A genomewide association study of skin pigmentation in a South Asian population.
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.
Stokowski
Renee P
RP
Perlegen Sciences, Mountain View, CA 94043, USA. renee_stokowski@perlegen.com
Pant
P V Krishna
PV
Dadd
Tony
T
Fereday
Amelia
A
Hinds
David A
DA
Jarman
Carl
C
Filsell
Wendy
W
Ginger
Rebecca S
RS
Green
Martin R
MR
van der Ouderaa
Frans J
FJ
Cox
David R
DR
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
D000951:Antigens, Neoplasm; D017920:Antiporters; D008543:Melanins; D026901:Membrane Transport Proteins; C506584:SLC24A5 protein, human; C510061:SLC45A2 protein, human