A saturated map of common genetic variants associated with human height
Creators: name: Yengo, Loïc
name: Vedantam, Sailaja
name: Marouli, Eirini
name: Sidorenko, Julia
name: Bartell, Eric
name: Sakaue, Saori
name: Graff, Marielisa
name: Eliasen, Anders U.
name: Jiang, Yunxuan
name: Raghavan, Sridharan
name: Miao, Jenkai
name: Arias, Joshua D.
name: Graham, Sarah E.
name: Mukamel, Ronen E.
name: Spracklen, Cassandra N.
name: Yin, Xianyong
name: Chen, Shyh-Huei
name: Ferreira, Teresa
name: Highland, Heather H.
name: Ji, Yingjie
name: Karaderi, Tugce
name: Lin, Kuang
name: Lüll, Kreete
name: Malden, Deborah E.
name: Medina-Gomez, Carolina
name: Machado, Moara
name: Moore, Amy
name: Rüeger, Sina
name: Sim, Xueling
name: Vrieze, Scott
name: Ahluwalia, Tarunveer S.
name: Akiyama, Masato
name: Allison, Matthew A.
name: Alvarez, Marcus
name: Andersen, Mette K.
name: Ani, Alireza
name: Appadurai, Vivek
name: Arbeeva, Liubov
name: Bhaskar, Seema
name: Bielak, Lawrence F.
name: Bollepalli, Sailalitha
name: Bonnycastle, Lori L.
name: Bork-Jensen, Jette
name: Bradfield, Jonathan P.
name: Bradford, Yuki
name: Braund, Peter S.
name: Brody, Jennifer A.
name: Burgdorf, Kristoffer S.
name: Cade, Brian E.
name: Cai, Hui
name: Cai, Qiuyin
name: Campbell, Archie
name: Cañadas-Garre, Marisa
name: Catamo, Eulalia
name: Chai, Jin-Fang
name: Chai, Xiaoran
name: Chang, Li-Ching
name: Chang, Yi-Cheng
name: Chen, Chien-Hsiun
name: Chesi, Alessandra
name: Choi, Seung Hoan
name: Chung, Ren-Hua
name: Cocca, Massimiliano
name: Concas, Maria Pina
name: Couture, Christian
name: Cuellar-Partida, Gabriel
name: Danning, Rebecca
name: Daw, E. Warwick
name: Degenhard, Frauke
name: Delgado, Graciela E.
name: Delitala, Alessandro
name: Demirkan, Ayse
name: Deng, Xuan
name: Devineni, Poornima
name: Dietl, Alexander
name: Dimitriou, Maria
name: Dimitrov, Latchezar
name: Dorajoo, Rajkumar
name: Ekici, Arif B.
name: Engmann, Jorgen E.
name: Fairhurst-Hunter, Zammy
name: Farmaki, Aliki-Eleni
name: Faul, Jessica D.
name: Fernandez-Lopez, Juan-Carlos
name: Forer, Lukas
name: Francescatto, Margherita
name: Freitag-Wolf, Sandra
name: Fuchsberger, Christian
name: Galesloot, Tessel E.
name: Gao, Yan
name: Gao, Zishan
name: Geller, Frank
name: Giannakopoulou, Olga
name: Giulianini, Franco
name: Gjesing, Anette P.
name: Goel, Anuj
name: Gordon, Scott D.
name: Gorski, Mathias
name: Grove, Jakob
name: Guo, Xiuqing
name: Gustafsson, Stefan
name: Haessler, Jeffrey
name: Hansen, Thomas F.
name: Havulinna, Aki S.
name: Haworth, Simon J.
name: He, Jing
name: Heard-Costa, Nancy
name: Hebbar, Prashantha
name: Hindy, George
name: Ho, Yuk-Lam A.
name: Hofer, Edith
name: Holliday, Elizabeth
name: Horn, Katrin
name: Hornsby, Whitney E.
name: Hottenga, Jouke-Jan
name: Huang, Hongyan
name: Huang, Jie
name: Huerta-Chagoya, Alicia
name: Huffman, Jennifer E.
name: Hung, Yi-Jen
name: Huo, Shaofeng
name: Hwang, Mi Yeong
name: Iha, Hiroyuki
name: Ikeda, Daisuke D.
name: Isono, Masato
name: Jackson, Anne U.
name: Jäger, Susanne
name: Jansen, Iris E.
name: Johansson, Ingegerd
name: Jonas, Jost B.
name: Jonsson, Anna
name: Jørgensen, Torben
name: Kalafati, Ioanna-Panagiota
name: Kanai, Masahiro
name: Kanoni, Stavroula
name: Kårhus, Line L.
