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

Fayez

Diman

Saliminejad

Kioomars

Department of Biology, Science and Research Branch, Islamic Azad University, Tehran, Iran

Irani

Shiva

Kamali

Koorosh

Reproductive Biotechnology Research Center, Avicenna Research Institute, ACECR , Tehran, Iran

Memariani

Toktam

Khorram Khorshid

Hamid Reza

Molecular Immunology and Vaccine Research Laboratory, Pasteur Institute of Iran , Tehran, Iran

10 3 163 167 30 6 2017 17 10 2017

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.