In a discovery sample of 2,986 Icelanders and replication samples of 2,718 Icelanders and 1,214 Dutch, Sulem et al. (2007) cited studies suggesting that the genetic factors influencing lighter pigmentation in Europeans may be far different from the mechanism for lighter pigmentation in East Asians ( Relethford, 1997 Norton et al., 2006 Myles et al., 2007). SLC24A5 contained the primary associated SNP.
#Type 3 skin skin
The association detected in these 3 genes, in an additive manner, collectively accounted for a large fraction of the natural variation of skin pigmentation in the South Asian population. (2007) also found that polymorphism in the SLC24A5 (A111T 609802.0001) and SLC45A2 (元74F 606202.0008) genes yielded highly significant replicated associations with skin-reflectance measurements, which is an indirect measure of melanin content in the skin.
The odds ratio, calculated for allele 1 (C), represented the ratio of the likelihood of an individual being in the low-reflectance group (darker skin) to the likelihood of being in the high-reflectance group (lighter skin). The association was replicated in a second independent cohort of 235 individuals. They found association of the TYR SNP rs1042602 (S192Y 606933.0008) with skin pigmentation in a cohort of 395 individuals (OR = 4.36, P = 4.48 x 10(-10)). The melanin contribution to skin pigmentation was measured by reflectance spectrophotometry. (2007) conducted a multistage genomewide association study using 1,620,742 SNPs to systematically investigate the genetic factors influencing intrinsic skin pigmentation in a population of South Asian descent.
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