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dc.contributor.authorLango Allen H
dc.contributor.authorEstrada K
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dc.contributor.authorBarroso I
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dc.contributor.authorMohlke KL
dc.contributor.authorBoomsma DI
dc.contributor.authorCaulfield MJ
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dc.contributor.authorErdmann J
dc.contributor.authorFox CS
dc.contributor.authorGudnason V
dc.contributor.authorGyllensten U
dc.contributor.authorHarris TB
dc.contributor.authorHayes RB
dc.contributor.authorJarvelin MR
dc.contributor.authorMooser V
dc.contributor.authorMunroe PB
dc.contributor.authorOuwehand WH
dc.contributor.authorPenninx BW
dc.contributor.authorPramstaller PP
dc.contributor.authorQuertermous T
dc.contributor.authorRudan I
dc.contributor.authorSamani NJ
dc.contributor.authorSpector TD
dc.contributor.authorVölzke H
dc.contributor.authorWatkins H
dc.contributor.authorWilson JF
dc.contributor.authorGroop LC
dc.contributor.authorHaritunians T
dc.contributor.authorHu FB
dc.contributor.authorKaplan RC
dc.contributor.authorMetspalu A
dc.contributor.authorNorth KE
dc.contributor.authorSchlessinger D
dc.contributor.authorWareham NJ
dc.contributor.authorHunter DJ
dc.contributor.authorO'Connell JR
dc.contributor.authorStrachan DP
dc.contributor.authorWichmann HE
dc.contributor.authorBorecki IB
dc.contributor.authorvan Duijn CM
dc.contributor.authorSchadt EE
dc.contributor.authorThorsteinsdottir U
dc.contributor.authorPeltonen L
dc.contributor.authorUitterlinden AG
dc.contributor.authorVisscher PM
dc.contributor.authorChatterjee N
dc.contributor.authorLoos RJ
dc.contributor.authorBoehnke M
dc.contributor.authorMcCarthy MI
dc.contributor.authorIngelsson E
dc.contributor.authorLindgren CM
dc.contributor.authorAbecasis GR
dc.contributor.authorStefansson K
dc.contributor.authorFrayling TM
dc.contributor.authorHirschhorn JN
dc.date.accessioned2018-10-05T13:55:18Z
dc.date.available2018-10-05T13:55:18Z
dc.date.issued2010
dc.identifier.issn0028-0836
dc.identifier.urihttp://dx.doi.org/10.1038/nature09410
dc.identifier.urihttp://hdl.handle.net/10863/6345
dc.description.abstractMost 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.en_US
dc.language.isoenen_US
dc.rights
dc.titleHundreds of variants clustered in genomic loci and biological pathways affect human heighten_US
dc.typeArticleen_US
dc.date.updated2018-10-05T13:53:01Z
dc.language.isiEN-GB
dc.journal.titleNature
dc.description.fulltextnoneen_US


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