Hundreds of variants clustered in genomic loci and biological pathways affect human height.

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Lango Allen, Hana (author)

Hundreds of variants clustered in genomic loci and biological pathways affect human height.

Article/chapterEnglish2010

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2010-09-29
Springer Science and Business Media LLC,2010

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LIBRIS-ID:oai:gup.ub.gu.se/133204
https://gup.ub.gu.se/publication/133204URI
https://doi.org/10.1038/nature09410DOI
https://lup.lub.lu.se/record/1725739URI
http://kipublications.ki.se/Default.aspx?queryparsed=id:121444497URI
https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-133899URI

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Language:English

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Subject category:art swepub-publicationtype

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Group Author(s): Procardis Consortium
Most common human traits and diseases have a polygenic pattern of inheritance: DNA sequence variants at many genetic loci influence the phenotype. Genome-wide association (GWA) studies have identified more than 600 variants associated with human traits, but these typically explain small fractions of phenotypic variation, raising questions about the use of further studies. Here, using 183,727 individuals, we show that hundreds of genetic variants, in at least 180 loci, influence adult height, a highly heritable and classic polygenic trait. The large number of loci reveals patterns with important implications for genetic studies of common human diseases and traits. First, the 180 loci are not random, but instead are enriched for genes that are connected in biological pathways (P = 0.016) and that underlie skeletal growth defects (P<0.001). Second, the likely causal gene is often located near the most strongly associated variant: in 13 of 21 loci containing a known skeletal growth gene, that gene was closest to the associated variant. Third, at least 19 loci have multiple independently associated variants, suggesting that allelic heterogeneity is a frequent feature of polygenic traits, that comprehensive explorations of already-discovered loci should discover additional variants and that an appreciable fraction of associated loci may have been identified. Fourth, associated variants are enriched for likely functional effects on genes, being over-represented among variants that alter amino-acid structure of proteins and expression levels of nearby genes. Our data explain approximately 10% of the phenotypic variation in height, and we estimate that unidentified common variants of similar effect sizes would increase this figure to approximately 16% of phenotypic variation (approximately 20% of heritable variation). Although additional approaches are needed to dissect the genetic architecture of polygenic human traits fully, our findings indicate that GWA studies can identify large numbers of loci that implicate biologically relevant genes and pathways.

Subject headings and genre

MEDICIN OCH HÄLSOVETENSKAP Medicinska och farmaceutiska grundvetenskaper Medicinsk genetik hsv//swe
MEDICAL AND HEALTH SCIENCES Basic Medicine Medical Genetics hsv//eng
MEDICIN OCH HÄLSOVETENSKAP Klinisk medicin Endokrinologi och diabetes hsv//swe
MEDICAL AND HEALTH SCIENCES Clinical Medicine Endocrinology and Diabetes hsv//eng
Body Height
genetics
Chromosomes
Human
Pair 3
genetics
Genetic Loci
genetics
Genetic Predisposition to Disease
genetics
Genome
Human
genetics
Genome-Wide Association Study
Humans
Metabolic Networks and Pathways
genetics
Multifactorial Inheritance
genetics
Phenotype
Polymorphism
Single Nucleotide
genetics
MEDICINE
NATURAL SCIENCES

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Estrada, Karol (author)
Lettre, Guillaume (author)
Berndt, Sonja I (author)
Weedon, Michael N (author)
Rivadeneira, Fernando (author)
Willer, Cristen J (author)
Jackson, Anne U (author)
Vedantam, Sailaja (author)
Raychaudhuri, Soumya (author)
Ferreira, Teresa (author)
Wood, Andrew R (author)
Weyant, Robert J (author)
Segrè, Ayellet V (author)
Speliotes, Elizabeth K (author)
Wheeler, Eleanor (author)
Soranzo, Nicole (author)
Park, Ju-Hyun (author)
Yang, Jian (author)
Gudbjartsson, Daniel (author)
Heard-Costa, Nancy L (author)
Randall, Joshua C (author)
Qi, Lu (author)
Vernon Smith, Albert (author)
Mägi, Reedik (author)
Pastinen, Tomi (author)
Liang, Liming (author)
Heid, Iris M (author)
Luan, Jian'an (author)
Thorleifsson, Gudmar (author)
Winkler, Thomas W (author)
Goddard, Michael E (author)
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Palmer, Cameron (author)
Workalemahu, Tsegaselassie (author)
Aulchenko, Yurii S (author)
Johansson, ÅsaUppsala universitet,Institutionen för genetik och patologi(Swepub:uu)asjoh108 (author)
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Tyrer, Jonathan P (author)
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Dixon, Anna L (author)
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Kettunen, Johannes (author)
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Kwan, Tony (author)
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Levinson, Douglas F (author)
Lorentzon, Mattias,1970Gothenburg University,Göteborgs universitet,Institutionen för medicin, avdelningen för invärtesmedicin,Institute of Medicine, Department of Internal Medicine(Swepub:gu)xlomat (author)
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Morris, Andrew P (author)
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Sovio, Ulla (author)
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Vandenput, Liesbeth,1974Gothenburg University,Göteborgs universitet,Institutionen för medicin, avdelningen för invärtesmedicin,Institute of Medicine, Department of Internal Medicine(Swepub:gu)xvanli (author)
Verlaan, Dominique J (author)
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Balmforth, Anthony J (author)
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Elosua, Roberto (author)
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Geus, Eco J C (author)
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McArdle, Wendy L (author)
Nelis, Mari (author)
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Beckmann, Jacques S (author)
Beilby, John P (author)
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Bergmann, Sven (author)
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Gejman, Pablo V (author)
Hall, Alistair S (author)
Hamsten, AndersKarolinska Institutet (author)
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Ohlsson, Claes,1965Gothenburg University,Göteborgs universitet,Centre for Bone and Arthritis Research,Institutionen för medicin, avdelningen för invärtesmedicin,Institute of Medicine, Department of Internal Medicine(Swepub:gu)xohlcl (author)
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Uppsala universitetInstitutionen för genetik och patologi (creator_code:org_t)

