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 iota x 10(-10)). Combined, the 20 SNPs explain similar to 3% of height variation, with a similar to 5 cm difference between the 6.2% of people with iota 7 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.
Original language | English |
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Pages (from-to) | 575-583 |
Number of pages | 9 |
Journal | Nature Genetics |
Volume | 40 |
Issue number | 5 |
DOIs | |
Publication status | Published - May 2008 |
Keywords
- GENETIC ASSOCIATION
- BODY HEIGHT
- SUSCEPTIBILITY
- POPULATION
- STRATIFICATION
- OSTEOARTHRITIS
- HERITABILITY
- EXPRESSION
- STATURE
- COHORTS