雄激素相关基因CYP17多态性与囊肿型痤疮的相关性研究

Study on the correlation between CYP17 polymorphisms of androgen-related gene and the acne cystica of Han people in Hunan province

目的探讨雄激素相关基因CYP17多态性与湖南汉族囊肿型痤疮的相关性。方法提取寻常型和囊肿型痤疮患者及正常人的血DNA标本。设计引物通过PCR技术扩增出包括CYP17基因多态位点的片段,用限制性内切酶MspA1Ⅰ进行酶切,产物在2%琼脂糖凝胶上电泳,确定出CYP17基因的3种基因型,即A1A1、A1A2、A2A2,并经测序证实。结果寻常型组基因型A1A2频率分别与囊肿型组以及正常人组比较无显著性差异(X2=2.965,P=0.085,OR=0.590,95%CI0.323～1.078;X2=0.11,P=0.74,OR=0.904,95%CI0.498～1.641),囊肿型组基因型A1A2频率与正常人组比较有显著性差异(掊2=3.893,P=0.048,OR=1.875,95%CI1.001～3.510);寻常型组基因型A2A2频率和正常人组比较无显著性差异(X2=0.015,P=0.901,OR=0.958,95%CI0.490～1.875),囊肿型组基因型A2A2频率分别与寻常型组和正常人组比较有显著性差异(X2=6.383,P=0.012,OR=2.293,95%CI1.197～4.393;X2=6.42,P=0.011,OR=2.198,95%CI1.189～4.061)。结论 CYP17基因-34bp处T→C碱基置换的存在将增大患囊肿型痤疮的风险。

Objective To explore the correlation of the androgen-related CYP17 gene polymorphism and acne cystica of Han people in Hunan province. Methods Cases studied included patients with acne vulgarisms and acne cystic and healthy people. The polymorphism was investigated by PCR using DNA from peripheral blood lymphocytes. The transition（T→C） in the risk allele（A2） produced a new recognition site for the restriction endonuclease MspA1Ⅰ. Three genotypes of androgen-related CYP17 genes （A1A1,A1A2,A2A2） were determined and confirmed by sequencing. Results The frequency of the A1A2 gene was not significantly different（χ^2=2.965,P = 0.085,OR=0.590,95% CI 0.323～1.078;χ^2=0.11,P = 0.74,OR=0.904,95% CI 0.498～1.641）either from patients with acne vulgarisms and acne cystic or patients with acne vulgarisms and healthy controls. The frequency of the A1A2 gene was significantly different（χ^2=3.893,P = 0.048,OR=1.875,95% CI 1.001～3.510）between patients with acne cystic and healthy subjects. The frequency of the A2A2 gene was not significantly different（χ^2=0.015,P = 0.901,OR=0.958, 95% CI 0.490～1.875）between patients with acne vulgarisms and the healthy subjects. The frequency of the A2A2 gene was significantly different（χ^2=6.383, P = 0.012,OR=2.293,95% CI 1.197～4.393;χ^2=6.42,P = 0.011,OR=2.198, 95% CI 1.189～4.061）from either patients with acne cystic and acne vulgarisms or patients with acne cystic and healthy subjects. Conclusion The presence of base substitution in androgen-related CYP17 gene -34bp （T→C） can increase the risk of acne cystica.