Choi Mi-Ra, Shin Jung-Min, Shin Young-Ah, Chang Yun-Hee, Chang Min-Youl, Lim Cho-Ah, Sohn Kyung-Cheol, Seo Young-Joon, Kim Chang-Deok, Lee Jeung-Hoon, Lee Young
Department of Dermatology, College of Medicine, Chungnam National University, Daejeon, Korea.
ichrogene, Suwon, Korea.
Ann Dermatol. 2018 Aug;30(4):432-440. doi: 10.5021/ad.2018.30.4.432. Epub 2018 Jun 28.
Skin hydration is a common problem both in elderly and young people as dry skin may cause irritation, dermatological disorders, and wrinkles. While both genetic and environmental factors seem to influence skin hydration, thorough genetic studies on skin hydration have not yet been conducted.
We used a genome-wide association study (GWAS) to explore the genetic elements underlying skin hydration by regulating epidermal differentiation and skin barrier function.
A GWAS was conducted to investigate the genetic factors influencing skin hydration in 100 Korean females along with molecular studies of genes in human epidermal keratinocytes for functional study in vitro.
Among several single nucleotide polymorphisms identified in GWAS, we focused on Single Stranded DNA Binding Protein 3 (SSBP3) which is associated with DNA replication and DNA damage repair. To better understand the role of SSBP3 in skin cells, we introduced a calcium-induced differentiation keratinocyte culture system model and found that SSBP3 was upregulated in keratinocytes in a differentiation dependent manner. When SSBP3 was overexpressed using a recombinant adenovirus, the expression of differentiation-related genes such as loricrin and involucrin was markedly increased.
Taken together, our results suggest that genetic variants in the intronic region of could be determinants in skin hydration of Korean females. represents a new candidate gene to evaluate the molecular basis of the hydration ability in individuals.
皮肤水合作用是老年人和年轻人中常见的问题，因为皮肤干燥可能会导致刺激、皮肤病和皱纹。虽然遗传和环境因素似乎都影响皮肤水合作用，但尚未对皮肤水合作用进行全面的基因研究。
我们使用全基因组关联研究（GWAS）来探索通过调节表皮分化和皮肤屏障功能来影响皮肤水合作用的遗传因素。
进行了一项GWAS，以研究100名韩国女性中影响皮肤水合作用的遗传因素，并对人表皮角质形成细胞中的基因进行分子研究，以进行体外功能研究。
在GWAS中鉴定出的几种单核苷酸多态性中，我们重点关注与DNA复制和DNA损伤修复相关的单链DNA结合蛋白3（SSBP3）。为了更好地了解SSBP3在皮肤细胞中的作用，我们引入了钙诱导分化角质形成细胞培养系统模型，发现SSBP3在角质形成细胞中以分化依赖的方式上调。当使用重组腺病毒过表达SSBP3时，loricrin和involucrin等分化相关基因的表达明显增加。
综上所述，我们的结果表明，[基因名称]内含子区域的遗传变异可能是韩国女性皮肤水合作用的决定因素。[基因名称]代表了一个新的候选基因，用于评估个体水合能力的分子基础。
