摘要
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。
AIM： To investigate the association between polymorphism of aromatase cytochrome P450 （CYP19A1） gene and polycystic ovarian syndrome （PCOS） in Chinese population. Methods： From Dec 2011 to July 2012, 180 PCOS cases treated in the Reproductive Medical Centerand department of Gynecologic and Obstetric Ruijin Hospital, Medical School of Shanghai Jiaotong Uni- versity, matched with 172 reproductive women as controls were enrolled in this study, Genotypes of two single nueleotide polymor- phisms （rs4775936, rs727479） covering CYP19A1 gene were chosed which had been identified having related with endometrial carci- noma （EC）. Allelic discrimination of the CYP19A1 polymorphisms was assessed by using the Taqman genotyping assay with primers and probes obtained from Applied Biosystems. Results ： （ 1 ） The genotype distributions of the SNPs in PCOS group and healthy control group were consistent with the Hardy- Weinberg equilibrium （X2 = 0. 53, 0. 769, P 〉 0. 05 ）. There was significant difference in the distribution of the allelic frequency and genotype of rs727479 observed between the two groups （ P = 0. 023 ）. （ 2 ） There was signifi- cant difference in the level of FSH at difference genotype of rs727479 （ P = 0. 014 ）. Conclusion ： The polymorphism rs727479 in CYP19A1 gene was associated with PCOS. The genotype of rs727479 was associated with FSH. Although CYP19 may not be a major genetic determinant of PCOS, it may act as a genetic modifier of the hyperandrogenic phenotype of PCOS.
出处
《中国优生与遗传杂志》
2013年第4期42-44,47,共4页
Chinese Journal of Birth Health & Heredity
基金
上海市浦江人才计划基因(编号:11PJ1406600)
关键词
多囊卵巢综合征
子宫内膜癌
芳香化酶
单核苷酸多态性
睾酮
游离睾酮
Polycystic ovary syndrome （PCOS）
Endometrial carcinoma （EC）
Single nucleotide polymorphisms （SNP）
Aromatase cytochrome P450 gene
Testosterone
Free testosterone
