A Genomewide Association Study of Skin Pigmentation in a South Asian Population
| Autor: | P. V. Krishna Pant, Wendy Filsell, Martin R. Green, Carl Jarman, Amelia Fereday, Rebecca S. Ginger, Tony Dadd, David Cox, Renee Stokowski, David A. Hinds, Frans van der Ouderaa |
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| Rok vydání: | 2007 |
| Předmět: |
SLC45A2
Population India Skin Pigmentation SLC24A5 Genome Polymorphism Single Nucleotide Antiporters Article Gene Frequency Antigens Neoplasm Skin Physiological Phenomena Genetics Humans Pakistan Genetics(clinical) education Allele frequency Genetics (clinical) Sri Lanka Melanins education.field_of_study Bangladesh biology integumentary system Genome Human Membrane Transport Proteins Phenotype biology.protein Human genome DNA phenotyping |
| Zdroj: | The American Journal of Human Genetics. 81(6):1119-1132 |
| ISSN: | 0002-9297 |
| DOI: | 10.1086/522235 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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