Investigation of VEGF gene polymorphism rs35569394 in endometriosis

Abstract

ABSTRACT Introduction: Endometriosis is a chronic gynecological condition characterized by the presence of endometrial tissue in locations outside the uterus. Its symptoms include dysmenorrhea, dyspareunia, chronic pelvic pain, infertility, dysuria, and dyschezia. Several studies have related the vascular endothelial growth factor (VEGF) gene polymorphisms as a factor for the development of endometriosis. Objectives: The aim of this study was to compare the frequency of the VEGF gene polymorphism rs35569394 in women with endometriosis and a control group, as well as to investigate the association of this polymorphism with the risk of endometriosis. Methods: This case-control study included 45 endometriosis patients (cases) and 78 controls. The molecular analysis was performed by polymerase chain reaction (PCR). The chi-square test was used to compare the genotype and allele frequencies, and the Hardy-Weinberg equilibrium was also tested using the chi-square test, considering the significance of p < 0.05. Results: The frequency of the II, ID and DD genotype was 24.4% versus 26.9%; 35.6% versus 37.2%; and 40% versus 35.9%, in patients and the control group, respectively. The allele frequencies were I: 0.42 (cases) and 0.45 (control); D: 0.58 (cases) and 0.55 (control). The allele and genotype frequency of VEGF -2549I/D polymorphism was not different between women with endometriosis and the control. Conclusion: In the present study, the frequency of the VEGF gene polymorphism rs35569394 is similar between cases and control. This genetic variant is not associated with endometriosis in the investigated population.