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 journalJournal articleResearchpeer-review

Harvard

Diabetes Genetics Initiative 2008, 'Genome-wide association analysis identifies 20 loci that influence adult height', Nature Genetics, vol. 40, no. 5, pp. 575-83. https://doi.org/10.1038/ng.121

APA

Diabetes Genetics Initiative (2008). Genome-wide association analysis identifies 20 loci that influence adult height. Nature Genetics, 40(5), 575-83. https://doi.org/10.1038/ng.121

Vancouver

Diabetes Genetics Initiative. Genome-wide association analysis identifies 20 loci that influence adult height. Nature Genetics. 2008 May;40(5):575-83. https://doi.org/10.1038/ng.121

Author

Diabetes Genetics Initiative. / Genome-wide association analysis identifies 20 loci that influence adult height. In: Nature Genetics. 2008 ; Vol. 40, No. 5. pp. 575-83.

Bibtex

@article{870b474ff50a4d01b8af148b292651ce,
title = "Genome-wide association analysis identifies 20 loci that influence adult height",
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.",
keywords = "Adult, Aged, Body Height/genetics, Extracellular Matrix Proteins/genetics, Female, Genome, Human, Genotype, Hedgehog Proteins/genetics, Humans, Male, Middle Aged, Neoplasm Proteins/genetics, Polymorphism, Single Nucleotide",
author = "Weedon, {Michael N} and Hana Lango and Lindgren, {Cecilia M} and Chris Wallace and Evans, {David M} and Massimo Mangino and Freathy, {Rachel M} and Perry, {John R B} and Suzanne Stevens and Hall, {Alistair S} and Samani, {Nilesh J} and Beverly Shields and Inga Prokopenko and Martin Farrall and Anna Dominiczak and Toby Johnson and Sven Bergmann and Beckmann, {Jacques S} and Peter Vollenweider and Waterworth, {Dawn M} and Vincent Mooser and Palmer, {Colin N A} and Morris, {Andrew D} and Ouwehand, {Willem H} and Zhao, {Jing Hua} and Shengxu Li and Loos, {Ruth J F} and In{\^e}s Barroso and Panagiotis Deloukas and Sandhu, {Manjinder S} and Eleanor Wheeler and Nicole Soranzo and Michael Inouye and Wareham, {Nicholas J} and Mark Caulfield and Munroe, {Patricia B} and Hattersley, {Andrew T} and McCarthy, {Mark I} and Frayling, {Timothy M} and {Diabetes Genetics Initiative}",
year = "2008",
month = may,
doi = "10.1038/ng.121",
language = "English",
volume = "40",
pages = "575--83",
journal = "Nature Genetics",
issn = "1061-4036",
publisher = "nature publishing group",
number = "5",

}

RIS

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