title: Polymorphisms in the promoter regions of FAS and FASL genes as candidate genetic factors conferring susceptibility to endometriosis.
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.
authors.affiliation: Unidad Clínica de Genética y Reproducción, Hospitales Universitarios Virgen del Rocío, Seville, Spain.
authors.forename: R M
authors.initials: RM
authors.lastname: Fernández
authors.forename: J A
authors.initials: JA
authors.lastname: Noval
authors.forename: J C
authors.initials: JC
authors.lastname: García-Lozano
authors.forename: S
authors.initials: S
authors.lastname: Borrego
authors.forename: J L
authors.initials: JL
authors.lastname: Moliní
authors.forename: G
authors.initials: G
authors.lastname: Antiñolo
mesh_terms: D000328:Adult; D016022:Case-Control Studies; D004715:Endometriosis / Q000235:genetics*; D053222:Fas Ligand Protein; D005260:Female; D031541:Fluorescence Resonance Energy Transfer; D020022:Genetic Predisposition to Disease; D006801:Humans; D008562:Membrane Glycoproteins / Q000235:genetics*; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic; D019014:fas Receptor / Q000235:genetics*
chemical_list: C505661:FASLG protein, human; D053222:Fas Ligand Protein; D008562:Membrane Glycoproteins; D019014:fas Receptor