Genome-wide association studies in Japanese women identified genetic loci associated with wrinkles and sagging

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.