CYP19基因多态性与多囊卵巢综合征和高雄激素血症易感性相关性研究

Correlation between CYP19 gene polymorphism and susceptibility to polycystic ovary syndrome and hyperandrogenism

目的 探究CYP19基因多态性与多囊卵巢综合征(PCOS)以及高雄激素血症的相关性。方法 回顾性选择2018年1月至2021年1月于乌鲁木齐市妇幼保健院确诊的120例PCOS患者为研究组,另选取同期接受体格检查的50名健康女性为对照组。采用聚合酶链反应(PCR)和限制性片段长度多态(RFLP)方式对两组女性CYP19基因多态性及分布开展分析;将研究组女性按照是否并发高雄激素血症区分为高雄激素血症组(n=30)和无高雄激素血症组(n=90),分析两组患者CYP19基因多态性差异。结果 TG和TT基因型在研究组、对照组组间分布差异有统计学意义(P<0.05);等位基因频率比较方面,研究组与对照组G和T频率分布组间差异均有统计学意义(P<0.05)。研究组女性TG基因型血睾酮水平明显高于GG基因型,GG基因型高于TT基因型,组间差异均有统计学意义(P<0.05);研究组各基因型血睾酮水平均高于对照组,组间差异均有统计学意义(P<0.05)。高雄激素血症组和无高雄激素血症组间TG和TT基因型分布差异均有统计学意义(P<0.05),GG基因型在两组间分布差异无统计学意义(P>0.05);高雄激素血症组和无高雄激素血症组间等位基因频率G和T频率分布组间差异具有统计学意义(P<0.05)。研究组患者中基因型仅与睾酮水平具有相关性(P<0.05)。结论 PCOS的发病机制很可能与关键基因的作用有关,PCOS患者的高雄激素血症发生可能与CYP19基因多态性具有一定相关性。

Objective To explore the correlation between CYP19 gene polymorphism and polycystic ovary syndrome(PCOS) and hyperandrogenism.Methods A total of 120 PCOS patients diagnosed in Urumqi Maternal and Child Health Hospital from January 2018 to January2021 were retrospetive selected as the study group,and 50 healthy women who received physical examination in Urumqi Maternal and Child Health Hospital at the same time were selected as the control group.Polymerase chain reaction(PCR) and restriction fragment length polymorphism(RFLP) were used to analyze the polymorphism and distribution of CYP19 gene in two groups of women,and the women in the research group were divided into hyperandrogenism group(n=30) and non-hyperandrogenism group(n=90) according to whether or not they were complicated with hyperandrogenism,and analyze the difference in CYP19 gene polymorphism between two groups.Results The differences of TG and TT genotypes between the the study group and the control group were statistically significant(P<0.05);in the aspect of allele frequency comparison,the difference of G and T frequency distribution between the study group and the control group was statistically significant(P<0.05).The blood testosterone level of TG genotype was significantly higher than that of GG genotype,and GG genotype was higher than TT genotype in the study group,and the difference between the two groups was statistically significant(P<0.05).Compared with the control group,the blood testosterone level of each genotype in the study group was higher than that in the control group,and the difference was statistically significant(P<0.05).The difference of TG and TT genotype distribution between hyperandrogenism group and non-hyperandrogenism group was statistically significant(P<0.05),but the difference of GG genotype distribution between the two groups was not statistically significant(P>0.05).The distribution of allele frequencies G and T between hyperandrogenism group and non-hyperandrogenism group had statistical significance(P<0.05).The genotype of patients in the study group was only correlated with testosterone level(P<0.05).Conclusion The pathogenesis of PCOS is probably related to the role of key genes,and hyperandrogenism in PCOS patients may be related to CYP19 gene polymorphism.