Research Laboratories, Nippon Menard Cosmetic Co., Ltd., Nagoya, Aichi, Japan.
Nagoya University-MENARD Collaborative Research Chair, Nagoya University Graduate School of Medicine, Nagoya, Aichi, Japan.
Exp Dermatol. 2022 Sep;31(9):1411-1420. doi: 10.1111/exd.14612. Epub 2022 May 30.
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 ), rs56391955 (p = 3.39 × 10 ), rs67560822 (p = 3.50 × 10 ), rs889126 (p = 3.78 × 10 ), rs57490083 (p = 3.99 × 10 )) 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 , rs6980503; p = 1.25 × 10 , rs61027543; p = 1.25 × 10 , rs16889363; p = 1.38 × 10 ) 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.
皱纹和松弛是由各种因素引起的，如紫外线；然而，最近的研究结果表明，有些人天生就有这种皮肤衰老的表型。单核苷酸多态性（SNP）在全基因组关联研究（GWAS）中对皱纹和松弛的发展有贡献。然而，这些发现主要是从欧洲和中国人群中获得的。目前，关于 SNP 参与日本人群皱纹和松弛发展的信息有限。因此，我们在此对 1041 名日本女性的外眼角皱纹和鼻唇沟进行了 GWAS。结果显示，5 个 SNP（19p13.2：rs2303098（p=3.39×10 ），rs56391955（p=3.39×10 ），rs67560822（p=3.50×10 ），rs889126（p=3.78×10 ），rs57490083（p=3.99×10 ））位于 COL5A3 基因内，与外眼角皱纹有关。关于鼻唇沟，8q24.11（rs4876369；p=1.05×10 ，rs6980503；p=1.25×10 ，rs61027543；p=1.25×10 ，rs16889363；p=1.38×10 ）被认为与 RAD21 基因表达有关。这些 SNP 在其他人群中没有报道过，是首次在日本女性人群中发现的。这些 SNP 可以作为标记来检测个体对皱纹和松弛的遗传易感性。
