Yang Xiao-Yan, Wu Wen-Juan, Yang Cheng, Yang Ting, He Jun-Dong, Yang Zhi, He Li
Department of Dermatology, First Affiliated Hospital of Kunming Medical University, Kunming, China.
Dermatology. 2013;227(3):202-8. doi: 10.1159/000353581. Epub 2013 Oct 19.
Acne vulgaris is a very common skin disorder. Previous studies have indicated that genetic background factors play key roles in the onset of acne. Our previous investigation implicated several genes in the androgen metabolism pathway with acne vulgaris in the Han Chinese population. Thus, we further investigated genes and genetic variants that play important roles in this pathway for their relationship with the pathology of acne. In this study, a total of 610 subjects, including 403 acne patients and 207 healthy controls, were genotyped for 15 single-nucleotide polymorphisms in HSD3B1 and HSD17B3 genes. This study shows that rs6428829 in HSD3B1 was associated with acne vulgaris in Han patients from Southwest China, even after adjusting for age and sex. The GG genotype was associated with an increased risk of acne vulgaris (p < 0.05) and G allele carriers were associated with an increased risk of acne vulgaris (p < 0.05). In addition, the haplotype AAT in HSD3B1 significantly increased the risk of acne vulgaris in the case-control study (p < 0.05). Furthermore, for another gene in this pathway, HSD17B3, the haplotype H8 was significantly associated with an increased risk of acne vulgaris. Based on these analyses, our study indicates that the cutaneous androgen metabolism-regulated genes HSD3B1 and HSD17B3 increase the susceptibility to acne vulgaris in Han Chinese from Southwest China.
寻常痤疮是一种非常常见的皮肤疾病。先前的研究表明，遗传背景因素在痤疮的发病中起关键作用。我们之前的调查发现，汉族人群中雄激素代谢途径中的几个基因与寻常痤疮有关。因此，我们进一步研究了该途径中起重要作用的基因及其遗传变异与痤疮病理的关系。在本研究中，对610名受试者进行了基因分型，其中包括403名痤疮患者和207名健康对照，检测了HSD3B1和HSD17B3基因中的15个单核苷酸多态性。本研究表明，即使在调整年龄和性别后，HSD3B1基因中的rs6428829与中国西南地区汉族患者的寻常痤疮有关。GG基因型与寻常痤疮风险增加相关（p < 0.05），G等位基因携带者与寻常痤疮风险增加相关（p < 0.05）。此外，在病例对照研究中，HSD3B1基因中的单倍型AAT显著增加了寻常痤疮的风险（p < 0.05）。此外，对于该途径中的另一个基因HSD17B3，单倍型H8与寻常痤疮风险增加显著相关。基于这些分析，我们的研究表明，皮肤雄激素代谢调节基因HSD3B1和HSD17B3增加了中国西南地区汉族人群对寻常痤疮的易感性。
