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Title: Genome-wide association analysis identifies 20 loci that influence adult height.
Authors: Weedon, MN
Lango, H
Lindgren, CM
Wallace, C
Evans, DM
Mangino, M
Freathy, RM
Perry, JR
Stevens, S
Hall, AS
Samani, NJ
Shields, B
Prokopenko, I
Farrall, M
Dominiczak, A
Diabetes Genetics Initiative
Wellcome Trust Case Control Consortium
Johnson, T
Bergmann, S
Beckmann, JS
Vollenweider, P
Waterworth, DM
Mooser, V
Palmer, CN
Morris, AD
Ouwehand, WH
Cambridge GEM Consortium
Zhao, JH
Li, S
Loos, RJ
Barroso, I
Deloukas, P
Sandhu, MS
Wheeler, E
Soranzo, N
Inouye, M
Wareham, NJ
Caulfield, M
Munroe, PB
Hattersley, AT
McCarthy, MI
Frayling, TM
First Published: May-2008
Citation: NAT GENET, 2008, 40 (5), pp. 575-583
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 x 10(-7), with 10 reaching P < 1 x 10(-10)). Combined, the 20 SNPs explain approximately 3% of height variation, with a approximately 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.
DOI Link: 10.1038/ng.121
eISSN: 1546-1718
Type: Journal Article
Appears in Collections:Published Articles, Dept. of Cardiovascular Sciences

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