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  1. Article ; Online: A saturated map of common genetic variants associated with human height

    Yengo, Loïc / 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 / Lüll, Kreete / Malden, Deborah E. / Medina-Gomez, Carolina / Machado, Moara / Moore, Amy / Rüeger, Sina / Sim, Xueling / Vrieze, Scott / Ahluwalia, Tarunveer S. / Akiyama, Masato / Allison, Matthew A. / Alvarez, Marcus / Andersen, Mette K. / Ani, Alireza / Appadurai, Vivek / Arbeeva, Liubov / Hansen, Thomas F. / Huang, Jie / Liu, Jun / Pauper, Marc / van Klinken, Jan B. / Wang, Zhe / Zhao, Wei / Caulfield, Mark J. / de Groot, Lisette C.P.G.M. / Huang, Wei / van Dam, Rob M. / Wang, Ya Xing

    Nature

    2022  Volume 610

    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- ... ...

    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.
    Keywords Life Science
    Language English
    Publishing country nl
    Document type Article ; Online
    ZDB-ID 120714-3
    ISSN 1476-4687 ; 0028-0836
    ISSN (online) 1476-4687
    ISSN 0028-0836
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  2. Article ; Online: A saturated map of common genetic variants associated with human height.

    Yengo, Loïc / 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 / Lüll, Kreete / Malden, Deborah E / Medina-Gomez, Carolina / Machado, Moara / Moore, Amy / Rüeger, 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 / Cañadas-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 / Jäger, Susanne / Jansen, Iris E / Johansson, Ingegerd / Jonas, Jost B / Jonsson, Anna / Jørgensen, Torben / Kalafati, Ioanna-Panagiota / Kanai, Masahiro / Kanoni, Stavroula / Kårhus, 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 / Lyytikäinen, 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 / Møllehave, 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 / Pärna, Katri / Pauper, Marc / Petersen, Eva R B / Petersen, Liselotte V / Pitkänen, Niina / Polašek, 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, Roderick C / Smit, Roelof A J / Smith, Albert V / Smith, Jennifer A / Smyth, Laura J / Southam, Lorraine / Steinthorsdottir, Valgerdur / Sun, Liang / Takeuchi, Fumihiko / Tallapragada, Divya Sri Priyanka / 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 / Bin Wei, Wen / 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 / Åsvold, Bjørn Olav / Attia, John / Banas, Bernhard / Bandinelli, Stefania / Bennett, David A / Bergler, Tobias / Bharadwaj, Dwaipayan / Biino, Ginevra / Bisgaard, Hans / Boerwinkle, Eric / Böger, Carsten A / Bønnelykke, Klaus / Boomsma, Dorret I / Børglum, 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 Adrienne / Cutler, Michael J / Damrauer, Scott M / Dantoft, Thomas M / de Borst, Gert J / de Groot, Lisette C P G M / De Jager, Philip L / de Kleijn, Dominique P V / Janaka de Silva, H / Dedoussis, George V / den Hollander, Anneke I / Du, Shufa / Easton, Douglas F / Elders, Petra J M / Eliassen, A Heather / Ellinor, Patrick T / Elmståhl, Sölve / Erdmann, Jeanette / Evans, Michele K / Fatkin, Diane / Feenstra, Bjarke / Feitosa, Mary F / Ferrucci, Luigi / Ford, Ian / Fornage, Myriam / Franke, Andre / Franks, Paul W / Freedman, Barry I / Gasparini, Paolo / Gieger, Christian / Girotto, Giorgia / Goddard, Michael E / Golightly, Yvonne M / Gonzalez-Villalpando, Clicerio / Gordon-Larsen, Penny / Grallert, Harald / Grant, Struan F A / Grarup, Niels / Griffiths, Lyn / Gudnason, Vilmundur / Haiman, Christopher / Hakonarson, Hakon / Hansen, Torben / Hartman, Catharina A / Hattersley, Andrew T / Hayward, Caroline / Heckbert, Susan R / Heng, Chew-Kiat / Hengstenberg, Christian / Hewitt, Alex W / Hishigaki, Haretsugu / Hoyng, Carel