Open Access Highly Accessed Research article

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

Sharon A Savage1*, Meg R Gerstenblith2, Alisa M Goldstein2, Lisa Mirabello1, Maria Concetta Fargnoli3, Ketty Peris3 and Maria Teresa Landi2

Author Affiliations

1 Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, USA

2 Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, USA

3 Department of Dermatology, University of L'Aquila, Via Vetoio – Coppito 2, 67100 L'Aquila, Italy

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BMC Genetics 2008, 9:31  doi:10.1186/1471-2156-9-31

Published: 10 April 2008

Abstract

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 FST, 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.