TY - JOUR
T1 - Genome-wide association studies in Japanese women identified genetic loci associated with wrinkles and sagging
AU - Okuno, Ryosuke
AU - Inoue, Yu
AU - Hasebe, Yuichi
AU - Igarashi, Toshio
AU - Kawagishi-Hotta, Mika
AU - Yamada, Takaaki
AU - Hasegawa, Seiji
N1 - Publisher Copyright:
© 2022 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
PY - 2022/9
Y1 - 2022/9
N2 - Wrinkles and sagging are caused by various factors, such as ultraviolet rays; however, recent findings demonstrated that some individuals are genetically predisposed to these phenotypes of skin aging. The contribution of single nucleotide polymorphisms (SNPs) to the development of wrinkles and sagging has been demonstrated in genome-wide association studies (GWAS). However, these findings were mainly obtained from European and Chinese populations. Limited information is currently available on the involvement of SNPs in the development of wrinkles and sagging in a Japanese population. Therefore, we herein performed GWAS on wrinkles at the outer corners of the eyes and nasolabial folds in 1041 Japanese women. The results obtained revealed that 5 SNPs (19p13.2: rs2303098 (p = 3.39 × 10−8), rs56391955 (p = 3.39 × 10−8), rs67560822 (p = 3.50 × 10−8), rs889126 (p = 3.78 × 10−8), rs57490083 (p = 3.99 × 10−8)) located within the COL5A3 gene associated with wrinkles at the outer corners of the eyes. Regarding nasolabial folds, 8q24.11 (rs4876369; p = 1.05 × 10−7, rs6980503; p = 1.25 × 10−7, rs61027543; p = 1.25 × 10−7, rs16889363; p = 1.38 × 10−7) was suggested to be associated with RAD21 gene expression. These SNPs have not been reported in other populations, and were first found in Japanese women population. These SNPs may be used as markers to examine the genetic predisposition of individuals to wrinkles and sagging.
AB - Wrinkles and sagging are caused by various factors, such as ultraviolet rays; however, recent findings demonstrated that some individuals are genetically predisposed to these phenotypes of skin aging. The contribution of single nucleotide polymorphisms (SNPs) to the development of wrinkles and sagging has been demonstrated in genome-wide association studies (GWAS). However, these findings were mainly obtained from European and Chinese populations. Limited information is currently available on the involvement of SNPs in the development of wrinkles and sagging in a Japanese population. Therefore, we herein performed GWAS on wrinkles at the outer corners of the eyes and nasolabial folds in 1041 Japanese women. The results obtained revealed that 5 SNPs (19p13.2: rs2303098 (p = 3.39 × 10−8), rs56391955 (p = 3.39 × 10−8), rs67560822 (p = 3.50 × 10−8), rs889126 (p = 3.78 × 10−8), rs57490083 (p = 3.99 × 10−8)) located within the COL5A3 gene associated with wrinkles at the outer corners of the eyes. Regarding nasolabial folds, 8q24.11 (rs4876369; p = 1.05 × 10−7, rs6980503; p = 1.25 × 10−7, rs61027543; p = 1.25 × 10−7, rs16889363; p = 1.38 × 10−7) was suggested to be associated with RAD21 gene expression. These SNPs have not been reported in other populations, and were first found in Japanese women population. These SNPs may be used as markers to examine the genetic predisposition of individuals to wrinkles and sagging.
KW - genome-wide association studies
KW - Japanese females
KW - sagging
KW - single nucleotide polymorphism
KW - wrinkles
UR - https://www.scopus.com/pages/publications/85130937324
UR - https://www.scopus.com/pages/publications/85130937324#tab=citedBy
U2 - 10.1111/exd.14612
DO - 10.1111/exd.14612
M3 - Article
C2 - 35587111
AN - SCOPUS:85130937324
SN - 0906-6705
VL - 31
SP - 1411
EP - 1420
JO - Experimental dermatology
JF - Experimental dermatology
IS - 9
ER -