| Autor: |
Peris Ketty, Fargnoli Maria, Mirabello Lisa, Goldstein Alisa M, Gerstenblith Meg R, Savage Sharon A, Landi Maria |
| Jazyk: |
angličtina |
| Rok vydání: |
2008 |
| Předmět: |
|
| Zdroj: |
BMC Genetics, Vol 9, Iss 1, p 31 (2008) |
| Druh dokumentu: |
article |
| ISSN: |
1471-2156 |
| DOI: |
10.1186/1471-2156-9-31 |
| Popis: |
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. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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