rs16891982

This snp influences skin pigmentation. The allele p.L374F indicates light-skinned european ancestry c.1122C>G, p.Phe374Leu (NCBI dbSNP rs16891982) in SLC45A2 was associated with protection from malignant melanoma (OR, 0.41; 95% CI, 0.24-0.70; P=0.008 after adjustment for multiple testing) An association study conducted on a population of European origin concluded that the rare (in Europeans, at least) allele L374, i.e. rs16891982(C) in dbSNP orientation, significantly increases the possibility of having black hair color, with an odds ratio of around 7. This population-based case-control study investigated a number of pigmentation-related SNPs and their correlation with cutaneous malignant melanoma (CMM) in an 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). A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation. Genome-wide association study of tanning phenotype in a population of European ancestry. Genetic variants in pigmentation genes, pigmentary phenotypes, and risk of skin cancer in Caucasians. Haplotypes in SLC24A5 Gene as Ancestry Informative Markers in Different Populations. Ancestry analysis in the 11-M Madrid bomb attack investigation. Genetic determinants of hair and eye colours in the Scottish and Danish populations. Digital quantification of human eye color highlights genetic association of three new loci. Spectrum of candidate gene mutations associated with Indian familial oculocutaneous and ocular albinism. Genetic analysis of the SNPforID 34-plex ancestry informative SNP panel in Tunisian and Libyan populations. Squamous Cell Carcinoma

G;G

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. 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).