PTENIVS4基因多态性与子宫内膜息肉及子宫内膜癌风险的相关性

Correlation between PTEN IVS4 polymorphism and the risk of endometrial polyps and endometrial cancer

目的 探讨PTEN IVS4基因多态性（rs 3830675）与子宫内膜息肉及子宫内膜癌风险的关系.方法 本研究是以中国汉族人群为研究对象的病例对照研究,选取150例子宫内膜息肉患者为病例组,100例年龄相匹配的健康女性为对照组.应用聚合酶链反应-限制性片段长度多态性PCR-RFLP分析方法对单核苷酸多态性（r3830675）进行基因分型.结果 对照组、子宫内膜息肉组和子宫内膜癌组年龄、体质量指数、初产年龄、产次、吸烟及饮酒分布均无统计学差异（P＞0.05）.PTENIVS4基因型和等位基因分布在病例组和对照组中无统计学差异（χ2=0.996,df=2,P=0.608;χ2=0.651,df=1,P=0.420）.病例组与对照组携带（-/＋）、（＋/＋）基因型与（-/-）基因型相比发生子宫内膜息肉的风险无统计学差异（OR=0.864,95％ CI：0.505～1.478,P=0.593;OR=0.770,95％ CI：0.452-1.312,P=0.337）.携带等位基因[-]与等位基因[＋]相比发生子宫内膜息肉的风险也没有显著差异（OR=0.857,95％CI：0.589～1.247,P=0.420）.在病例组中,携带（-/＋）基因型较（-/-）基因型发生子宫内膜癌风险显著降低（OR=0.433,95％ CI：0.207～ 0.908,P=0.027）,等位基因[＋]较等位基因[-]发生子宫内膜癌风险显著降低（OR=0.542,95％CI：0.305～ 0.962,P=0.036）.结论 PTEN IVS4多态性可能是子宫内膜息肉恶化的危险因素.

Objective To explore the relationship between polymorphism （rs 3830675） in the PTEN and the risk of endometrial polyps and endometrial cancer. Methods In a hospital case-control study for the Chinese population in China, 150 patients with endometrial polyps and 100 sex matched healthy subjects were enrolled in this study. Polymorphism was genotyped by polymerase chain reaction-restriction fragment length polymorphism （PCR-RLFP） technique. Results There were no statistical differences in age, body mass index, primiparity age, parity, distribution of smoking and alcohol drinking between control group, cases with endometrial polyps group and cases with endometrial cancer group. No statistically significant differences were found in the genotypic distribution and allele frequency of PTEN IVS4 between the case and control subjects （χ 2=0.996, df=-2, P=0.608; χ2=0.651, df=1, P=0.420）, in the risk of endometrial polyps associated with （-/-） genotype compared with the （＋/-） and （＋/＋） genotype （OR=0.864, 95% CI： 0.505-1.478, P=0.593; OR=0.770, 95% CI： 0.452-1.312, P=0.337）, or in the risk of endometrial polyps associated with allele [-] and allele [＋] （OR=0.857, 95% CI： 0.589-1.247, P=0.420）. In the cases with endometrial polyps, a significantly decreased risk of endometrial cancer associated with （＋/-） genotype （OR=0.433, 95% CI： 0.207-0.908, P=0.027） was detected compared with the （-/-） genotype. Compared with the individual carrying allele [-], the risk of endometrial cancer with allele [＋] decreased （OR=0.542, 95% CI： 0.305-0.962, P=0.036）. Conclusion PTEN IVS4 polymorphism （rs 3830675） may be a risk factor of endometrial polyps progression.