Yang Ting, Wu Wen-Juan, Tian Li-Ming, Zhang Deng-Feng, Yang Xiao-Yan, Qi Jue, Tu Ying, He Li
Department of Dermatology, First Affiliated Hospital of Kunming Medical University, Kunming, Yunnan, 650023, People's Republic of China.
Department of Dermatology, Huangshi Central Hospital, Affiliated Hospital of Hubei Polytechnic University, Edong Healthcare Group, Huangshi, Hubei, 435000, People's Republic of China.
Clin Cosmet Investig Dermatol. 2021 Mar 29;14:313-331. doi: 10.2147/CCID.S293171. eCollection 2021.
Androgens acting through the androgen receptor play a crucial role in the pathogenesis of acne. This study aimed to identify whether two key genes ( and ) involved in the synthesis and metabolism of androgens were associated with Pillsbury III-IV severe acne vulgaris.
We carried out a standard questionnaire survey about acne and enlisted 600 Pillsbury III-IV severe acne vulgaris patients and 652 healthy controls of Han Chinese descent from Yunnan, China in the study. Twenty-two single nucleotide polymorphisms (SNPs) were genotyped by SNaPshot assay and analyzed for association with severe acne.
There was no significant difference in gender between the two groups ( = 0.085), and the age of the acne case group was significantly lower than that of the control group ( < 0.001). Our results revealed that only two SNPs, rs6474 (p.Arg102Lys) ( = 0.001) and rs6465 ( = 0.025) of the gene were significantly associated with severe acne among the Han Chinese. When subjects were divided into males and females, significant associations were observed only in male patients with severe acne vulgaris for four variants: rs6474 (p.Arg102Lys) ( = 0.002); rs6465 ( = 0.012); rs8023263 ( = 0.037); and rs2470152 ( = 0.007). Haplotype analyses showed that the distribution of haplotypes was significantly associated with male patients, while no association of haplotypes was observed. The structure of the human consists of two substrate binding sites and one substrate access channel.
This study shed a light on a potentially important effect of and genes in severe acne vulgaris in the Han Chinese, especially for male patients. Future studies using independently verified datasets from a broader geographical spectrum will be valuable in identifying the causal and functional variants responsible for severe acne vulgaris within the and genes.
雄激素通过雄激素受体发挥作用，在痤疮发病机制中起关键作用。本研究旨在确定参与雄激素合成与代谢的两个关键基因（和）是否与Pillsbury III-IV级重度寻常痤疮相关。
我们开展了一项关于痤疮的标准问卷调查，并招募了600名Pillsbury III-IV级重度寻常痤疮患者以及652名来自中国云南的汉族健康对照者参与本研究。通过SNaPshot分析对22个单核苷酸多态性（SNP）进行基因分型，并分析其与重度痤疮的相关性。
两组之间性别无显著差异（=0.085），痤疮病例组年龄显著低于对照组（<0.001）。我们的结果显示，在汉族人群中，仅基因的两个SNP，rs6474（p.Arg102Lys）（=0.001）和rs6465（=0.025）与重度痤疮显著相关。当将受试者分为男性和女性时，仅在重度寻常痤疮男性患者中观察到四个变异体存在显著相关性：rs6474（p.Arg102Lys）（=0.002）；rs6465（=0.012）；rs8023263（=0.037）；以及rs2470152（=0.007）。单倍型分析表明，单倍型分布与男性患者显著相关，而未观察到单倍型的相关性。人类的结构由两个底物结合位点和一个底物通道组成。
本研究揭示了和基因在汉族重度寻常痤疮中可能具有的重要作用，尤其是对男性患者。未来使用来自更广泛地理范围的独立验证数据集进行研究，对于确定和基因中导致重度寻常痤疮的确切因果和功能变异体将具有重要价值。