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By the author/editor: Lango Allen, Han ...; Estrada, Karol; Lettre, Guillaum ...; Berndt, Sonja I; Weedon, Michael ...; Rivadeneira, Fer ...; show more...; Willer, Cristen ...; Jackson, Anne U; Vedantam, Sailaj ...; Raychaudhuri, So ...; Ferreira, Teresa; Wood, Andrew R; Weyant, Robert J; Segrè, Ayellet V; Speliotes, Eliza ...; Wheeler, Eleanor; Soranzo, Nicole; Park, Ju-Hyun; Yang, Jian; Gudbjartsson, Da ...; Heard-Costa, Nan ...; Randall, Joshua ...; Qi, Lu; Vernon Smith, Al ...; Mägi, Reedik; Pastinen, Tomi; Liang, Liming; Heid, Iris M; Luan, Jian'an; Thorleifsson, Gu ...; Winkler, Thomas ...; Goddard, Michael ...; Sin Lo, Ken; Palmer, Cameron; Workalemahu, Tse ...; Aulchenko, Yurii ...; Johansson, Åsa; Zillikens, M Car ...; Feitosa, Mary F; Esko, Tõnu; Johnson, Toby; Ketkar, Shamika; Kraft, Peter; Mangino, Massimo; Prokopenko, Inga; Absher, Devin; Albrecht, Eva; Ernst, Florian; Glazer, Nicole L; Hayward, Carolin ...; Hottenga, Jouke- ...; Jacobs, Kevin B; Knowles, Joshua ...; Kutalik, Zoltan; Monda, Keri L; Polasek, Ozren; Preuss, Michael; Rayner, Nigel W; Robertson, Neil ...; Steinthorsdottir ...; Tyrer, Jonathan ...; Voight, Benjamin ...; Wiklund, Fredrik; Xu, Jianfeng; Hua Zhao, Jing; Nyholt, Dale R; Pellikka, Niina; Perola, Markus; Perry, John R B; Surakka, Ida; Tammesoo, Mari-L ...; Altmaier, Elizab ...; Amin, Najaf; Aspelund, Thor; Bhangale, Tushar; Boucher, Gabriel ...; Chasman, Daniel ...; Chen, Constance; Coin, Lachlan; Cooper, Matthew ...; Dixon, Anna L; Gibson, Quince; Grundberg, Elin; Hao, Ke; Juhani Junttila, ...; Kaplan, Lee M; Kettunen, Johann ...; König, Inke R; Kwan, Tony; Lawrence, Robert ...; Levinson, Dougla ...; Lorentzon, Matti ...; McKnight, Barbar ...; Morris, Andrew P; Muller, Martina; Suh Ngwa, Julius; Purcell, Shaun; Rafelt, Suzanne; Salem, Rany M; Salvi, Erika; Sanna, Serena; Shi, Jianxin; Sovio, Ulla; Thompson, John R; Turchin, Michael ...; Vandenput, Liesb ...; Verlaan, Dominiq ...; Vitart, Veroniqu ...; White, Charles C; Ziegler, Andreas; Almgren, Peter; Balmforth, Antho ...; Campbell, Harry; Citterio, Lorena; De Grandi, Aless ...; Dominiczak, Anna; Duan, Jubao; Elliott, Paul; Elosua, Roberto; Eriksson, Johan ...; Freimer, Nelson ...; Geus, Eco J C; Glorioso, Nicola; Haiqing, Shen; Hartikainen, Ann ...; Havulinna, Aki S; Hicks, Andrew A; Hui, Jennie; Igl, Wilmar; Illig, Thomas; Jula, Antti; Kajantie, Eero; Kilpeläinen, Tuo ...; Koiranen, Markku; Kolcic, Ivana; Koskinen, Seppo; Kovacs, Peter; Laitinen, Jaana; Liu, Jianjun; Lokki, Marja-Lii ...; Marusic, Ana; Maschio, Andrea; Meitinger, Thoma ...; Mulas, Antonella; Paré, Guillaume; Parker, Alex N; Peden, John F; Petersmann, Astr ...; Pichler, Irene; Pietiläinen, Kir ...; Pouta, Anneli; Ridderstråle, Ma ...; Rotter, Jerome I; Sambrook, Jennif ...; Sanders, Alan R; Oliver Schmidt, ...; Sinisalo, Juha; Smit, Jan H; Stringham, Heath ...; Bragi Walters, G; Widen, Elisabeth; Wild, Sarah H; Willemsen, Gonne ...; Zagato, Laura; Zgaga, Lina; Zitting, Paavo; Alavere, Helene; Farrall, Martin; McArdle, Wendy L; Nelis, Mari; Peters, Marjolei ...; Ripatti, Samuli; van Meurs, Joyce ...; Aben, Katja K; Ardlie, Kristin ...; Beckmann, Jacque ...; Beilby, John P; Bergman, Richard ...; Bergmann, Sven; Collins, Francis ...; Cusi, Daniele; den Heijer, Mart ...; Eiriksdottir, Gu ...; Gejman, Pablo V; Hall, Alistair S; Hamsten, Anders; Huikuri, Heikki ...; Iribarren, Carlo ...; Kähönen, Mika; Kaprio, Jaakko; Kathiresan, Seka ...; Kiemeney, Lamber ...; Kocher, Thomas; Launer, Lenore J; Lehtimäki, Terho; Melander, Olle; Mosley, Tom H; Musk, Arthur W; Nieminen, Markku ...; O'Donnell, Chris ...; Ohlsson, Claes, ...; Oostra, Ben; Palmer, Lyle J; Raitakari, Olli; Ridker, Paul M; Rioux, John D; Rissanen, Aila; Rivolta, Carlo; Schunkert, Herib ...; Shuldiner, Alan ...; Siscovick, David ...; Stumvoll, Michae ...; Tönjes, Anke; Tuomilehto, Jaak ...; van Ommen, Gert- ...; Viikari, Jorma; Heath, Andrew C; Martin, Nicholas ...; Montgomery, Gran ...; Province, Michae ...; Kayser, Manfred; Arnold, Alice M; Atwood, Larry D; Boerwinkle, Eric; Chanock, Stephen ...; Deloukas, Panos; Gieger, Christia ...; Grönberg, Henrik; Hall, Per; Hattersley, Andr ...; Hengstenberg, Ch ...; Hoffman, Wolfgan ...; Mark Lathrop, G; Salomaa, Veikko; Schreiber, Stefa ...; Uda, Manuela; Waterworth, Dawn; Wright, Alan F; Assimes, Themist ...; Barroso, Ines; Hofman, Albert; Mohlke, Karen L; Boomsma, Dorret ...; Caulfield, Mark ...; Adrienne Cupples ...; Erdmann, Jeanett ...; Fox, Caroline S; Gudnason, Vilmun ...; Gyllensten, Ulf; Harris, Tamara B; Hayes, Richard B; Jarvelin, Marjo- ...; Mooser, Vincent; Munroe, Patricia ...; Ouwehand, Willem ...; Penninx, Brenda ...; Pramstaller, Pet ...; Quertermous, Tho ...; Rudan, Igor; Samani, Nilesh J; Spector, Timothy ...; Völzke, Henry; Watkins, Hugh; Wilson, James F; Groop, Leif; Haritunians, Tal ...; Hu, Frank B; Kaplan, Robert C; Metspalu, Andres; North, Kari E; Schlessinger, Da ...; Wareham, Nichola ...; Hunter, David J; O'Connell, Jeffr ...; Strachan, David ...; Wichmann, H-Eric ...; Borecki, Ingrid ...; van Duijn, Corne ...; Schadt, Eric E; Thorsteinsdottir ...; Peltonen, Leena; Uitterlinden, An ...; Visscher, Peter ...; Chatterjee, Nila ...; Loos, Ruth J F; Boehnke, Michael; McCarthy, Mark I; Ingelsson, Erik; Lindgren, Cecili ...; Abecasis, Gonçal ...; Stefansson, Kari; Frayling, Timoth ...; Hirschhorn, Joel ...; show less...

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