name: Kasturiratne, Anuradhani
name: Katsuya, Tomohiro
name: Kawaguchi, Takahisa
name: Kember, Rachel L.
name: Kentistou, Katherine A.
name: Kim, Han-Na
name: Kim, Young Jin
name: Kleber, Marcus E.
name: Knol, Maria J.
name: Kurbasic, Azra
name: Lauzon, Marie
name: Le, Phuong
name: Lea, Rodney
name: Lee, Jong-Young
name: Leonard, Hampton L.
name: Li, Shengchao A.
name: Li, Xiaohui
name: Li, Xiaoyin
name: Liang, Jingjing
name: Lin, Honghuang
name: Lin, Shih-Yi
name: Liu, Jun
name: Liu, Xueping
name: Lo, Ken Sin
name: Long, Jirong
name: Lores-Motta, Laura
name: Luan, Jian’an
name: Lyssenko, Valeriya
name: Lyytikäinen, Leo-Pekka
name: Mahajan, Anubha
name: Mamakou, Vasiliki
name: Mangino, Massimo
name: Manichaikul, Ani
name: Marten, Jonathan
name: Mattheisen, Manuel
name: Mavarani, Laven
name: McDaid, Aaron F.
name: Meidtner, Karina
name: Melendez, Tori L.
name: Mercader, Josep M.
name: Milaneschi, Yuri
name: Miller, Jason E.
name: Millwood, Iona Y.
name: Mishra, Pashupati P.
name: Mitchell, Ruth E.
name: Møllehave, Line T.
name: Morgan, Anna
name: Mucha, Soeren
name: Munz, Matthias
name: Nakatochi, Masahiro
name: Nelson, Christopher P.
name: Nethander, Maria
name: Nho, Chu Won
name: Nielsen, Aneta A.
name: Nolte, Ilja M.
name: Nongmaithem, Suraj S.
name: Noordam, Raymond
name: Ntalla, Ioanna
name: Nutile, Teresa
name: Pandit, Anita
name: Christofidou, Paraskevi
name: Pärna, Katri
name: Pauper, Marc
name: Petersen, Eva R. B.
name: Petersen, Liselotte V.
name: Pitkänen, Niina
name: Polašek, Ozren
name: Poveda, Alaitz
name: Preuss, Michael H.
name: Pyarajan, Saiju
name: Raffield, Laura M.
name: Rakugi, Hiromi
name: Ramirez, Julia
name: Rasheed, Asif
name: Raven, Dennis
name: Rayner, Nigel W.
name: Riveros, Carlos
name: Rohde, Rebecca
name: Ruggiero, Daniela
name: Ruotsalainen, Sanni E.
name: Ryan, Kathleen A.
name: Sabater-Lleal, Maria
name: Saxena, Richa
name: Scholz, Markus
name: Sendamarai, Anoop
name: Shen, Botong
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name: Shin, Jae Hun
name: Sidore, Carlo
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name: Slieker, Roderick C.
name: Smit, Roelof A. J.
name: Smith, Albert V.
name: Smith, Jennifer A.
name: Smyth, Laura J.
name: Southam, Lorraine
name: Steinthorsdottir, Valgerdur
name: Sun, Liang
name: Takeuchi, Fumihiko
name: Tallapragada, Divya Sri Priyanka
name: Taylor, Kent D.
name: Tayo, Bamidele O.
name: Tcheandjieu, Catherine
name: Terzikhan, Natalie
name: Tesolin, Paola
name: Teumer, Alexander
name: Theusch, Elizabeth
name: Thompson, Deborah J.
name: Thorleifsson, Gudmar
name: Timmers, Paul R. H. J.
name: Trompet, Stella
name: Turman, Constance
name: Vaccargiu, Simona
name: Van Der Laan, Sander W.
name: Van Der Most, Peter J.
name: Van Klinken, Jan B.
name: Van Setten, Jessica
name: Verma, Shefali S.
name: Verweij, Niek
name: Veturi, Yogasudha
name: Wang, Carol A.
name: Wang, Chaolong
name: Wang, Lihua
name: Wang, Zhe
name: Warren, Helen R.
name: Bin Wei, Wen
name: Wickremasinghe, Ananda R.
name: Wielscher, Matthias
name: Wiggins, Kerri L.
name: Winsvold, Bendik S.
name: Wong, Andrew
name: Wu, Yang
name: Wuttke, Matthias
name: Xia, Rui
name: Xie, Tian
name: Yamamoto, Ken
name: Yang, Jingyun
name: Yao, Jie
name: Young, Hannah
name: Yousri, Noha A.
