TY - JOUR
T1 - Association of melanogenesis genes with skin color variation among Japanese females
AU - Abe, Yuko
AU - Tamiya, Gen
AU - Nakamura, Tomohiro
AU - Hozumi, Yutaka
AU - Suzuki, Tamio
N1 - Funding Information:
This work was supported by grants, from the Ministry of Education, Sports, Culture, Science and Technology of Japan to T.S. (numbers 22591236 ) from the Ministry of Health, Welfare and Labor of Japan to T.S. ( H24-039 , 24132701 ), from the Global COE Program of the Japan Society for the Promotion of Science .
Funding Information:
The authors are grateful to all donors for providing samples. We also thank Ms. Kazuko Ohtani (Manager of the Nursing Department, Yamagata University Hospital, Japan) for helping us to collect the samples. This work was supported by grants from the Ministry of Education, Sports, Culture, Science and Technology of Japan to T.S. (numbers 22591236 ), from the Ministry of Health, Welfare and Labor of Japan to T.S. ( H24-039 , 24132701 ), and from the Global COE Program of the Japan Society for the Promotion of Science .
PY - 2013/2
Y1 - 2013/2
N2 - Background: Skin color mainly reflects pigmentation resulting from melanin. Although many of the detailed molecular mechanisms involved in melanin pigmentation are being revealed, little is understood about the genetic components responsible for variations in skin color within or between human populations. Objective: To investigate the contribution of the melanogenesis genes to skin color variation in Japanese population. Methods: We examined the association between 12 variants of four pigmentation-related genes (TYR, OCA2, SLC45A2, MC1R) and variations in the melanin index of 456 Japanese females using a multiple regression analysis. Results: OCA2 A481T (p=6.18×10-8) and, OCA2 H615R (p=5.72×10-6) were strongly associated with the melanin index. In addition, our results yielded evidence for a significant association in a combined analysis of males and females (OCA2 A481T p=2.1×10-11, and OCA2 H615R p=1.0×10-7). Then five surviving variants including A481T, H615R, T387M in OCA2, D125Y in TYR, and T500P in SLC45A2, accounted for contribution to about 11% of the melanin index. Conclusion: The skin color analysis among Japanese was successfully carried out to determine the association with genetic components by using the melanin index as an objective indicator. We believe that a better understanding of the genetic basis of skin color variation will be valuable for elucidating the correlation of pigmentation phenotype with skin-cancer risk.
AB - Background: Skin color mainly reflects pigmentation resulting from melanin. Although many of the detailed molecular mechanisms involved in melanin pigmentation are being revealed, little is understood about the genetic components responsible for variations in skin color within or between human populations. Objective: To investigate the contribution of the melanogenesis genes to skin color variation in Japanese population. Methods: We examined the association between 12 variants of four pigmentation-related genes (TYR, OCA2, SLC45A2, MC1R) and variations in the melanin index of 456 Japanese females using a multiple regression analysis. Results: OCA2 A481T (p=6.18×10-8) and, OCA2 H615R (p=5.72×10-6) were strongly associated with the melanin index. In addition, our results yielded evidence for a significant association in a combined analysis of males and females (OCA2 A481T p=2.1×10-11, and OCA2 H615R p=1.0×10-7). Then five surviving variants including A481T, H615R, T387M in OCA2, D125Y in TYR, and T500P in SLC45A2, accounted for contribution to about 11% of the melanin index. Conclusion: The skin color analysis among Japanese was successfully carried out to determine the association with genetic components by using the melanin index as an objective indicator. We believe that a better understanding of the genetic basis of skin color variation will be valuable for elucidating the correlation of pigmentation phenotype with skin-cancer risk.
KW - Melanin index
KW - Melanogenesis genes
KW - Skin color
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U2 - 10.1016/j.jdermsci.2012.10.016
DO - 10.1016/j.jdermsci.2012.10.016
M3 - Article
C2 - 23165166
AN - SCOPUS:84873568960
SN - 0923-1811
VL - 69
SP - 167
EP - 172
JO - Journal of Dermatological Science
JF - Journal of Dermatological Science
IS - 2
ER -
