DESCRIPTION:

List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was Height. The EFO term body height was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1.

LABEL:

GWAS: body height

SCORE TYPE:

P-Value

DATE ADDED:

2017-05-02

DATE UPDATED:

2024-04-25

SPECIES:

AUTHORS:

MN Weedon, H Lango, CM Lindgren, C Wallace, DM Evans, M Mangino, RM Freathy, JR Perry, S Stevens, AS Hall, NJ Samani, B Shields, I Prokopenko, M Farrall, A Dominiczak, T Johnson, S Bergmann, JS Beckmann, P Vollenweider, DM Waterworth, V Mooser, CN Palmer, AD Morris, WH Ouwehand, JH Zhao, S Li, RJ Loos, I Barroso, P Deloukas, MS Sandhu, E Wheeler, N Soranzo, M Inouye, NJ Wareham, M Caulfield, PB Munroe, AT Hattersley, MI McCarthy, TM Frayling

TITLE:

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

JOURNAL:

Nature genetics May 2008, Vol 40, pp. 575-83

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. PUBMED: 18391952
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