Endothelial nitric oxide synthase G894T polymorphism increases the risk of infertility in women with endometriosis

R.C.P.C. e Silva, L.C. de Faria, K.S.F. e Silva, K.K.V.O. Moura, C.L. Ribeiro Júnior, L.A. Guillo
Published: May 15, 2019
Genet. Mol. Res. 18(2): GMR18201
DOI: https://doi.org/10.4238/gmr18201

Cite this Article:
R.C.P.Ce Silva, L.C. de Faria, K.S.Fe Silva, K.K.V.O. Moura, C.L.Ribeiro Júnior, L.A. Guillo (2019). Endothelial nitric oxide synthase G894T polymorphism increases the risk of infertility in women with endometriosis. Genet. Mol. Res. 18(2): GMR18201. https://doi.org/10.4238/gmr18201

About the Authors
R.C.P.C. e Silva, L.C. de Faria, K.S.F. e Silva, K.K.V.O. Moura, C.L. Ribeiro Júnior, L.A. Guillo

Corresponding Author
L.A. Guillo
Email: lidia.guillo@gmail.com

ABSTRACT
Endometriosis is a chronic disease with adverse implications for fertility. We investigated the G894T polymorphism in the endothelial nitric oxide synthase gene in fertile and infertile women with endometriosis. This prospective study included a group of 52 women with a laparoscopic diagnosis of endometriosis. DNA was extracted from blood obtained from 47 patients and analyzed by PCR. The overall cohort was divided into infertile (n = 24) and fertile (n = 23) subgroups and compared in terms of genotypic and allelic frequencies. The genotypic distribution followed Hardy-Weinberg equilibrium (c2 = 2.21, P = 0.137) and included the GG genotype in 28/47 GT in 14/47, and TT in 5/47 of the samples. Genotypic and allelic frequencies between fertile and infertile women with endometriosis showed that absence of the TT genotype was associated with fertility in endometriosis patients (P = 0.0623). The T allele was present in 17 patients of the infertile group and 7 patients of the fertile group (P = 0.025). This allele was significantly associated with infertility (relative risk = 2.21, 95% confidence interval 1.56 – 3.08) for the recessive model of inheritance. Our findings suggest that women with endometriosis and the G894T polymorphism in the endothelial nitric oxide synthase gene are at increased risk of infertility.

Key words: Endometriosis, eNOS, Genotype, Infertility, Polymorphism.

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