en 30090210 <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> Endometriosis, Genome wide association study, NAT2, Polymorphism 163 167 https://www.ajmb.org/En/Article.aspx?id=10342 https://www.ajmb.org/PDF/En/FullText/10342.pdf DimanFayezDepartment of Biology, Faculty of Science, Science and Research Branch, Islamic Azad University, Tehran, Iran11352KioomarsSaliminejadDepartment of Biology, Faculty of Science, Science and Research Branch, Islamic Azad University, Tehran, Iran393ShivaIraniDepartment of Biology, Faculty of Science, Science and Research Branch, Islamic Azad University, Tehran, Iran11353KooroshKamaliReproductive Biotechnology Research Center, Avicenna Research Institute, ACECR, Tehran, Iran89ToktamMemarianiCentral Research Lab, North Khorasan University of Medical Sciences, Bojnurd, Iran11354Hamid RezaKhorram KhorshidGenetic Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran42