Hassan Tokka M, El Amir Azza M, Nagy Nahla Elsayed, El-Khazragy Nashwa
Egypt Center for Research and Regenerative Medicine (ECRRM), Cairo, 11599, Egypt.
Department of Biotechnology, Faculty of Science, Cairo University, Giza, 12613, Egypt.
Mol Neurobiol. 2025 Jul 15. doi: 10.1007/s12035-025-05211-x.
Multiple Sclerosis (MS) is a chronic immune-mediated neurological disorder frequently accompanied by cognitive impairment, which affects up to 60% of patients and is associated with faster disease progression and greater disability. Interleukin-6 (IL-6), a key proinflammatory cytokine involved in neuroinflammation, has been implicated in MS pathogenesis, and the rs1800795 (-174 G>C) single nucleotide polymorphism (SNP) in the IL6 gene may influence disease susceptibility and clinical severity. This study investigated the association between the IL6 rs1800795 polymorphism and clinical outcomes in Epstein-Barr virus (EBV)-positive MS patients, with a particular focus on cognitive dysfunction. A case-control design was employed, including 300 participants: 150 EBV-positive MS patients and 150 matched healthy controls. Genotyping was performed using TaqMan-based PCR, and clinical data such as disability status, disease progression, and cognitive performance were analyzed. The CC genotype was significantly more frequent in MS patients and was associated with a higher risk of severe disability (OR = 6.11, p = 0.0004), faster disease progression, and increased likelihood of cognitive impairment. These findings suggest that the IL6 rs1800795 polymorphism, particularly the CC genotype, contributes to MS susceptibility and adverse clinical outcomes. IL6 genotyping may hold promise as a predictive tool for disease progression and cognitive decline in EBV-associated MS, offering insights for more personalized therapeutic strategies.
多发性硬化症(MS)是一种慢性免疫介导的神经系统疾病,常伴有认知障碍,影响多达60%的患者,并与疾病进展加快和残疾程度加重相关。白细胞介素-6(IL-6)是参与神经炎症的关键促炎细胞因子,与MS发病机制有关,IL6基因中的rs1800795(-174 G>C)单核苷酸多态性(SNP)可能影响疾病易感性和临床严重程度。本研究调查了IL6 rs1800795多态性与爱泼斯坦-巴尔病毒(EBV)阳性MS患者临床结局之间的关联,特别关注认知功能障碍。采用病例对照设计,包括300名参与者:150名EBV阳性MS患者和150名匹配的健康对照。使用基于TaqMan的PCR进行基因分型,并分析残疾状况、疾病进展和认知表现等临床数据。CC基因型在MS患者中显著更常见,且与严重残疾风险更高(OR = 6.11,p = 0.0004)、疾病进展更快以及认知障碍可能性增加相关。这些发现表明,IL6 rs1800795多态性,尤其是CC基因型,与MS易感性和不良临床结局有关。IL6基因分型有望作为EBV相关MS疾病进展和认知衰退的预测工具,为更个性化的治疗策略提供见解。