Genome-wide association analysis identifies 20 loci that influence adult height
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Genome-wide association analysis identifies 20 loci that influence adult height. / Diabetes Genetics Initiative.
In: Nature Genetics, Vol. 40, No. 5, 05.2008, p. 575-83.Research output: Contribution to journal › Journal article › Research › peer-review
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TY - JOUR
T1 - Genome-wide association analysis identifies 20 loci that influence adult height
AU - Weedon, Michael N
AU - Lango, Hana
AU - Lindgren, Cecilia M
AU - Wallace, Chris
AU - Evans, David M
AU - Mangino, Massimo
AU - Freathy, Rachel M
AU - Perry, John R B
AU - Stevens, Suzanne
AU - Hall, Alistair S
AU - Samani, Nilesh J
AU - Shields, Beverly
AU - Prokopenko, Inga
AU - Farrall, Martin
AU - Dominiczak, Anna
AU - Johnson, Toby
AU - Bergmann, Sven
AU - Beckmann, Jacques S
AU - Vollenweider, Peter
AU - Waterworth, Dawn M
AU - Mooser, Vincent
AU - Palmer, Colin N A
AU - Morris, Andrew D
AU - Ouwehand, Willem H
AU - Zhao, Jing Hua
AU - Li, Shengxu
AU - Loos, Ruth J F
AU - Barroso, Inês
AU - Deloukas, Panagiotis
AU - Sandhu, Manjinder S
AU - Wheeler, Eleanor
AU - Soranzo, Nicole
AU - Inouye, Michael
AU - Wareham, Nicholas J
AU - Caulfield, Mark
AU - Munroe, Patricia B
AU - Hattersley, Andrew T
AU - McCarthy, Mark I
AU - Frayling, Timothy M
AU - Diabetes Genetics Initiative
PY - 2008/5
Y1 - 2008/5
N2 - 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.
AB - 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.
KW - Adult
KW - Aged
KW - Body Height/genetics
KW - Extracellular Matrix Proteins/genetics
KW - Female
KW - Genome, Human
KW - Genotype
KW - Hedgehog Proteins/genetics
KW - Humans
KW - Male
KW - Middle Aged
KW - Neoplasm Proteins/genetics
KW - Polymorphism, Single Nucleotide
U2 - 10.1038/ng.121
DO - 10.1038/ng.121
M3 - Journal article
C2 - 18391952
VL - 40
SP - 575
EP - 583
JO - Nature Genetics
JF - Nature Genetics
SN - 1061-4036
IS - 5
ER -
ID: 258452277