DOI:10.18643/gieu.2014.158
"> DOI:10.18643/gieu.2014.158
"> DOI:10.18643/gieu.2014.158
"/> Gene polymorphism involment in endometriosis
<- Home <- Arhive <- Vol. 10, Issue 4, December 2014



GINECOeu10(4)158-161(2014)
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Gene polymorphism involment in endometriosis

A. M. Măluţan, N. Costin, D. Diculescu, R. Ciortea, O. Gaia, C. Bucuri, M. Rada, D. Mihu


Abstract: Endometriosis is a benign gynaecological disease with an unclear pathophysiology characterized by ectopic endometrium causing endometrium-like inflammatory lesions outside the uterine cavity. Genetic, endocrine, immunological, and environmental factors have been suggested in its pathogenesis. A great number of studies have investigated genetic polymorphisms as a possible factor contributing to the development of endometriosis, with a strikingly large amount of conflicting results. Most of the studies showed positive correlations between different polymorphisms and endometriosis. This relationship is most clearly seen in the case of pro-inflammatory and anti-inflammatory cytokines (interleukin (IL)-1, IL-6, IL-10, IL-18, tumor necrosis factor (TNF)-α, interferon-gamma), but also in the case of steroid-synthesizing enzymes and detoxifying enzymes and receptors, estradiol metabolism, growth factor systems, endothelial nitric oxide synthesis and adhesion molecules and matrix enzymes. On the other hand, a negative correlation between gene polymorphism and endometriosis seems to be present in relation to apoptosis, cell cycle and oncogenes. Moreover, some of the studied polymorphisms (TNF:g.[-1031T > C] and the TNF:g.[-863C > A], vascular endothelial growth factor (VEGF) +405 C/G) may be associated with advanced stage endometriosis or with the painful phenotype of endometriosis (IL-16 rs4778889 T/C). Contrary, some genes might be protective factors for endometriosis (rs699947 (A>C) and rs1570360 (G>A) polymorphism of the VEGF gene). In this review, we tried to summarize the most important data regarding the implication of genes with nucleotide polymorphisms in the pathogenesis of endometriosis, but future association studies may further illuminate the role of gene polymorphism in the pathogenesis of endometriosis.
DOI:10.18643/gieu.2014.158

Keywords: cytokines, inflammation, gene polymorphism, endometriosis.

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