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目的探讨与子宫内膜癌相关的细胞色素P450 19A1基因SNP位点多态性与多囊卵巢综合征(PCOS)发病及性激素的相关性。方法收集2011年12月到2012年7月于上海交通大学附属瑞金医院妇产科及生殖医学中心门诊就诊的PCOS患者180例,同期就诊的华东地区非PCOS患者172例为对照组,采用Taqman探针实时荧光PCR分型等位基因技术分析既往发现与内膜癌相关的细胞色素P450 19A1基因2个SNP位点rs4775936和rs727479基因型频率。结果 (1)rs4775936、rs727479的基因型分布符合Hardy-Weinberg遗传平衡定律检验,(χ2=0.53,0.769,P>0.05),rs727479基因型频率和等位基因在PCOS组和健康对照组的分布有统计学意义(P=0.023)。(2)rs727479位点的基因型频率与FSH水平相关(P=0.014)。结论 PCOS患者CYP19A1基因多态位点rs727479与PCOS发病有相关性,并且rs727479基因型与FSH水平相关,提示CYP19A1基因变异与酶活性的改变相关,是PCOS发病的调制器,但尚需进一步验证。
Objective To investigate the relationship between SNP loci of cytochrome P450 19A1 gene and the pathogenesis of polycystic ovarian syndrome (PCOS) and sex hormones in patients with endometrial carcinoma. Methods A total of 180 PCOS patients were enrolled in the outpatient department of Obstetrics and Gynecology and Reproductive Medicine Center of Ruijin Hospital affiliated to Shanghai Jiaotong University from December 2011 to July 2012. 172 cases of non-PCOS patients in East China during the same period were selected as control group, Real-time fluorescent PCR genotyping allele technique was used to analyze the frequency of rs4775936 and rs727479 genotypes in the two SNPs of cytochrome P450 19A1 gene, which were found in endometrial carcinoma. Results (1) The genotype distributions of rs4775936 and rs727479 were in accordance with the Hardy-Weinberg genetic balance test (χ2 = 0.53,0.769, P> 0.05). The frequencies of rs727479 genotype and allele in PCOS group and healthy control group were Statistical significance (P = 0.023). (2) The genotype frequency of rs727479 was correlated with FSH level (P = 0.014). Conclusion CYP19A1 gene polymorphism in PCOS patients with rs727479 PCOS pathogenesis and rs727479 genotypes and FSH levels, suggesting that CYP19A1 gene variation and enzyme activity changes related to PCOS pathogenesis of the modulator, but still need further verification.