2 research outputs found
Evaluación de polimorfismos en genes relacionados con la inflamación en pacientes mexicanos con epilepsia
Epilepsy is the most common neurological disease and approximately 30% of patients who suffer from it do not respond to drug treatment, that is, they present drug-resistant epilepsy. Temporal lobe epilepsy (TLE) is the most frequent form of focal epilepsy in adults and the majority of patients with TLE hippocampal sclerosis (HS) is also present. On the other hand, it is estimated that the incidence of seizures in patients with brain tumors (EPT) varies between 30% and 100%. Several studies suggest that there is a positive feedback loop between epileptogenesis and brain inflammation. Similarly, it is known that inflammation can be modulated by apolipoprotein E (ApoE). In Mexico, there are few articles estimating the influence of genetic factors and neuroinflammation in the course of epilepsy. For this reason, in this study, some variants present in PTGS2, CR1, CRP, TNF-α, IL-1, IL-1, IL-6, IL-10, and ApoE genes were evaluated in Mexican patients with refractory TLE with and without HS, and EPT. The following associations were identified: a) G/G and G/G genotypes of the variants rs1800795 (IL6) and rs20417 (PTGS2), respectively, with EPT. b) The G/G genotype of rs1799724 (TNF-α) with HS. c) The genotype C/G (rs1800947) and G/G (rs20417) located in CRP and PTGS2, respectively, with TLE. Finally, it was observed that the combination of the ε4 ApoE allele with the G/G genotype (rs1800795) of IL-6 and G/G (rs20417) of PTGS2 is associated with TLE. These results present possible genetic markers associated with inflammation for TLE, HS and EPT.La epilepsia es la enfermedad neurológica más común y aproximadamente el 30% de los pacientes que la padecen no responden al tratamiento con fármacos, es decir, tienen epilepsia refractaria. La epilepsia de lóbulo temporal (ELT) es la forma más frecuente de epilepsia focal en adultos y la mayorÃa de los pacientes con ELT presentan esclerosis hipocampal (EH). Por otro lado, se estima que la incidencia de convulsiones en pacientes con tumores cerebrales (EPT) varÃa entre el 30% y el 100%. Varios estudios sugieren que existe un ciclo de retroalimentación positiva entre la epileptogénesis y la inflamación cerebral. Asà mismo, se sabe que la inflamación puede ser modulada por la apolipoproteÃna E (ApoE). En México, son pocos los trabajos que estiman la influencia de factores genéticos y la neuroinflamación en el curso de la epilepsia, por tal motivo, en este estudio se analizaron algunas variantes presentes en los genes PTGS2, CR1, CRP, TNF-α, IL-1, IL-1, IL-6, IL-10, y ApoE, en pacientes mexicanos que presentan epilepsia refractaria de lóbulo temporal, con o sin EH y EPT. Se identificaron las siguientes asociaciones: a) los genotipos G/G y G/G de las variantes rs1800795 (IL6) y rs20417 (PTGS2), respectivamente, con la EPT. b) El genotipo G/G de rs1799724 (TNF- α) con la EH. c) El genotipo C/G (rs1800947) y G/G (rs20417) localizados en CRP y PTGS2, respectivamente, con ELT. Por último, se observó que la combinación del alelo ε4 de ApoE con el genotipo G/G (rs1800795) de IL-6 y G/G (rs20417) de PTGS2 se encuentra asociada con ELT. Estos resultados presentan posibles marcadores genéticos asociados a la inflamación para la ELT, EH y EPT
SORL1 polymorphisms in Mexican patients with Alzheimer\u27s disease
The present study evaluated the risk effect of 12 Single Nucleotide Polymorphisms in the SORL1 gene in the Mexican population using Late-Onset Alzheimer\u27s Disease (LOAD) and control subjects. Considering APOE as the strongest genetic risk factor for LOAD, we conducted interaction analyses between single nucleotide polymorphisms (SNPs) and the APOE genotype.
METHODS: Patients were interviewed during their scheduled visits at neurologic and geriatric clinics from different institutions. The LOAD diagnosis included neurological, geriatric, and psychiatric examinations, as well as the medical history and neuroimaging. Polymorphisms in
RESULTS: The A/A genotype in rs1784933 might be associated with an increased LOAD risk. Two blocks with high degree linkage disequilibrium (LD) were identified. The first block composed by the genetic variants rs668387, rs689021 and rs641120 showed a positive interaction (mainly the rs689021) with rs1784933 polymorphism. Moreover, we found a significant association between the
CONCLUSION: The rs1784933 polymorphism is associated with LOAD in Mexican patients. In addition, the presence o