Association study of theTNF-α−1031T/C andVEGF + 450G/C polymorphisms with susceptibility to endometriosis

Abstract

Tumor necrosis factor-α (TNF-α), a multifunctional proinflammatory cytokine, and vascular endothelial growth factor (VEGF), a major mediator of angiogenesis and vascular permeability, have been investigated in endometriosis patients of different populations. This study was carried out to investigate whether the two polymorphisms, TNF-α -1031T/C and VEGF +450G/C are associated with susceptibility to endometriosis in an Iranian population. Totally, 135 women with diagnosis of endometriosis and 173 women with no evidence of the disease were included in this study. The -1031T/C and +450G/C polymorphisms were assessed by PCR-RFLP analysis, using the two restriction enzymes BbsI and BsmFI, respectively. The frequencies of the TNF-α -1031TC genotype (p = 0.038) and the -1031 C allele (p = 0.048) were significantly lower in patients than control group. In contrast, no significant differences in the genotype and allele frequencies of the VEGF +450G/C polymorphism were found between the case and control groups. Our results suggest that the TNF-α -1031T/C polymorphism was associated with susceptibility to endometriosis in Iranian population, and the -1301C allele may have a protective role in development of endometriosis; On the contrary, we find no association between the VEGF +450G/C polymorphism and risk of endometriosis.

The association between vascular endothelial growth factor (VEGF) +405G>C genetic polymorphism and endometriosis

“…[3][4][5][6][7][9][10][11][12][13][14] The general characteristics of included eligible studies in the meta-analysis are presented in Table 1. Among the enrolled literatures, there were three studies of Asians decent 3,5,9 and eight studies of Caucasians decent.…”

“…Among the enrolled literatures, there were three studies of Asians decent 3,5,9 and eight studies of Caucasians decent. 4,6,7,[10][11][12][13][14] These subjects were carried out in Korean, Japanese, Indian, Spanish, Turkish, Austrians, Italians, and Iranians. The polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP), and mass-assay methods were utilized to analyze the VEGF þ405G>C genetic polymorphisms genotypes in these enrolled articles.…”

“…3,8 Endometriosis is a multi-factorial disease which causes by both environmental and genetic factors. 3,4 However, the pathogenesis of endometriosis is still poorly understood. In recent years, several published articles indicated that the vascular endothelial growth factor (VEGF) is one of the most important candidate genes for the development of endometriosis, and genetic polymorphisms in VEGF gene might be potentially associated with the risk of endometriosis.…”

“…[1][2][3][4][5][6][7] The prevalence of endometriosis has been reported to be approximately 2-18% among women who seek tubal ligations, and about 5-50% of women with infertile. 3,8 Endometriosis is a multi-factorial disease which causes by both environmental and genetic factors.…”

“…In recent years, several published articles indicated that the vascular endothelial growth factor (VEGF) is one of the most important candidate genes for the development of endometriosis, and genetic polymorphisms in VEGF gene might be potentially associated with the risk of endometriosis. [3][4][5][6][7][9][10][11][12][13][14][15][16][17][18][19][20] The þ405G>C genetic polymorphism in 5 0 -untranslated region of VEGF gene (rs2010963), one of the most studied genetic variants resulting from G to C mutations, has been reported to affect on the regulation of VEGF gene expression and contributed to the risk of endometriosis in diverse populations. [3][4][5][6][7][9][10][11][12][13][14][15][16][17] However, findings from these published articles were conflicting but not conclusive.…”