Relationship Between Estrogen Receptor Gene Polymorphism And Endometriosis Of The Uygurs And Hans In Xinjiang

Objective: To study the distribution of estrogen receptor (ER) gene polymorphisms between the Uygurs and Hans in xingjiang and the association of the polymorphisms with endometriosis of the Uygurs and the Hans. Methods: This study involved the Uygurs 172 (65 cases and 107 controls) and the Hans 190 (85 cases and 105 controls).The XbaI and PvuII polymorphisms of ER gene were detected by polymerase chain reaction -restriction fragment length polymorphism (PCR-RFLP) in genome DNA. These dates were analyzed by X2 test .Results: ER allelic frequencies of X,x and P, p alleles in endometriosis of the Uygurs and Hans were 22.3%, 11.1%; 16.8%, 83.2%; 23.1%, 76.9%;34.1%,65.9% and 21.8 % ,78.2 % ;29.0 % ,71.0 % ; 37.1 % ,62.9 % ; 36.7,63.3 % in endometriosis group and control group respectively. Xba I polymorphism of ER gene respectively were 7.7% , 29.2% , 63.1 % and 4.7% , 24.3% , 71.0% in endometriosis group and control group of the Uygurs. They were 3.5%, 36.5%, 60.0% and 7.6%, 41.9 %, 50.5% in the endometriosis group and control group of the Hans. Xba I polymorphisms of ER gene had no significant difference in frequencies of allele and genotypes in endometriosis groups and control groups of the Uygurs and the Hans (P > 0.05). The distribution of PvuII polymorphism respectively were 10.8%, 24.6%, 64.6% and13.1%> 44.9%, 42.0% in endometriosis group and control group of the Hans.They had also no statistically significant difference in the Hans (P>0.05). However , thedistribution of Pvu II polymorphism were 8.2 % 57.7%, 34.1% and 11.4 %. 50.5 %, 38.1%, there were significant difference of the distribution of Pvu II genotypes between the endometriosis group and control group of the Uygurs (P<0.05 ) . When we compared between the endometriosis groups of the Uygurs and Hans, we also found statistically significant difference in Pvu II polymophisms(P=0.000). Moreover, we found a statistically significant difference in the Xba I polymorphism of the two control groups (P=0.009). By analysising XbaI and PvuII polymorphisms of ER gene we can found, the pp and xx were the most genotypes of XbaI and PvuII polymorphisms of ER gene, the PP and XX were the least genotypes of the Xba I and PvuII polymorphisms of ER gene in the Uygurs and Hans. Conclusion: No evidence was found to suggest ER gene XbaI polymorphisms are related to endometriosis of the Uygurs and the Hans.An association was found by the study between Pvu II polymorphism and endometriosis in the Uygurs , but had not in the Hans. The two nationalities have different genetic predisposing factors to the development of endometriosis, and PvuII polymorphism might be one of the risk factors for endometriosis of the Uygurs.