk-Lam A. Hofer, Edith Holliday, Elizabeth Horn, Katrin Hornsby, Whitney E. Hottenga, Jouke-Jan Huang, Hongyan Huang, Jie Huerta-Chagoya, Alicia Huffman, Jennifer E. Hung, Yi-Jen Huo, Shaofeng Hwang, Mi Yeong Iha, Hiroyuki Ikeda, Daisuke D. Isono, Masato Jackson, Anne U. Jager, Susanne Jansen, Iris E. Johansson, Ingegerd Jonas, Jost B. Jonsson, Anna Jorgensen, Torben Kalafati, Ioanna-Panagiota Kanai, Masahiro Kanoni, Stavroula Karhus, Line L. Kasturiratne, Anuradhani Katsuya, Tomohiro Kawaguchi, Takahisa Kember, Rachel L. Kentistou, Katherine A. Kim, Han-Na Kim, Young Jin Kleber, Marcus E. Knol, Maria J. Kurbasic, Azra Lauzon, Marie Le, Phuong Lea, Rodney Lee, Jong-Young Leonard, Hampton L. Li, Shengchao A. Li, Xiaohui Li, Xiaoyin Liang, Jingjing Lin, Honghuang Lin, Shih-Yi Liu, Jun Liu, Xueping Lo, Ken Sin Long, Jirong Lores-Motta, Laura Luan, Jian'an Lyssenko, Valeriya Lyytikainen, Leo-Pekka Mahajan, Anubha Mamakou, Vasiliki Mangino, Massimo Manichaikul, Ani Marten, Jonathan Mattheisen, Manuel Mavarani, Laven McDaid, Aaron F. Meidtner, Karina Melendez, Tori L. Mercader, Josep M. Milaneschi, Yuri Miller, Jason E. Millwood, Iona Y. Mishra, Pashupati P. Mitchell, Ruth E. Mollehave, Line T. Morgan, Anna Mucha, Soeren Munz, Matthias Nakatochi, Masahiro Nelson, Christopher P. Nethander, Maria Nho, Chu Won Nielsen, Aneta A. Nolte, Ilja M. Nongmaithem, Suraj S. Noordam, Raymond Ntalla, Ioanna Nutile, Teresa Pandit, Anita Christofidou, Paraskevi Parna, Katri Pauper, Marc Petersen, Eva R. B. Petersen, Liselotte, V Pitkanen, Niina Polasek, Ozren Poveda, Alaitz Preuss, Michael H. Pyarajan, Saiju Raffield, Laura M. Rakugi, Hiromi Ramirez, Julia Rasheed, Asif Raven, Dennis Rayner, Nigel W. Riveros, Carlos Rohde, Rebecca Ruggiero, Daniela Ruotsalainen, Sanni E. Ryan, Kathleen A. Sabater-Lleal, Maria Saxena, Richa Scholz, Markus Sendamarai, Anoop Shen, Botong Shi, Jingchunzi Shin, Jae Hun Sidore, Carlo Sitlani, Colleen M. Slieker, Roderic K. C. Smit, Roelof A. J. Smith, Albert, V Smith, Jennifer A. Smyth, Laura J. Southam, Lorrain E. Steinthorsdottir, Valgerdur Sun, Liang Takeuchi, Fumihiko Tallapragada, Divyasripriyanka Taylor, Kent D. Tayo, Bamidele O. Tcheandjieu, Catherine Terzikhan, Natalie Tesolin, Paola Teumer, Alexander Theusch, Elizabeth Thompson, Deborah J. Thorleifsson, Gudmar Timmers, Paul R. H. J. Trompet, Stella Turman, Constance Vaccargiu, Simona van der Laan, Sander W. van der Most, Peter J. van Klinken, Jan B. van Setten, Jessica Verma, Shefali S. Verweij, Niek Veturi, Yogasudha Wang, Carol A. Wang, Chaolong Wang, Lihua Wang, Zhe Warren, Helen R. Wei, Wen Bin Wickremasinghe, Ananda R. Wielscher, Matthias Wiggins, Kerri L. Winsvold, Bendik S. Wong, Andrew Wu, Yang Wuttke, Matthias Xia, Rui Xie, Tian Yamamoto, Ken Yang, Jingyun Yao, Jie Young, Hannah Yousri, Noha A. Yu, Lei Zeng, Lingyao Zhang, Weihua Zhang, Xinyuan Zhao, Jing-Hua Zhao, Wei Zhou, Wei Zimmermann, Martina E. Zoledziewska, Magdalena Adair, Linda S. Adams, Hieab H. H. Aguilar-Salinas, Carlos A. Al-Mulla, Fahd Arnett, Donna K. Asselbergs, Folkert W. Asvold, Bjorn Olav Attia, John Banas, Bernhard Bandinelli, Stefania Bennett, David A. Bergler, Tobias Bharadwaj, Dwaipayan Biino, Ginevra Bisgaard, Hans Boerwinkle, Eric Boger, Carsten A. Bonnelykke, Klaus Boomsma, Dorret, I Borglum, Anders D. Borja, Judith B. Bouchard, Claude Bowden, Donald W. Brandslund, Ivan Brumpton, Ben Buring, Julie E. Caulfield, Mark J. Chambers, John C. Chandak, Giriraj R. Chanock, Stephen J. Chaturvedi, Nish Chen, Yii-Der Ida Chen, Zhengming Cheng, Ching-Yu Christophersen, Ingrid E. Ciullo, Marina Cole, John W. Collins, Francis S. Cooper, Richard S. Cruz, Miguel Cucca, Francesco Cupples, L. 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Lehtimaki, Terho Li, Huaixing Li, Liming Lieb, Wolfgang Lin, Xu Lind, Lars Linneberg, Allan Liu, Ching-Ti Liu, Jianjun Loeffler, Markus London, Barry Lubitz, Steven A. Lye, Stephen J. Mackey, David A. Magi, Reedik Magnusson, Patrik K. E. Marcus, Gregory M. Vidal, Pedro Marques Martin, Nicholas G. Marz, Winfried Matsuda, Fumihiko McGarrah, Robert W. McGue, Matt McKnight, Amy Jayne Medland, Sarah E. Mellstrom, Dan Metspalu, Andres Mitchell, Braxton D. Mitchell, Paul Mook-Kanamori, Dennis O. Morris, Andrew D. Mucci, Lorelei A. Munroe, Patricia B. Nalls, Mike A. Nazarian, Saman Nelson, Amanda E. Neville, Matt J. Newton-Cheh, Christopher Nielsen, Christopher S. Nothen, Markus M. Ohlsson, Claes Oldehinkel, Albertine J. Orozco, Lorena Pahkala, Katja Pajukanta, Paivi Palmer, Colin N. A. Parra, Esteban J. Pattaro, Cristian Pedersen, Oluf Pennell, Craig E. Penninx, Brenda W. J. H. Perusse, Louis Peters, Annette Peyser, Patricia A. Porteous, David J. 