【摘要】 多发性硬化(multiple sclerosis, MS)是一种中枢神经系统(central nervous system, CNS)的慢性炎症性疾病，是年轻人致残的重要原因之一，目前尚无法治愈。尽管其确切病因尚不明确，全基因组关联分析(genome-wide association study, GWAS)作为一种新工具，已显著提升了我们对MS病因的理解。大规模的GWAS已确定了236个与MS风险增加相关的基因变异，其中大多数为非编码变异。这些变异可能与适应性和先天性免疫细胞在MS致病机制中的作用有关，提供了关于MS病因和机制的关键生物学见解。此外，部分MS相关变异也介导了其他自身免疫性疾病的风险。本文回顾了MS的遗传易感性，免疫相关的遗传变异在致病机制中的作用以及与其他自身免疫性疾病的关联。并讨论这些遗传风险变异对新型药物研发的影响，以及如何将个体基因信息应用于个性化治疗。更多还原

【Abstract】 Multiple sclerosis(MS) is a chronic inflammatory disease of the central nervous system and a leading cause of disability in young adults, with no known cure. Although the exact etiology of MS remains unclear, genome-wide association studies(GWAS) have significantly advanced our understanding of its causes. Large-scale GWAS have identified 236 genetic variants associated with increased risk of MS, most of which are non-coding. These variants may be related to the role of adaptive and innate immune cells in the pathogenesis of MS, providing crucial biological insights into the etiology and mechanisms of the disease. Additionally, some MS-related variants also mediate the risk of other autoimmune diseases. This paper reviews the genetic susceptibility to MS, the role of recently discovered neuroimmune-related genetic variants in its pathogenesis, and their association with other autoimmune diseases. Finally, the paper discusses how these genetic risk variants influence the development of new drugs and the application of individual genetic information to personalized treatments.更多还原