Polymorphisms in the promoter regions of FAS and FASL genes as candidate genetic factors conferring susceptibility to endometriosis

R M Fernández, Raquel M. Fernández, Julio Noval, J A Noval, JC García-Lozano, J C García-Lozano, S Borrego, Salud Borrego, J. Moliní, J L Moliní, G Antiñolo, Guillermo Antiñolo
International journal of molecular medicine · 2005 · vol. 15(5) , pp. 865–9 · doi:10.3892/ijmm.15.5.865 · PMID:15806311 · W2030310735
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This study investigated whether polymorphisms in FAS and FASL promoter regions are associated with endometriosis susceptibility and found no statistically significant link in the studied population.

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This paper studied whether promoter polymorphisms in the apoptosis-related genes FAS (-1377G>A and -670A>G) and FASL (-843C>T) confer genetic susceptibility to endometriosis. Using a case-control design, the authors genotyped three variants by FRET in women with endometriosis and compared variant distributions versus women without symptoms and confirmed unaffected women, analyzing associations with chi-square tests with Yates correction. The results found no statistically significant differences between patient and control group distributions, suggesting these specific variants were not involved in endometriosis pathogenesis in their population. This paper is centrally about endometriosis—testing FAS/FASL promoter polymorphisms as candidate genetic susceptibility factors.

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Abstract

Although the pathophysiological mechanisms leading to endometriosis remain unknown, several hypothesis have been proposed, including a dysregulation of the normal apoptotic process which takes place in the endometrium. One of the apoptotic pathways playing a crucial role in the programmed cell death within the endometrium is the Fas-FasL system. In this study we have performed a case-control analysis in order to evaluate three polymorphisms located within FAS (-1377G>A and -670A>G) and FASL (-843C>T) genes, as susceptibility factors for endometriosis. We have analysed a series of women with endometriosis compared respectively to a group of women without symptoms of the disease, and to a group of confirmed unaffected women. The genotyping of the three variants was carried out by Fluorescence Resonance Energy Transfer (FRET) technology, and statistical analysis was performed using chi2 test with Yates correction. Our results show that the differences in the distribution of the polymorphic variants were not statistically significant when the group of patients was compared to the other groups. Thus, it seems to indicate that the variants here analysed are not involved in the pathogenesis of the disease in our population. However this does not let us to completely exclude such genes as potential candidates for the disease. A complete genetic analysis of the genes involved in the intricate regulatory system of the apoptosis may lead to the identification of susceptibility factors for the disease and a better understanding of its etiology.
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Print ISSN: 1107-3756 Online ISSN: 1791-244X International Journal of Molecular Medicine is an international journal devoted to molecular mechanisms of human disease. International Journal of Oncology is an international journal devoted to oncology research and cancer treatment. Covers molecular medicine topics such as pharmacology, pathology, genetics, neuroscience, infectious diseases, molecular cardiology, and molecular surgery. Oncology Reports is an international journal devoted to fundamental and applied research in Oncology. Experimental and Therapeutic Medicine is an international journal devoted to laboratory and clinical medicine. Oncology Letters is an international journal devoted to Experimental and Clinical Oncology. Explores a wide range of biological and medical fields, including pharmacology, genetics, microbiology, neuroscience, and molecular cardiology. International journal addressing all aspects of oncology research, from tumorigenesis and oncogenes to chemotherapy and metastasis. Multidisciplinary open-access journal spanning biochemistry, genetics, neuroscience, environmental health, and synthetic biology. Open-access journal combining biochemistry, pharmacology, immunology, and genetics to advance health through functional nutrition. Publishes open-access research on using epigenetics to advance understanding and treatment of human disease. An International Open Access Journal Devoted to General Medicine. Article - Authors: - Pages: 865-869|Published online on: May 1, 2005https://doi.org/10.3892/ijmm.15.5.865 - Expand metrics + Although the pathophysiological mechanisms leading to endometriosis remain unknown, several hypothesis have been proposed, including a dysregulation of the normal apoptotic process which takes place in the endometrium. One of the apoptotic pathways playing a crucial role in the programmed cell death within the endometrium is the Fas-FasL system. In this study we have performed a case-control analysis in order to evaluate three polymorphisms located within FAS (-1377G>A and -670A>G) and FASL (-843C>T) genes, as susceptibility factors for endometriosis. We have analysed a series of women with endometriosis compared respectively to a group of women without symptoms of the disease, and to a group of confirmed unaffected women. The genotyping of the three variants was carried out by Fluorescence Resonance Energy Transfer (FRET) technology, and statistical analysis was performed using χ2 test with Yates correction. Our results show that the differences in the distribution of the polymorphic variants were not statistically significant when the group of patients was compared to the other groups. Thus, it seems to indicate that the variants here analysed are not involved in the pathogenesis of the disease in our population. However this does not let us to completely exclude such genes as potential candidates for the disease. A complete genetic analysis of the genes involved in the intricate regulatory system of the apoptosis may lead to the identification of susceptibility factors for the disease and a better understanding of its etiology. Copy and paste a formatted citation Spandidos Publications style Fernández RM, Noval JA, García-Lozano JC, Borrego S, Moliní JL and Antiñolo G: Polymorphisms in the promoter regions of FAS and FASL genes as candidate genetic factors conferring susceptibility to endometriosis. Int J Mol Med 15: 865-869, 2005. APA Fernández, R.M., Noval, J.A., García-Lozano, J.C., Borrego, S., Moliní, J.L., & Antiñolo, G. (2005). Polymorphisms in the promoter regions of FAS and FASL genes as candidate genetic factors conferring susceptibility to endometriosis. International Journal of Molecular Medicine, 15, 865-869. https://doi.org/10.3892/ijmm.15.5.865 MLA Fernández, R. M., Noval, J. A., García-Lozano, J. C., Borrego, S., Moliní, J. L., Antiñolo, G."Polymorphisms in the promoter regions of FAS and FASL genes as candidate genetic factors conferring susceptibility to endometriosis". International Journal of Molecular Medicine 15.5 (2005): 865-869. Chicago Fernández, R. M., Noval, J. A., García-Lozano, J. C., Borrego, S., Moliní, J. L., Antiñolo, G."Polymorphisms in the promoter regions of FAS and FASL genes as candidate genetic factors conferring susceptibility to endometriosis". International Journal of Molecular Medicine 15, no. 5 (2005): 865-869. https://doi.org/10.3892/ijmm.15.5.865

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Condition tags

endometriosis

MeSH descriptors

Endometriosis fas Receptor Membrane Glycoproteins Polymorphism, Single Nucleotide Promoter Regions, Genetic Adult Case-Control Studies Endometriosis Fas Ligand Protein fas Receptor Female Fluorescence Resonance Energy Transfer Genetic Predisposition to Disease Humans Membrane Glycoproteins Middle Aged

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