Distribution of Two Asian-Related Coding SNPs in the MC1R and OCA2 Genes
Abstract
Very little is known about the genes and mechanisms affecting skin lightening in Asian populations. In this study, two coding SNPs, c.G1129A (R163Q) at the MC1R (melanocortin 1 receptor) gene and c.A1962G (H615R) at the OCA2 (oculocutaneous albinism type II) gene, were investigated in a total of 1,809 individuals in 16 populations from various areas. The Q163 and R615 alleles prevailed almost exclusively in East and Southeast Asian populations. Wright's F (ST) was 0.445 for R163Q and 0.385 for H615R among the 16 populations. The frequency of the Q163 allele was higher in Northeast Asians than in Southeast Asians. The frequency of the R615 allele was highest in South China and unlikely to be associated with levels of ultraviolet radiation. This allele may be a good marker to study the genetic affinity among East Asians because of its restricted distribution and marked difference in allele frequency.
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The derived allele at rs1800414 (His615Arg) in exon 19 of OCA2 has been reported to be specific to East Asia.
“The derived allele at a missense SNP (rs1800414, His615Arg) in exon 19 of OCA2 has been reported to be specific to East Asia (Yuasa et al. 2007; Anno et al. 2008).”
From A global view of the OCA2-HERC2 region and pigmentation (2012) · cites this paper as Yuasa et al. 2007
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- Authors
- Yuasa, I., Umetsu, K., Harihara, S., Kido, A., Miyoshi, A., Saitou, N., Dashnyam, B., Jin, F., Lucotte, G., Chattopadhyay, P. K., Henke, L., & Henke, J.
- Affiliations
- Tottori University (JP)
- Yamagata University (JP)
- The University of Tokyo (JP)
- University of Yamanashi (JP)
- Fukuoka University (JP)
- National Institute of Genetics (JP)
- Mongolian Academy of Sciences (MN)
- Chinese Academy of Sciences (CN)
- Corresponding author
- Yuasa, I.
- Venue
- Biochemical Genetics
- Published
- 2007-06-15
- Volume
- 45
- Issue
- 7-8
- Pages
- 535-542
- ISSN
- 0006-2928 (ISSN-L)
- 1573-4927
- OpenAlex
- W2117678878
- Cited by
- 28
- References
- 25
- Citations by year
- 2026: 1 · 2025: 1 · 2021: 2 · 2020: 2 · 2018: 2 · 2017: 4 · 2015: 2 · 2014: 2 · 2013: 1 · 2012: 4
- FWCI
- 0.69
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Biochemical Genetics (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › melanin and skin pigmentation
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Forensic and Genetic Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic diversity and population structure
- Keywords
- MC1R, OCA2, skin pigmentation, skin lightening, East Asian populations, allele frequency, genetic affinity, ultraviolet radiation
- MeSH terms
- Alleles, Female, Gene Frequency, Genetics, Population, Genotype, Humans, Male, Phenotype, Skin Pigmentation, Polymorphism, Single Nucleotide, Membrane Transport Proteins, Receptor, Melanocortin, Type 1, Asian People
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