Reevaluation of Single Nucleotide Polymorphism of OCA2 in Koreans

Ann-Yae Na (나안예); KIM, DAE-KWANG (김대광)

doi:10.11637/aba.2016.29.3.93

Reevaluation of Single Nucleotide Polymorphism of OCA2 in Koreans

Anatomy & Biological Anthropology
Abbr : Anat Biol Anthropol
2016, 29(3), pp.93~98
DOI : 10.11637/aba.2016.29.3.93
Publisher : 대한체질인류학회
Research Area : Medicine and Pharmacy > Anatomy

Ann-Yae Na ¹, KIM, DAE-KWANG ¹

¹계명대학교

Accredited

ABSTRACT

Oculocutaneous albinism type 2 (OCA2) is an autosomal recessive disorder that results from mutations in the P gene, and has approximately 70% function of melanin biosynthesis in the melanocytes. While the overwhelming majority of pigmentation studies have focused on European populations, very little is known about the gene and mechanisms affecting skin lightening in Asian population. The main goal of the study was to test the distribution of three polymorphisms located in a pigmentation candidate gene, OCA2, in a sample of individuals of Koreans (N=250). The genetic markers were selected for polymorphisms that had an allele frequency difference of at least 30% between East Asian populations and European populations. We investigated Minor Allele Frequencies (MAFs) for each of three polymorphisms within OCA2 and reevaluated the difference of the allele frequency along with populations. MAFs of polymorphisms of OCA2 were presented the different frequency in Korean samples (SNP rs1800414 (His615Arg), A allele=38.8%, rs74653330 (Ala481Thr), A allele=0.8% and rs7497270 (intronic polymorphism), C allele=33.4%). While our results had different distributions to European and Caucasians, they showed similar frequencies with East Asian. This study was to reevaluate the distribution of pigmentation candidate gene in Korean samples, further domestic study will aid in developments of the genetic information on worldwide study.

KEYWORDS

Koreans, OCA2, Single nucleotide polymorphism

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* References for papers published after 2023 are currently being built.

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This paper was written with support from the National Research Foundation of Korea.

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Anatomy & Biological Anthropology 2023 KCI Impact Factor : 0.33

Reevaluation of Single Nucleotide Polymorphism of OCA2 in Koreans

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* References for papers published after 2023 are currently being built.

Anatomy & Biological Anthropology 2023 KCI Impact Factor : 0.33

Reevaluation of Single Nucleotide Polymorphism of OCA2 in Koreans

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