Arylamine N-acetyltransferase 2 Polymorphisms and the Risk of Endometriosis.

BACKGROUND

Human arylamine N-acetyltransferase 2 gene has a key role in xenobiotic metabolism through the conjugation of acetyl group to xenobiotic substances. has been suggested as a susceptibility factor in endometriosis; however, the results of studies have been controversial. In this study, the association of 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 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 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 G590A SNP may be associated with susceptibility to endometriosis and the 590A allele may have a protective role in development of endometriosis. The 481C, 803A, 590A, 587A haplotype was associated with a higher risk of endometriosis in Iranian population.