B / Huang, Paul L / Huang, Wei / Hunt, Steven C / Hveem, Kristian / Hyppönen, Elina / Iacono, William G / Ichihara, Sahoko / Ikram, M Arfan / Isasi, Carmen R / Jackson, Rebecca D / Jarvelin, Marjo-Riitta / Jin, Zi-Bing / Jöckel, Karl-Heinz / Joshi, Peter K / Jousilahti, Pekka / Jukema, J Wouter / Kähönen, Mika / Kamatani, Yoichiro / Kang, Kui Dong / Kaprio, Jaakko / Kardia, Sharon L R / Karpe, Fredrik / Kato, Norihiro / Kee, Frank / Kessler, Thorsten / Khera, Amit V / Khor, Chiea Chuen / Kiemeney, Lambertus A L M / Kim, Bong-Jo / Kim, Eung Kweon / Kim, Hyung-Lae / Kirchhof, Paulus / Kivimaki, Mika / Koh, Woon-Puay / Koistinen, Heikki A / Kolovou, Genovefa D / Kooner, Jaspal S / Kooperberg, Charles / Köttgen, Anna / Kovacs, Peter / Kraaijeveld, Adriaan / Kraft, Peter / Krauss, Ronald M / Kumari, Meena / Kutalik, Zoltan / Laakso, Markku / Lange, Leslie A / Langenberg, Claudia / Launer, Lenore J / Le Marchand, Loic / Lee, Hyejin / Lee, Nanette R / Lehtimäki, 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 / Mägi, Reedik / Magnusson, Patrik K E / Marcus, Gregory M / Vidal, Pedro Marques / Martin, Nicholas G / März, Winfried / Matsuda, Fumihiko / McGarrah, Robert W / McGue, Matt / McKnight, Amy Jayne / Medland, Sarah E / Mellström, 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 / Nöthen, Markus M / Ohlsson, Claes / Oldehinkel, Albertine J / Orozco, Lorena / Pahkala, Katja / Pajukanta, Päivi / 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 / Posthuma, Danielle / Power, Chris / Pramstaller, Peter P / Province, Michael A / Qi, Qibin / Qu, Jia / Rader, Daniel J / Raitakari, Olli T / Ralhan, Sarju / Rallidis, Loukianos S / Rao, Dabeeru C / Redline, Susan / Reilly, Dermot F / Reiner, Alexander P / Rhee, Sang Youl / Ridker, Paul M / Rienstra, Michiel / Ripatti, Samuli / Ritchie, Marylyn D / Roden, Dan M / Rosendaal, Frits R / Rotter, Jerome I / Rudan, Igor / Rutters, Femke / Sabanayagam, Charumathi / Saleheen, Danish / Salomaa, Veikko / Samani, Nilesh J / Sanghera, Dharambir K / Sattar, Naveed / Schmidt, Börge / Schmidt, Helena / Schmidt, Reinhold / Schulze, Matthias B / Schunkert, Heribert / Scott, Laura J / Scott, Rodney J / Sever, Peter / Shiroma, Eric J / Shoemaker, M Benjamin / Shu, Xiao-Ou / Simonsick, Eleanor M / Sims, Mario / Singh, Jai Rup / Singleton, Andrew B / Sinner, Moritz F / Smith, J Gustav / Snieder, Harold / Spector, Tim D / Stampfer, Meir J / Stark, Klaus J / Strachan, David P / 't Hart, Leen M / Tabara, Yasuharu / Tang, Hua / Tardif, Jean-Claude / Thanaraj, Thangavel A / Timpson, Nicholas J / Tönjes, Anke / Tremblay, Angelo / Tuomi, Tiinamaija / Tuomilehto, Jaakko / Tusié-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 / Völker, Uwe / Vollenweider, Peter / Völzke, 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, Tõnu / 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

    Nature

    2022  Volume 610, Issue 7933, Page(s) 704–712

    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 ... ...

    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 sizes
    MeSH term(s) Humans ; Body Height/genetics ; Gene Frequency/genetics ; Genome, Human/genetics ; Genome-Wide Association Study ; Haplotypes/genetics ; Linkage Disequilibrium/genetics ; Polymorphism, Single Nucleotide/genetics ; Europe/ethnology ; Sample Size ; Phenotype ; Chromosome Mapping
    Language English
    Publishing date 2022-10-12
    Publishing country England
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 120714-3
    ISSN 1476-4687 ; 0028-0836
    ISSN (online) 1476-4687
    ISSN 0028-0836
    DOI 10.1038/s41586-022-05275-y
    Database MEDical Literature Analysis and Retrieval System OnLINE

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