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Background  The melanocortin 1 receptor gene ( MC1R ) is responsible for normal pigment variation in humans and is highly polymorphic with numerous population-specific alleles. Some  MC1R  variants have been associated with skin cancer risk.    Results  Allele frequency data were compiled on 55 single nucleotide polymorphisms from seven geographically distinct human populations (n = 2306 individuals).  MC1R  nucleotide diversity, π, was much higher (10.1 × 10 -4 ) than in other genes for all subjects. A large degree of population differentiation, determined by F ST , was also present, particularly between Asia and all other populations, due to the p.R163Q (c.488 G>A) polymorphism. The least amount of differentiation was between the United States, Northern Europe, and Southern Europe. Tajima's D statistic suggested the presence of positive selection in individuals from Europe.    Conclusion  This study further quantifies the degree of population-specific genetic variation and suggests that positive selection may be present in European populations in  MC1R .

Nucleotide diversity and population differentiation of the Melanocortin 1 Receptor gene, MC1R