|Generally European; Light skin; Possibly an increased risk of melanoma|
||generally non-European, but if European, 7x more likely to have black hair
||if European, 7x more likely to have black hair
||Generally European; Light skin; Possibly an increased risk of melanoma
This SNP is associated with skin, hair, and eye colour, and risk of melanoma. Individuals with the G;G genotype are generally of European descent and have fair skin.
[PMID 19710684] In a population-based case-control study investigating a number of pigmentation-related SNPs and their correlation with cutaneous malignant melanoma (CMM) in a Caucasian Australian population, rs16891982 (variant F374L) was found to be associated with odds ratios of 3.44, 2.86, 1.68, and 1.68 for all study subjects (1,738 CMM cases and 4,517 controls); subjects with northern European ancestry (1,438 cases and 3,098 controls); northern European subjects adjusted for hair, eye, and skin colour; and northern European subjects adjusted for the MC1R genotype, respectively (p<0.001 for all).