Avicenna J Med Biotech arij002 Avicenna Journal of Medical Biotechnology 2008-2835 2008-4625 Avicenna Research Institute ajmb10342 Arylamine N-acetyltransferase 2 Polymorphisms and the Risk of Endometriosis FayezDimanSaliminejadKioomarsDepartment of Biology, Science and Research Branch, Islamic Azad University, Tehran, IranIraniShivaKamaliKooroshReproductive Biotechnology Research Center, Avicenna Research Institute, ACECR , Tehran, IranMemarianiToktamKhorram KhorshidHamid RezaMolecular Immunology and Vaccine Research Laboratory, Pasteur Institute of Iran , Tehran, Iran 10 3 163 167 30 6 2017 17 10 2017

<p>Background: Human arylamine N-acetyltransferase 2 (<em>NAT2</em>) gene has a key role in xenobiotic metabolism through the conjugation of acetyl group to xenobiotic substances. <em>NAT2</em> has been suggested as a susceptibility factor in endometriosis; however, the results of studies have been controversial. In this study, the association of <em>NAT2</em> polymorphisms with susceptibility to endometriosis was evaluated in an Iranian population.&nbsp;<br /> Methods: This is an association study and totally 141 women with diagnosis of endometriosis and 158 healthy women as control group were analyzed for <em>NAT2</em> gene polymorphisms (C481T, A803G, G857A and G590A) by PCR-RFLP methods.<br /> 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).<br /> Conclusion: The <em>NAT2</em> G590A SNP may be associated with susceptibility to endometriosis and the 590A allele may have a protective role in development of endometriosis. The <em>NAT2</em> 481C, 803A, 590A, 587A haplotype was associated with a higher risk of endometriosis in Iranian population.</p>