Results
| PMID | 23952049 |
| Gene Name | TNF |
| Condition | Endometriosis |
| Association |
Associated |
| Mutation | TNFA (-1031T/C), VEGFA(+450G/C) |
| Population size | 308 |
| Population details | 308 (135 women with diagnosis of endometriosis, 173 women with no evidence of the disease) |
| Sex | Female |
| Associated genes | TNFA, VEGF |
| Other associated phenotypes |
Endometriosis |
|
Gynecol Endocrinol. 2013 Nov;29(11):974-7. doi: 10.3109/09513590.2013.824956. Saliminejad, Kioomars| Memariani, Toktam| Ardekani, Ali M| Kamali, Koorosh| Edalatkhah, Haleh| Pahlevanzadeh, Zhamak| Khorram Khorshid, Hamid Reza Reproductive Biotechnology Research Center, Avicenna Research Institute, Academic Center for Education Culture and Research (ACECR) , Tehran , Iran and. Tumor necrosis factor-alpha (TNF-alpha), 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-alpha -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-alpha -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-alpha -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. Mesh Terms: 5' Untranslated Regions| Adult| Alleles| Body Mass Index| Case-Control Studies| Endometriosis/complications/*genetics/metabolism/physiopathology| Female| Gene Frequency| Genetic Association Studies| Genetic Predisposition to Disease| Humans| In |
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