Tian Li-Ming, Ke Dan
Department of Dermatology, Wuhan No.1 Hospital, Hospital of Traditional Chinese and Western Medicine Affiliated to Hubei University of Chinese Medicine, Wuhan Hospital of Traditional Chinese and Western Medicine Affiliated to Huazhong University of Science and Technology, Wuhan, 430022, People's Republic of China.
Department of Dermatology, Chongqing Traditional Chinese Medicine Hospital, Chongqing, 400000, People's Republic of China.
Clin Cosmet Investig Dermatol. 2021 Feb 4;14:123-128. doi: 10.2147/CCID.S292797. eCollection 2021.
To study the relationship between the single nucleotide polymorphisms (SNPs) of the human β-defensin 1-gene (DEFB1) and the genetic susceptibility of acne vulgaris in the Han Chinese ethnic group.
A total of 104 patients with acne vulgaris and 126 healthy participants were included in our study. We analyzed the association between acne vulgaris and the polymorphisms in the DEFB1 G-52A, C-44G, and G-20A gene. We then analyzed the relationship between the different genotypes and the susceptibility to acne vulgaris.
The frequency of DEFB1 C-44G genetic polymorphisms between the acne vulgaris group and the control group was significantly different (P < 0.05). The frequency of DEFB1 G-20A genetic polymorphisms between the acne vulgaris group and the control group was also significantly different (P < 0.05).
The -44G or -20A allele showed a low expression in acne vulgaris, which has already been shown to correlate with the low risk of acne vulgaris among Chinese Han patients. This further supports the contribution of the DEFB1 gene to the pathogenesis of acne.
研究人类β-防御素1基因（DEFB1）单核苷酸多态性（SNP）与汉族寻常痤疮遗传易感性之间的关系。
本研究共纳入104例寻常痤疮患者和126名健康参与者。我们分析了寻常痤疮与DEFB1基因G-52A、C-44G和G-20A多态性之间的关联。然后分析了不同基因型与寻常痤疮易感性之间的关系。
寻常痤疮组与对照组之间DEFB1 C-44G基因多态性频率有显著差异（P<0.05）。寻常痤疮组与对照组之间DEFB1 G-20A基因多态性频率也有显著差异（P<0.05）。
-44G或-20A等位基因在寻常痤疮中表达较低，这已被证明与中国汉族患者寻常痤疮的低风险相关。这进一步支持了DEFB1基因在寻常痤疮发病机制中的作用。
