孕激素受体基因G1978T多态性与子宫内膜癌的相关性研究

Correlation between progesterone receptor G1978T polymorphism and endometrial cancer

目的:探讨子宫内膜癌与孕激素受体(progesterone receptor, PGR)基因G1978T多态性的关联。方法:先在Pubmed、EMBASE、中国知网和万方数据库中检索子宫内膜癌患者孕激素受体G1978T基因分型的文献,提取数据用STATA15软件进行Meta分析,计算I2和OR(95%CI)。然后收集子宫内膜癌(EC组)和正常女性(对照组)的全血标本,参照Genebank数据库序列,设计PGR基因G1978T位点野生型G和突变型T序列的特异性检测引物,并硫化修饰其3’末端,对采集样本进行高保真DNA聚合酶介导的PCR反应,检测其基因型,并辅以测序验证。结果:多种遗传模型分析显示PGR基因G1978T多态性与子宫内膜癌风险之间没有明显关联(等位基因模型OR=1.10,95%CI=0.98~1.24,P=0.072)。66例正常人全血DNA中检测出1例PGR基因G1978T突变,而在62例子宫内膜癌患者全血DNA中未检测出PGR基因G1978T突变。病例组和对照组两组之间基因型与等位基因频率的分布差异无统计学意义(P>0.05)。结论:PGR基因G1978T位点的多态性与子宫内膜癌的发生无关。

AIM:To explore the relationship between progesterone receptor(PGR)gene G1978T polymorphism and endometrial carcinoma.METHODS:After searching PubMed,EMBASE,Wan-fang and CNKI databases for literatures on PGR G1978T genotyping of endometrial cancer patients,the data were extracted and odds ratios(ORs)and 95%confidence intervals(CIs)were estimated using STATA15.The whole blood samples of endometrial carcinoma cases(EC group)and normal women(control group)were collected.Allelic-specific primers matching G1978T wild type G allele and mutant type T allele were designed with 3'terminal phosphorothioate modification,and the two-directional primer extension was performed using Exo+polymerase to genotype PGR gene G1978T polymorphismand Sanger sequencing was used to verifythe genotype. RESULTS: PGR gene G1978T mutationwas marginally associated with endometrialcarcinoma risk (ORper allele =1.10, 95%CI=0.98-1.24, P=0.072). At the same time, only 1 normal blood sampleswere found with PGR gene G1978T mutation,and the differences in genotypes and allele frequencybetween the case group and the controlgroup were not statistically significant(P>0.05).CONCLUSION: The G1978T polymorphism of thePGR gene maybe not be associated with the risk ofendometrial carcinoma.