A genomewide association study of skin pigmentation in a South Asian population.
other · Level V
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- Record sourced from PubMed, PMID 17999355.
- Also identified by PMC identifier 2276347.
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Abstract
We have conducted a multistage genomewide association study, using 1,620,742 single-nucleotide polymorphisms to systematically investigate the genetic factors influencing intrinsic skin pigmentation in a population of South Asian descent. Polymorphisms in three genes--SLC24A5, TYR, and SLC45A2--yielded highly significant replicated associations with skin-reflectance measurements, an indirect measure of melanin content in the skin. The associations detected in these three genes, in an additive manner, collectively account for a large fraction of the natural variation of skin pigmentation in a South Asian population. Our study is the first to interrogate polymorphisms across the genome, to find genetic determinants of the natural variation of skin pigmentation within a human population.
Medical subject headings
- Antigens, Neoplasm
- Antiporters
- Genome, Human
- Melanins
- Membrane Transport Proteins
- Polymorphism, Single Nucleotide
- Skin Physiological Phenomena
- Skin Pigmentation