title: A genomewide association study of skin pigmentation in a South Asian population.
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.
authors.affiliation: Perlegen Sciences, Mountain View, CA 94043, USA. renee_stokowski@perlegen.com
authors.forename: Renee P
authors.initials: RP
authors.lastname: Stokowski
authors.forename: P V Krishna
authors.initials: PV
authors.lastname: Pant
authors.forename: Tony
authors.initials: T
authors.lastname: Dadd
authors.forename: Amelia
authors.initials: A
authors.lastname: Fereday
authors.forename: David A
authors.initials: DA
authors.lastname: Hinds
authors.forename: Carl
authors.initials: C
authors.lastname: Jarman
authors.forename: Wendy
authors.initials: W
authors.lastname: Filsell
authors.forename: Rebecca S
authors.initials: RS
authors.lastname: Ginger
authors.forename: Martin R
authors.initials: MR
authors.lastname: Green
authors.forename: Frans J
authors.initials: FJ
authors.lastname: van der Ouderaa
authors.forename: David R
authors.initials: DR
authors.lastname: Cox
mesh_terms: D000951:Antigens, Neoplasm / Q000235:genetics*; D017920:Antiporters / Q000235:genetics*; D001459:Bangladesh; D005787:Gene Frequency; D015894:Genome, Human; D006801:Humans; D007194:India; D008543:Melanins / Q000032:analysis*; D026901:Membrane Transport Proteins / Q000235:genetics*; D010154:Pakistan; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D012879:Skin Physiological Phenomena; D012880:Skin Pigmentation / Q000235:genetics*; D013188:Sri Lanka
chemical_list: D000951:Antigens, Neoplasm; D017920:Antiporters; D008543:Melanins; D026901:Membrane Transport Proteins; C506584:SLC24A5 protein, human; C510061:SLC45A2 protein, human