RESUMO
Background: Human arylamine N-acetyltransferase 2 [NAT2] gene has a key role in xenobiotic metabolism through the conjugation of acetyl group to xenobiotic substances. NAT2 has been suggested as a susceptibility factor in endometriosis; however, the results of studies have been controversial. In this study, the association of NAT2 polymorphisms with susceptibility to endometriosis was evaluated in an Iranian population
Methods: This is an association study and totally 141 women with diagnosis of endometriosis and 158 healthy women as control group were analyzed for NAT2 gene polymorphisms [C481T, A803G, G857A and G590A] by PCR-RFLP methods
Results: The 590 GA genotype was significantly lower [p=0.001; OR=0.42, 95% CI: 0.25-0.71] in the patients [38.3%] than the control group [55.1%]. The 590A allele was significantly lower [p=0.033; OR=0.69, 95% CI: 0.49-0.79] in the patients [31.2%] compared with the controls [39.6%]. Analysis of haplotypes showed that NAT2 481C, 803A, 590A, 587A combination was significantly different between the case and control women [p= 0.029; OR=3.11, 95% CI: 1.13-8.52]
Conclusion: The NAT2 G590A SNP may be associated with susceptibility to endometriosis and the 590A allele may have a protective role in development of endometriosis. The NAT2 481C, 803A, 590A, 587A haplotype was associated with a higher risk of endometriosis in Iranian population