name: Yu, Lei
name: Zeng, Lingyao
name: Zhang, Weihua
name: Zhang, Xinyuan
name: Zhao, Jing-Hua
name: Zhao, Wei
name: Zhou, Wei
name: Zimmermann, Martina E.
name: Zoledziewska, Magdalena
name: Adair, Linda S.
name: Adams, Hieab H. H.
name: Aguilar-Salinas, Carlos A.
name: Al-Mulla, Fahd
name: Arnett, Donna K.
name: Asselbergs, Folkert W.
name: Åsvold, Bjørn Olav
name: Attia, John
name: Banas, Bernhard
name: Bandinelli, Stefania
name: Bennett, David A.
name: Bergler, Tobias
name: Bharadwaj, Dwaipayan
name: Biino, Ginevra
name: Bisgaard, Hans
name: Boerwinkle, Eric
name: Böger, Carsten A.
name: Bønnelykke, Klaus
name: Boomsma, Dorret I.
name: Børglum, Anders D.
name: Borja, Judith B.
name: Bouchard, Claude
name: Bowden, Donald W.
name: Brandslund, Ivan
name: Brumpton, Ben
name: Buring, Julie E.
name: Caulfield, Mark J.
name: Chambers, John C.
name: Chandak, Giriraj R.
name: Chanock, Stephen J.
name: Chaturvedi, Nish
name: Chen, Yii-Der Ida
name: Chen, Zhengming
name: Cheng, Ching-Yu
name: Christophersen, Ingrid E.
name: Ciullo, Marina
name: Cole, John W.
name: Collins, Francis S.
name: Cooper, Richard S.
name: Cruz, Miguel
name: Cucca, Francesco
name: Cupples, L. Adrienne
name: Cutler, Michael J.
name: Damrauer, Scott M.
name: Dantoft, Thomas M.
name: De Borst, Gert J.
name: De Groot, Lisette C. P. G. M.
name: De Jager, Philip L.
name: De Kleijn, Dominique P. V.
name: Janaka De Silva, H.
name: Dedoussis, George V.
name: Den Hollander, Anneke I.
name: Du, Shufa
name: Easton, Douglas F.
name: Elders, Petra J. M.
name: Eliassen, A. Heather
name: Ellinor, Patrick T.
name: Elmståhl, Sölve
name: Erdmann, Jeanette
name: Evans, Michele K.
name: Fatkin, Diane
name: Feenstra, Bjarke
name: Feitosa, Mary F.
name: Ferrucci, Luigi
name: Ford, Ian
name: Fornage, Myriam
name: Franke, Andre
name: Franks, Paul W.
name: Freedman, Barry I.
name: Gasparini, Paolo
name: Gieger, Christian
name: Girotto, Giorgia
name: Goddard, Michael E.
name: Golightly, Yvonne M.
name: Gonzalez-Villalpando, Clicerio
name: Gordon-Larsen, Penny
name: Grallert, Harald
name: Grant, Struan F. A.
name: Grarup, Niels
name: Griffiths, Lyn
name: Gudnason, Vilmundur
name: Haiman, Christopher
name: Hakonarson, Hakon
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name: Hartman, Catharina A.
name: Hattersley, Andrew T.
name: Hayward, Caroline
name: Heckbert, Susan R.
name: Heng, Chew-Kiat
name: Hengstenberg, Christian
name: Hewitt, Alex W.
name: Hishigaki, Haretsugu
name: Hoyng, Carel B.
name: Huang, Paul L.
name: Huang, Wei
name: Hunt, Steven C.
name: Hveem, Kristian
name: Hyppönen, Elina
name: Iacono, William G.
name: Ichihara, Sahoko
name: Ikram, M. Arfan
name: Isasi, Carmen R.
name: Jackson, Rebecca D.
name: Jarvelin, Marjo-Riitta
name: Jin, Zi-Bing
name: Jöckel, Karl-Heinz
name: Joshi, Peter K.
name: Jousilahti, Pekka
name: Jukema, J. Wouter
name: Kähönen, Mika
name: Kamatani, Yoichiro
name: Kang, Kui Dong
name: Kaprio, Jaakko
name: Kardia, Sharon L. R.
name: Karpe, Fredrik
name: Kato, Norihiro
name: Kee, Frank
name: Kessler, Thorsten
name: Khera, Amit V.
name: Khor, Chiea Chuen
name: Kiemeney, Lambertus A. L. M.
name: Kim, Bong-Jo
name: Kim, Eung Kweon
name: Kim, Hyung-Lae
name: Kirchhof, Paulus
name: Kivimaki, Mika
name: Koh, Woon-Puay
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name: Kolovou, Genovefa D.
