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Distribution of two OCA2 polymorphisms associated with pigmentation in East-Asian populations

Two OCA2 polymorphisms (rs1800414 and rs74653330) have been associated with pigmentation in East Asians. We explored the distribution of these markers in a panel of samples from populations around the world. The derived allele of rs1800414 has high frequencies in a broad East-Asian region, whereas t...

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Detalles Bibliográficos
Autores principales: Murray, Nicole, Norton, Heather L, Parra, Esteban J
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785538/
https://www.ncbi.nlm.nih.gov/pubmed/27081560
http://dx.doi.org/10.1038/hgv.2015.58
Descripción
Sumario:Two OCA2 polymorphisms (rs1800414 and rs74653330) have been associated with pigmentation in East Asians. We explored the distribution of these markers in a panel of samples from populations around the world. The derived allele of rs1800414 has high frequencies in a broad East-Asian region, whereas the derived allele of rs74653330 is primarily restricted to northern East Asia. Our data suggest that these polymorphisms may have been selected independently in different regions of East Asia.