Identifi cation of the Underlying Genetic Factors of Skin Aging in a Korean Population Study.

Genetic polymorphisms may affect the molecular mechanisms underlying determination of skin type. So far, several genetic studies have been reported; however, very few studies have been conducted to examine the relationship between genotype and skin phenotypes. In this study, the genome sequences of individuals tested for five cosmetic characteristics (wrinkles, moisture content, pigmentation, oil content, and ensitivity) were determined, and we also conducted five genome-wide association studies (GWASs) to identify predictive markers. Some single-nucleotide polymorphisms (SNPs) within those genes were more frequent in individuals exhibiting stronger traits. GWASs revealed that two genome-wide significant SNPs within FCRL5 and OCA2 genes were associated with wrinkles and pigmentation, respectively (p < 5 × 10-8), and that genomewide SNPs in 21 genes (wrinkles: FCRL5, REEP3, ADSS, and SPTLC1; moisture: TBX4, TRPM3, CEMIP2, CTSH, and TTC39C; pigmentation: OCA2, NCLN, TNS1, CDC42BPA, HS3ST4, and UNCX; oil: SYN2, CNDP1, GAS6, INSR, and TNFRSF19; and sensitivity: CREB5) might be associated with five skin phenotypes. Among these, a genome-wide significant SNP (rs117381658) and the SNP located downstream of FCRL5, which encodes a member of the immunoglobulin receptor family, were associated with an increased risk of wrinkles (p = 1.52 × 10-8). The other genome-wide significant SNP (rs74653330) was associated with a decreased risk of pigmentation (p = 1.04 × 10-8), which is located in the coding region of OCA2 that encodes for a transporter of melanin. Our study reports genetic factors associated with skin cosmetology parameters in the Korean population. We hope our findings will provide a foundation for further genetic and molecular studies related to custom cosmetics. Based on these findings, the industry will be able to provide consumers with ingredients capable of palliating the lack of function associated in genes with SNPs.

The age distribution of facial metrics in two large Korean populations.

Growth and alterations in craniofacial morphology have attracted interest in many fields of science, especially physical anthropology, genetics and forensic sciences. We performed an analysis of craniofacial morphology alterations by gender and ageing stage in Korean populations. We studied 15 facial metrics using two large Korean populations (1,926 samples from the Korea Medicine Data Center cohort and 5,643 samples from the Ansan-Ansung cohort). Among the 15 metrics, 12 showed gender differences and tended to change with age. In both of the independent populations, brow ridge height, upper lip height, nasal tip height, and profile nasal length tended to increase with age, whereas outer canthal width, right palpebral fissure height, left palpebral fissure height, right upper lip thickness, left upper lip thickness, nasal tip protrusion, facial base width, and lower facial width tended to decrease. In conclusion, our findings suggest that ageing (past 40 years of age) might affect eye size, nose length, upper lip thickness, and facial width, possibly due to loss of elasticity in the face. Therefore, these facial metric changes could be applied to individual age prediction and aesthetic facial care.