Examination of the Missense Mutation (rs74653330, Ala481Thr) of the Oculocutaneous Albinism 2 Gene to the Facial Skin Characteristics

Abstract

ObjectiveA melanin pathway gene, oculocutaneous albinism 2 (OCA2) operates the first step of the melanin synthesis pathway and is known to associate with the albinism and pigmentation. Our previous study identified a significant association (p-value<5x10-8) between a OCA2 missense mutation (rs74653330, Ala481thr) and skin pigmentation. Since melanin pigment protects the skin from damage by ultraviolet light and we hypothesize that the rs74653330 SNP effect on the skin phenotypes not only the melanin, but also the other skin characteristics such as wrinkle formation, moisture level and sebum levels. We examined the association of the rs74653330 SNP to 19 skin characteristics consisting of wrinkle, moisture, melanin, erythema, brightness, and sebum using eight cosmetological instruments. ResultsThe rs74653330 SNP showed significant association with melanin phenotypes, specifically in young and middle groups. The melanin levels of pigmented area showed more melanin in middle age group but less in old group. Also, the rs74653330 SNP affect to wrinkle formation and sebum secretion. Conclusively, the analyses in this study clearly indicate that rs74653330 SNP affects to the melanin related skin phenotypes, and to the wrinkle formation or sebum secretion.