Linkage And Association Studies Of The Relationship Between Endometriosis And GSTM1, GSTT1, CYP1A1 Genes In Uygurs And Hans In Some States Of Xinjiang

Objective To examine the association between glutathione S-transferase (GST)M1 null, T1 null genotypes ,cytochrome P4501A1(CYP1A1) gene and endometriosis of Uygars and Hans in Xinjiang. Methods A polymerase chain reaction (PCR) method was used to detect the presence or absence of the GSTM1 and GSTT1 genes in genomic DNA from Uygars (107 controls and 41 cases) and Hans (105 controls and 80 cases) in Xinjiang. Polymerase chain reaction- restriction fragment length polymorphism(PCR-RELP) was employed to analyze the 3 genotypes of Mspl polymorphisms of CYP1A1 gene. Results The frequencies of the GSTM1 -null genotype,GSTT1-null genotype, combined GSTM1-null and GSTT1-null genotypes in endometriosis of Uygurs (51.2°%, 36.5%, 24.4%) were not significantly different from that in controls(53.2%, 29.9%, 13.1%). Similarly, no statistically significant differences were observed in the frequencies of GSTM1-null genotype in endometriosis cases of Hans (56.8%) when compared with the controlled population(51.8%),but statistically significant differences were observed in the frequencies of GSTT1-null genotype, combined GSTM1-null and GSTT1-null genotypes. When we compared Uygurs with Hans, we found no association in GSTM1-null genotype, GSTT1-null genotype, combined GSTM1-null and GSTT1-null genotypes in controls, so as to the GSTM1-null genotype,combined GSTM1-null and GSTT1-null genotypes in endometriosis cases. However, the frequency of GSTT1-null genotype in cases of Hans showed a significant increase compared to that in cases of Uygurs. The frequencies of genotypes TT,TC ,CC and two alleles T,C in controls of Uygurs (48.6%,42.9%,8.5%,70.1%, 29.9%) were not significantly different from that in patients with endometriosis (39.1%,46.3%,14.6%,62.2%,37.8%);The frequencies of genotypes TT,TC ,CC and two alleles T,C in controls of Hans (41.9%, 46.7%, 11.4% ,65.2%,34.8%) were not significantly different from those in patients with endometriosis(42.5%,51.2%, 6.3%, 68.1%,31.9%) either. When we compared Uygurs with Hans, no statistically significant differences were observed in the frequencies of genotypes and alleles of controls and those of cases. In the population with combined CYP1A1 MspI-GSTT1 null genotypes, no statistically significant differences were observed in the frequencies of the three genotypes and two alleles between cases and controls in Uygurs (TC+CCvsTT OR=0.756 P>0.05), same as in Hans. In the population with combined CYP1A1 MspI-GSTM1 null genotypes, statistically significant differences were observed in the frequencies of the three genotypes and two alleles between cases and controls in Uygurs(TC+CCvsTT OR=3.556 P<0.05), but not in Hans. Conclusion The GSTM1-null genotype ,GSTT1-null genotype , combined GSTM1- null and GSTT1-null genotypes may not act as risk factors in the development of endometriosis of Uygurs. No evidence was found to suggest an association of the GSTMl-null genotype with endometriosis of Hans , but an association was found in GSTT1-null genotype. The different distributions of frequencies for GSTT1 genetic polymorphism in Hans and Uygurs may be imply that the two nations have different genetic predisposing factors in the development of endometriosis. MspI polymorphisms of cytochrome P4501A1 in itself might not be associated with endometriosis in Uygurs and Hans in Xinjiang. Combined CYP1A1 MspI-GSTMl null genotypes might act as a risk factor in the development of endometriosis in Uygurs.