Biochemical Genetics

, Volume 45, Issue 7, pp 535–542

Distribution of Two Asian-Related Coding SNPs in the MC1R and OCA2 Genes

  • I. Yuasa
  • K. Umetsu
  • S. Harihara
  • A. Kido
  • A. Miyoshi
  • N. Saitou
  • B. Dashnyam
  • F. Jin
  • G. Lucotte
  • P. K. Chattopadhyay
  • L. Henke
  • J. Henke
Article

DOI: 10.1007/s10528-007-9095-9

Cite this article as:
Yuasa, I., Umetsu, K., Harihara, S. et al. Biochem Genet (2007) 45: 535. doi:10.1007/s10528-007-9095-9

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 FST 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.

Keywords

MC1R OCA2 Pigmentation Polymorphism Population study Skin color 

Copyright information

© Springer Science+Business Media, LLC 2007

Authors and Affiliations

  • I. Yuasa
    • 1
  • K. Umetsu
    • 2
  • S. Harihara
    • 3
  • A. Kido
    • 4
  • A. Miyoshi
    • 5
  • N. Saitou
    • 6
  • B. Dashnyam
    • 7
  • F. Jin
    • 8
  • G. Lucotte
    • 9
  • P. K. Chattopadhyay
    • 10
  • L. Henke
    • 11
  • J. Henke
    • 11
  1. 1.Division of Legal Medicine, Faculty of MedicineTottori UniversityYonagoJapan
  2. 2.Department of Experimental and Forensic Pathology, Faculty of MedicineYamagata UniversityYamagataJapan
  3. 3.Department of Biological Sciences, Graduate School of ScienceUniversity of TokyoTokyoJapan
  4. 4.Department of Legal Medicine, Faculty of MedicineUniversity of YamanashiNakakomaJapan
  5. 5.Department of Forensic MedicineFukuoka University School of MedicineFukuokaJapan
  6. 6.Division of Population GeneticsNational Institute of GeneticsMishimaJapan
  7. 7.Institute of Biological Sciences, Mongolian Academy of SciencesUlaan BaatorMongolia
  8. 8.Institute of Genetics and Developmental Biology, Chinese Academy of SciencesBeijingChina
  9. 9.Center of Molecular NeurogeneticsParisFrance
  10. 10.Amity Institute of Forensic Sciences, Defence ColonyNew DelhiIndia
  11. 11.Institut für BlutgruppenforschungCologneGermany