uu.seUppsala University Publications
Change search
ReferencesLink to record
Permanent link

Direct link
Defining the role of common variation in the genomic and biological architecture of adult human height
Show others and affiliations
2014 (English)In: Nature Genetics, ISSN 1061-4036, E-ISSN 1546-1718, Vol. 46, no 11, 1173-1186 p.Article in journal (Refereed) Published
Abstract [en]

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 connected with human skeletal growth, including mTOR, osteoglycin and binding of hyaluronic acid. Our results indicate a genetic architecture for human height that is characterized by a very large but finite number (thousands) of causal variants.

Place, publisher, year, edition, pages
2014. Vol. 46, no 11, 1173-1186 p.
National Category
Medical Genetics
URN: urn:nbn:se:uu:diva-233669DOI: 10.1038/ng.3097ISI: 000344131900008PubMedID: 25282103OAI: oai:DiVA.org:uu-233669DiVA: diva2:753431
Available from: 2014-10-07 Created: 2014-10-07 Last updated: 2016-01-26Bibliographically approved

Open Access in DiVA

No full text

Other links

Publisher's full textPubMed

Search in DiVA

By author/editor
Gustafsson, StefanFall, ToveArnlöv, JohanBerne, ChristianGiedraitis, VilmantasJohansson, ÅsaLind, LarsSundström, JohanSyvänen, Ann-ChristineGyllensten, UlfIngelsson, Erik
By organisation
Molecular epidemiologyScience for Life Laboratory, SciLifeLabClinical diabetology and metabolismGeriatricsGenomicsCardiovascular epidemiologyCardiology
In the same journal
Nature Genetics
Medical Genetics

Search outside of DiVA

GoogleGoogle Scholar
The number of downloads is the sum of all downloads of full texts. It may include eg previous versions that are now no longer available

Altmetric score

Total: 328 hits
ReferencesLink to record
Permanent link

Direct link