Departamento de Psicología Aplicada, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Ameca 46600, Mexico.
Instituto de Terapéutica Experimental y Clínica, Departamento de Fisiología, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Ameca 46600, Mexico.
Genes (Basel). 2023 Nov 26;14(12):2130. doi: 10.3390/genes14122130.
Cognition is a set of brain processes that allow the individual to interact with their environment. Multiple sclerosis (MS) is a chronic inflammatory disease that affects the cerebral white matter of the brain cortex and spinal cord, leading to cognitive impairment (CI) in 40-60% of the patients. Many studies have determined that CI is linked to genetic risk factors. We aimed to evaluate the association between gene rs6265 polymorphism and cognitive impairment in Mexican patients with MS by performing a case-control study. Mestizo-Mexican patients diagnosed with MS based on McDonald's criteria were enrolled. Cases were MS patients with CI ( = 31) while controls were MS patients without CI ( = 31). To measure cognitive functioning in MS patients, a neuropsychological screening battery for MS (NSB-MS) was used. Genotyping of the rs6265 gene variant was performed using quantitative real-time PCR (qPCR) with TaqMan probes. The results showed no statistically significant differences in sociodemographic and disease variables between case and control groups. qPCR analysis showed that there were 68% Val/Val wild-type homozygotes, 29% Val/Met polymorphic heterozygotes, and 3% Met/Met polymorphic homozygotes. The presence of gene rs6265 polymorphism showed an increased probability (3.6 times) of global cognitive impairment.
认知是一组大脑过程，使个体能够与环境互动。多发性硬化症（MS）是一种慢性炎症性疾病，影响大脑皮层和脊髓的脑白质，导致 40-60%的患者出现认知障碍（CI）。许多研究已经确定，CI 与遗传风险因素有关。我们通过进行病例对照研究，旨在评估基因 rs6265 多态性与墨西哥 MS 患者认知障碍之间的关联。入组了基于 McDonald 标准诊断为 MS 的梅斯蒂索-墨西哥裔患者。病例为有 CI 的 MS 患者（=31），而对照组为无 CI 的 MS 患者（=31）。为了测量 MS 患者的认知功能，使用 MS 的神经心理学筛查量表（NSB-MS）进行了测试。使用 TaqMan 探针的定量实时 PCR（qPCR）对 rs6265 基因变异进行了基因分型。结果显示，病例组和对照组在社会人口统计学和疾病变量方面无统计学显著差异。qPCR 分析显示，68%为 Val/Val 野生型纯合子，29%为 Val/Met 多态性杂合子，3%为 Met/Met 多态性纯合子。基因 rs6265 多态性的存在显示出全球认知障碍的可能性增加（3.6 倍）。
