RESUMEN
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.
Asunto(s)
Endometriosis/genética , Glicoproteínas de Membrana/genética , Polimorfismo de Nucleótido Simple , Regiones Promotoras Genéticas , Receptor fas/genética , Adulto , Estudios de Casos y Controles , Proteína Ligando Fas , Femenino , Transferencia Resonante de Energía de Fluorescencia , Predisposición Genética a la Enfermedad , Humanos , Persona de Mediana EdadRESUMEN
The RANTES (regulated upon activation normal T cells expressed and secreted) chemokine, is known to be expressed in endometriotic lesions in a concentration correlating with the severity of endometriosis. Since it has been widely demonstrated that endometriosis has a genetic basis, we postulated that the gene encoding RANTES could be a good candidate gene for the disease. We have used fluorescence resonance energy transfer (FRET) technology to genotype and evaluate the role of the variants -403G-->A and -28C-->G, located within the promoter region of the gene, as susceptibility factors in a cohort of Spanish women with endometriosis. No differences have been found in the allelic frequencies of both variants nor in the haplotype/ genotype distribution between patients and controls. These data are consistent with the lack of association between these polymorphisms and endometriosis in our population. They do not exclude completely a possible role of other variants within RANTES gene in this pathology.
Asunto(s)
Quimiocina CCL5/genética , Endometriosis/genética , Polimorfismo Genético , Regiones Promotoras Genéticas , Adulto , Secuencia de Bases , Estudios de Cohortes , Endometriosis/inmunología , Femenino , Transferencia Resonante de Energía de Fluorescencia , Genotipo , Humanos , Persona de Mediana Edad , Datos de Secuencia Molecular , Mutación Puntual , EspañaRESUMEN
El síndrome de regresión caudal (SRC) es un cuadro malformativo que se observa con mayor frecuencia en los embarazos de madres con diabetes mellitus pregestacional, con mal control metabólico. En este artículo describimos los hallazgos ecográficos, que incluyen la brusca interrupción de la columna lumbar y la posición en postura de Buda de los miembros inferiores, encontrados en un caso de SRC diagnosticado a las 17 semanas de embarazo en una gestante con diabetes mellitus pregestacional (AU)