biostudies-literatureWood ARBritish Heart FoundationNCATS NIH HHSNICHD NIH HHSNHLBI NIH HHSEuropean Research CouncilNIDDK NIH HHSMedical Research CouncilNational Institute for Health Research (NIHR)NHGRI NIH HHSChief Scientist OfficeNCI NIH HHSWellcome TrustNovo Nordisk FondenNIGMS NIH HHS1173-86https://www.ebi.ac.uk/biostudies/studies/S-EPMC4250049biostudies-literatureUnknown46(11)Using genome-wide data from 253,288 individuals, we identified 697 variants at genome-wide significance that together explained one-fifth of the heritability for adult height. By testing different numbers of variants in independent studies, we show that the most strongly associated ∼2,000, ∼3,700 and ∼9,500 SNPs explained ∼21%, ∼24% and ∼29% of phenotypic variance. Furthermore, all common variants together captured 60% of heritability. The 697 variants clustered in 423 loci were enriched for genes, pathways and tissue types known to be involved in growth and together implicated genes and pathways not highlighted in earlier efforts, such as signaling by fibroblast growth factors, WNT/β-catenin and chondroitin sulfate-related genes. We identified several genes and pathways not previously conNature geneticsDefining the role of common variation in the genomic and biological architecture of adult human height.PMC4250049U01 HG007419P30 GM103341323195MR/L01629X/1NNF13OC0005785090532P30 DK072488NF-SI-0513-10151NNF14OC0010513FS/14/12/30540PG/07/085/23349RG/09/012/28096098381G0601463R01 HL109946T32 HL007055NF-SI-0510-10214UL1 TR000124MC_UP_A100_1003R01 DK075787R01 GM075091G1002084085301FS/12/8/29377R01 HL087700FS/12/33/29561P30 HD018655R01 HL117078G0500070MR/K006584/1P30 DK063491R01 DK072193MC_PC_U127561128SP/08/002/24118NF-SI-0611-10219MC_CF023241RG/08/008/25291CZB/4/710098395CZB/4/672U01 DK062370R01 HL117626RG/10/12/28456NF-SI-0513-10059P30 CA071789R01 DK093757MC_UU_12015/1NF-SI-0611-10170MR/L003120/1NF-SI-0512-10165NNF12OC1016467T32 GM080178FS/11/35/28871U01 CA164930P30 CA015704P01 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JBalmforth AJHunt SCBeckmann JSTeumer AShi JHicks AALakka TAFost NMedina-Gomez CDenny JCFord ISchwarz PEWu JBraund PSJunttila JWright BJStefansson KClaudi-Boehm SLu YWu CMonda KLBoerwinkle EAbecasis GROhlsson CWang HHveem KVedantam SStumvoll MManolio TWood ARFerrucci LSpector TDBernardinelli LGustafsson SHallmans GKayser MGalli MStrawbridge RJWang ZOostra BAMatise TCXie CYang Jvan Dijk SPark LHemani GWright AFAnand SAlizadeh BKocher TFowke JFarrall MMooser VJohansen BHamsten AGansevoort RTKuller LKee FWolffenbuttel BHRader DJDorr MMorken MAMcLaren PJPankow Jde Boer RASteinthorsdottir VDing KHaines JLPower CMacCluer JBandinelli SIsaacs ASchlessinger DGolay ACaspersen IHForrester TGong JEpstein SELehtimaki TChakravarti AClayton EErbel RGoddard METhompson JRBaron JStrachan DPKao LQasim AHindorff LLangenberg CMagnusson PKElosua RCampbell HLichtner PShohet RPasko DHumphries SEMorgan TStirrups KWorkalemahu TLindstrom JDuan YfalseDefining the role of common variation in the genomic and biological architecture of adult human height.Using genome-wide data from 253,288 individuals, we identified 697 variants at genome-wide significance that together explained one-fifth of the heritability for adult height. By testing different numbers of variants in independent studies, we show that the most strongly associated ∼2,000, ∼3,700 and ∼9,500 SNPs explained ∼21%, ∼24% and ∼29% of phenotypic variance. Furthermore, all common variants together captured 60% of heritability. The 697 variants clustered in 423 loci were enriched for genes, pathways and tissue types known to be involved in growth and together implicated genes and pathways not highlighted in earlier efforts, such as signaling by fibroblast growth factors, WNT/β-catenin and chondroitin sulfate-related genes. We identified several genes and pathways not previously con2014-01-01T00:00:00Z2014 Nov2026-05-04T23:25:51.771Z2025-07-09T03:05:05.925ZS-EPMC42500492528210310.1038/ng.3097