Association of SNPs from the SLC45A2 gene with human pigmentation traits in Brazil

Abstract The SLC45A2 gene encodes the MATP, which mediates melanin synthesis by tyrosinase trafficking and/or proton transportation to melanosomes. The present study aimed to investigate the polymorphisms of the SLC45A2 gene and their alleles or genotypes associations with pigmentation traits in a highly admixed population sample. To achieve this goal, 12 SLC45A2 SNPs were evaluated in 288 unrelated individuals from the Ribeirao Preto area, Sao Paulo State, Brazil. Alleles from five SNPs were observed in association with fair pigmentation features (pale skin, green/blue eyes, and blond hair), while their counterpart alleles were associated with dark pigmentation. The present results emphasize the role played by SLC45A2 in the determination of human pigmentation.