Abstract：
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.
摘要：
遗传多态性可能会影响确定皮肤类型的分子机制。到目前为止,已经报道了一些基因研究；然而，很少有研究来检查基因型和皮肤表型之间的关系。在这项研究中,个体的基因组序列测试了五种美容特征(皱纹，水分含量,色素沉着,含油量,和敏感性)被确定，我们还进行了五项全基因组关联研究(GWASs)以确定预测标记。这些基因中的某些单核苷酸多态性（SNP）在表现出较强性状的个体中更为频繁。GWASs显示FCRL5和OCA2基因内的两个全基因组显著的SNP与皱纹和色素沉着有关,分别为(p<5×10-8)，以及21个基因中的全基因组SNP(皱纹：FCRL5，REEP3，ADSS，和SPTLC1;水分：TBX4，TRPM3，CEMIP2，CTSH，和TTC39C；色素沉着：OCA2，NCLN，TNS1,CDC42BPA,HS3ST4和UNCX；油：SYN2、CNDP1、GAS6、INSR、和TNFRSF19；和敏感性：CREB5）可能与五种皮肤表型有关。其中,全基因组显著的SNP（rs117381658）和位于FCRL5下游的SNP，编码免疫球蛋白受体家族的成员，与皱纹风险增加相关(p=1.52×10-8)。其他全基因组显著SNP（rs74653330）与色素沉着风险降低相关（p=1.04×10-8），位于OCA2编码区，编码黑色素转运蛋白。我们的研究报告了韩国人群中与皮肤美容参数相关的遗传因素。我们希望我们的发现将为与定制化妆品相关的进一步遗传和分子研究奠定基础。基于这些发现,该行业将能够为消费者提供能够缓解与SNP相关的基因缺乏功能的成分。