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Timpson, Nicholas J. Tonjes, Anke Tremblay, Angelo Tuomi, Tiinamaija Tuomilehto, Jaakko Tusie-Luna, Maria-Teresa Uitterlinden, Andre G. van Dam, Rob M. van der Harst, Pim Van der Velde, Nathalie van Duijn, Cornelia M. van Schoor, Natasja M. Vitart, Veronique Volker, Uwe Vollenweider, Peter Volzke, Henry Wacher-Rodarte, Niels H. Walker, Mark Wang, Ya Xing Wareham, Nicholas J. Watanabe, Richard M. Watkins, Hugh Weir, David R. Werge, Thomas M. Widen, Elisabeth Wilkens, Lynne R. Willemsen, Gonneke Willett, Walter C. Wilson, James F. Wong, Tien-Yin Woo, Jeong-Taek Wright, Alan F. Wu, Jer-Yuarn Xu, Huichun Yajnik, Chittaranjan S. Yokota, Mitsuhiro Yuan, Jian-Min Zeggini, Eleftheria Zemel, Babette S. Zheng, Wei Zhu, Xiaofeng Zmuda, Joseph M. Zonderman, Alan B. Zwart, John-Anker Chasman, Daniel, I Cho, Yoon Shin Heid, Iris M. McCarthy, Mark, I Ng, Maggie C. Y. O'Donnell, Christopher J. Rivadeneira, Fernando Thorsteinsdottir, Unnur Sun, Yan, V Tai, E. Shyong Boehnke, Michael Deloukas, Panos Justice, Anne E. Lindgren, Cecilia M. Loos, Ruth J. F. Mohlke, Karen L. North, Kari E. Stefansson, Kari Walters, Robin G. Winkler, Thomas W. Young, Kristin L. Loh, Po-Ru Yang, Jian Esko, Tonu Assimes, Themistocles L. Auton, Adam Abecasis, Goncalo R. Willer, Cristen J. Locke, Adam E. Berndt, Sonja, I Lettre, Guillaume Frayling, Timothy M. Okada, Yukinori Wood, Andrew R. Visscher, Peter M. Hirschhorn, Joel N. 2024-01-19T11:01:55Z 2024-01-19T11:01:55Z 2022-10-27 2022-10 0028-0836 https://pubs.kist.re.kr/handle/201004/114476 Common single-nucleotide polymorphisms (SNPs) are predicted to collectively explain 40-50% of phenotypic variation in human height, but identifying the specific variants and associated regions requires huge sample sizes(1). Here, using data from a genome-wide association study of 5.4 million individuals of diverse ancestries, we show that 12,111 independent SNPs that are significantly associated with height account for nearly all of the common SNP-based heritability. These SNPs are clustered within 7,209 non-overlapping genomic segments with a mean size of around 90 kb, covering about 21% of the genome. The density of independent associations varies across the genome and the regions of increased density are enriched for biologically relevant genes. In out-of-sample estimation and prediction, the 12,111 SNPs (or all SNPs in the HapMap 3 panel(2)) account for 40% (45%) of phenotypic variance in populations of European ancestry but only around 10-20% (14-24%) in populations of other ancestries. Effect sizes, associated regions and gene prioritization are similar across ancestries, indicating that reduced prediction accuracy is likely to be explained by linkage disequilibrium and differences in allele frequency within associated regions. Finally, we show that the relevant biological pathways are detectable with smaller sample sizes than are needed to implicate causal genes and variants. Overall, this study provides a comprehensive map of specific genomic regions that contain the vast majority of common height-associated variants. Although this map is saturated for populations of European ancestry, further research is needed to achieve equivalent saturation in other ancestries. A large genome-wide association study of more than 5 million individuals reveals that 12,111 single-nucleotide polymorphisms account for nearly all the heritability of height attributable to common genetic variants. English Nature Publishing Group A saturated map of common genetic variants associated with human height Article 10.1038/s41586-022-05275-y 1 Nature, v.610, no.7933, pp.704 - 712 Nature 610 7933 704 712 Y scie scopus 000866362700001 Multidisciplinary Sciences Science & Technology - Other Topics Article; Early Access GENOME-WIDE ASSOCIATION UK BIOBANK RARE HERITABILITY GWAS ARCHITECTURE IMPUTATION RESOURCE REVEALS SCORES