name: Kooner, Jaspal S.
name: Kooperberg, Charles
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name: Kraft, Peter
name: Krauss, Ronald M.
name: Kumari, Meena
name: Kutalik, Zoltan
name: Laakso, Markku
name: Lange, Leslie A.
name: Langenberg, Claudia
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name: Le Marchand, Loic
name: Lee, Hyejin
name: Lee, Nanette R.
name: Lehtimäki, Terho
name: Li, Huaixing
name: Li, Liming
name: Lieb, Wolfgang
name: Lin, Xu
name: Lind, Lars
name: Linneberg, Allan
name: Liu, Ching-Ti
name: Liu, Jianjun
name: Loeffler, Markus
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name: Magnusson, Patrik K. E.
name: Marcus, Gregory M.
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name: Matsuda, Fumihiko
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name: McKnight, Amy Jayne
name: Medland, Sarah E.
name: Mellström, Dan
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name: Mitchell, Braxton D.
name: Mitchell, Paul
name: Mook-Kanamori, Dennis O.
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name: Mucci, Lorelei A.
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name: Pedersen, Oluf
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name: Penninx, Brenda W. J. H.
name: Perusse, Louis
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name: Peyser, Patricia A.
name: Porteous, David J.
name: Posthuma, Danielle
name: Power, Chris
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name: Redline, Susan
name: Reilly, Dermot F.
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name: Ridker, Paul M.
name: Rienstra, Michiel
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name: Rosendaal, Frits R.
name: Rotter, Jerome I.
name: Rudan, Igor
name: Rutters, Femke
name: Sabanayagam, Charumathi
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name: Snieder, Harold
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name: Timpson, Nicholas J.
name: Tönjes, Anke
name: Tremblay, Angelo
name: Tuomi, Tiinamaija
name: Tuomilehto, Jaakko
name: Tusié-Luna, Maria-Teresa
name: Uitterlinden, Andre G.
name: Van Dam, Rob M.
name: Van Der Harst, Pim
name: Van Der Velde, Nathalie
name: Van Duijn, Cornelia M.
name: Van Schoor, Natasja M.
name: Vitart, Veronique
name: Völker, Uwe
name: Vollenweider, Peter
name: Völzke, Henry
name: Wacher-Rodarte, Niels H.
name: Walker, Mark
name: Wang, Ya Xing
name: Wareham, Nicholas J.
name: Watanabe, Richard M.
name: Watkins, Hugh
name: Weir, David R.
name: Werge, Thomas M.
name: Widen, Elisabeth
name: Wilkens, Lynne R.
name: Willemsen, Gonneke
name: Willett, Walter C.
name: Wilson, James F.
name: Wong, Tien-Yin
name: Woo, Jeong-Taek
name: Wright, Alan F.
name: Wu, Jer-Yuarn
name: Xu, Huichun
name: Yajnik, Chittaranjan S.
name: Yokota, Mitsuhiro
name: Yuan, Jian-Min
name: Zeggini, Eleftheria
name: Zemel, Babette S.
name: Zheng, Wei
name: Zhu, Xiaofeng
name: Zmuda, Joseph M.
name: Zonderman, Alan B.
name: Zwart, John-Anker
name: Chasman, Daniel I.
name: Cho, Yoon Shin
name: Heid, Iris M.
name: McCarthy, Mark I.
name: Ng, Maggie C. Y.
name: O’Donnell, Christopher J.
name: Rivadeneira, Fernando
name: Thorsteinsdottir, Unnur
name: Sun, Yan V.
name: Tai, E. Shyong
name: Boehnke, Michael
name: Deloukas, Panos
name: Justice, Anne E.
name: Lindgren, Cecilia M.
name: Loos, Ruth J. F.
name: Mohlke, Karen L.
name: North, Kari E.
name: Stefansson, Kari
name: Walters, Robin G.
name: Winkler, Thomas W.
name: Young, Kristin L.
name: Loh, Po-Ru
name: Yang, Jian
name: Esko, Tõnu
name: Assimes, Themistocles L.
name: Auton, Adam
name: Abecasis, Goncalo R.
name: Willer, Cristen J.
name: Locke, Adam E.
name: Berndt, Sonja I.
name: Lettre, Guillaume
name: Frayling, Timothy M.
name: Okada, Yukinori
name: Wood, Andrew R.
name: Visscher, Peter M.
name: Hirschhorn, Joel N.
Publisher: name: Apollo - University of Cambridge Repository
Year: 2022
Subjects: Article
/631/208/205/2138
/631/208/480
/631/208/721
/45/43
article

description: Abstract: 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 sizes1. 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 panel2) 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.