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

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（χ²=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.