N-acetyltransferase 2 (NAT2) Gene Polymorphisms and the Effectiveness of Infertility Treatment in Patients with Peritoneal Endometriosis

Ekaterina D. Dubinskaya PhD¹; Alexander S. Gasparov PhD, ScD¹; Tatyana A. Fedorova PhD, ScD²; Natalia V. Lapteva¹

¹Peoples’ Friendship University, Moscow, Russian Federation;
²Science Center
of Obstetrics, Gynecology and Perinatology named after Academician V.I. Kulakov, Moscow, Russian Federation

*Corresponding author: Ekaterina D.Dubinskaya, MD, Associate Professor of Obstetrics, Gynecology and Reproductive Medicine, Faculty of Graduate Studies at Peoples’ Friendship University of Russia. 8, Miklukho-Maklaya st, Moscow, 117198, Russian Federation. E-mail: eka-dubinskaya@yandex.ru

 Published: March 25, 2014.


Today, infertility has become a global issue. WHO ranks it the fifth among the major diseases of those below 60 years, after alcoholism, depression, injuries and eyesight disorders. Numerous studies conducted on the problems of infertility in endometriosis still do not offer clear answers regarding the pathogenesis and mechanisms of this disease and its influences on fertility. According to the survey results, point mutations of the NAT2 gene (NAT2*5 and NAT2*6) have been identified in 75.6% of the patients with infertility problems and the peritoneal form of endometriosis, that create “slow” allelic variants, which exceed the average index in the population. The peculiarities of the NAT2 gene polymorphisms have been proven to be associated with the effectiveness of the infertility treatment of female patients with peritoneal endometriosis. In the group of non-pregnant patients, the presence of с.341Т>C, c.481C>T, c.590G>A and c.803A>G  heterozygous point mutations are 73.2, 73.2, 5.4, and 62.5%, respectively. The significant difference in the comparison of the allelic polymorphism during the various stages of the endometriosis was not identified. At stage III-IV endometriosis the frequency of three and more point substitutions was significantly higher. NAT2 gene polymorphisms can find use as an additional criterion for predicting the effectiveness of the infertility treatment of patients with peritoneal endometriosis.

endometriosis; infertility; NAT2 gene polymorphism.
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