新疆维汉民族多囊卵巢综合征患者CYP17基因多态性及与发病机制的关系

摘要

目的:探讨细胞色素P450酶17(CYP17)基因多态性及其与多囊卵巢综合征(PCOS)发病机制的关系.方法:选择2015年1月～2017年2月我院收治的新疆维汉民族PCOS患者260例为PCOS组,另选取同期在我院门诊检查的健康育龄妇女237例为对照组,采用限制性片段长度多态性聚合酶链反应(PCR-RFLP)技术检测两组受试者的CYP17基因多态性,比较两组等位基因及基因频率的分布,结合其临床资料分析CYP17基因多态性与PCOS发病机制的关系.结果:PCOS组体质量指数(BMI)、卵泡刺激素(FSH)水平低于对照组,黄体生成激素(LH)、睾酮(TES)及黄体生成激素与卵泡刺激素的比值(LH/FSH)高于对照组,差异有统计学意义(P＜0.05).PCOS组CYP17基因A1A1、A1A2、A2A2型频率分别为34.62％、41.92％、23.46％,与对照组的34.18％、43.88％、21.94％比较差异无统计学意义(P＞0.05);PCOS组等位基因A1、A2频率为55.58％、44.42％,与对照组的56.12％、43.88％比较差异无统计学意义(P＞ 0.05);PCOS组不同CYP17基因型者的FSH、LH及LH/FSH水平整体比较差异无统计学意义(P＞0.05);PCOS组BMI水平A2A2＞A1A2＞A1A1,TES水平A2A2 ＜A1A1 ＜A1A2,差异均有统计学意义(均P＜0.05);对照组不同CYP17基因型者的BMI、FSH、LH、TES及LH/FSH水平整体比较差异均无统计学意义(P＞0.05).结论:CYP17基因-34bp处T/C单核苷酸多态性是人群中一种常见的碱基置换,与PCOS的发病机制无明显的相关性.%Objective:To explore the genetic polymorphism of cytochrome P450 enzyme 17(CYP17) and its relationship with the pathogenesis ofpolycystic ovary syndrome(PCOS).Methods:A total of 260 patients with PCOS of uyhan and han nationality in Xinjiang,who were admitted to Chinese Medicine Research Institute of Xinjiang Uygur Autonomous Region from January 2015 to February 2017,were chosen as PCOS group;the other 237 healthy fertile women,who were examined in the outpatient department during the same period,were chosen as control group.The CYP17 gene polymorphism in the two groups of subjects was detected by the restriction fragment length polymorphism polymerase chain reaction (PCR-RFLP) technique;the distribution of alleles and gene frequencies was compared between the two groups;combining with its clinical data,the relationship between CYP17 gene polymorphism and the pathogenesis of PCOS was analyzed.Results:Body Mass Index(BMI) and Follicle-stimulating hormone(FSH) levels in the PCOS group were lower than those in the control group;Luteotropic hormone(LH),Testosterone(TES) and LH/FSH levels in the PCOS group were higher than those in the control group,and the differences were statistically significant (P＜0.05).The frequencies of A1A1,A1A2,and A2A2 of CYP17 gene in the PCOS group were 34.62％,41.92％,23.46％,respectively,compared with 34.18％,43.88％,21.94％ in the control group,the difference was not statistically significant (P＞0.05).The allele frequency of A1 and A2 in the PCOS group were 55.58％,and 44.42％ respectively,compared with 56.12％ and 43.88％ in the control grouP,the difference was not statistically significant (P＞0.05).There was not statistical significance in FSH,LH and LH/FSH levels of different CYP17 genotypes in the PCOS group (P＞0.05).There was statistical significance in BMI level A2A2＞A1A2＞A1A1 and TES level A2A2＜A1A1＜A1A2 in the PCOS group (all P＜0.05).The BMI,FSH,LH,TES and LH/FSH levels of different CYP17 genotypes in the control group were not statistically significant (P＞0.05).Conclusion:CYP17 gene-34bp T/C nucleotide polymorphisms is a common base replacement in the population,which is not significantly related to the pathogenesis of PCOS.