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Genome-wide association analysis identifies 20 loci that influence adult height.

Authors :
Weedon, Michael N.
Lango, Hana
Lindgren, Cecilia M.
Wallace, Chris
Evans, David M.
Mangino, Massimo
Freathy, Rachel M.
Perry, John R. B.
Stevens, Suzanne
Hall, Alistair S.
Samani, Nilesh J.
Shields, Beverly
Prokopenko, Inga
Farrall, Martin
Dominiczak, Anna
Johnson, Toby
Bergmann, Sven
Beckmann, Jacques S.
Vollenweider, Peter
Waterworth, Dawn M.
Source :
Nature Genetics; May2008, Vol. 40 Issue 5, p575-583, 9p, 2 Charts, 5 Graphs
Publication Year :
2008

Abstract

Adult height is a model polygenic trait, but there has been limited success in identifying the genes underlying its normal variation. To identify genetic variants influencing adult human height, we used genome-wide association data from 13,665 individuals and genotyped 39 variants in an additional 16,482 samples. We identified 20 variants associated with adult height (P < 5 × 10<superscript>−7</superscript>, with 10 reaching P < 1 × 10<superscript>−10</superscript>). Combined, the 20 SNPs explain ∼3% of height variation, with a ∼5 cm difference between the 6.2% of people with 17 or fewer 'tall' alleles compared to the 5.5% with 27 or more 'tall' alleles. The loci we identified implicate genes in Hedgehog signaling (IHH, HHIP, PTCH1), extracellular matrix (EFEMP1, ADAMTSL3, ACAN) and cancer (CDK6, HMGA2, DLEU7) pathways, and provide new insights into human growth and developmental processes. Finally, our results provide insights into the genetic architecture of a classic quantitative trait. [ABSTRACT FROM AUTHOR]

Details

Language :
English
ISSN :
10614036
Volume :
40
Issue :
5
Database :
Complementary Index
Journal :
Nature Genetics
Publication Type :
Academic Journal
Accession number :
31812228
Full Text :
https://doi.org/10.1038/ng.121