Inserm, CNRS, Centre de Recherche de l'Institut Cerveau-Moelle, Hôpital Pitié-Salpêtrière, Université Pierre-et-Marie-Curie Paris-6, UMR 975-7225, 47, Boulevard de l'Hôpital 75013 Paris, France.
Rev Neurol (Paris). 2011 Nov;167(11):791-801. doi: 10.1016/j.neurol.2011.02.043. Epub 2011 Jun 16.
Multiple sclerosis (MS) is a dys-immune disease of the central nervous system with highly variable and unpredictable long-term outcome.
In the early 1970s association between HLA alleles and MS was established. Very recently, the power of Genome Wide Association Studies (GWAS) enabled the identification of several loci involved in immune functions as genetic risk factors in MS. Recent data suggest that common genetic variations might modulate the clinical phenotype of MS through a regulation of key pathophysiological pathways.
Identification of modifier genes might offer an opportunity to explore new relevant therapeutic targets and early prognostic markers. To date, studies of modifier genes in MS are numerous but results are still unclear. This research field may now benefit from large cohorts of patients available for association studies.
In this context, we propose a review of epidemiological and association studies of genetic modifying effect in MS.
多发性硬化症(MS)是一种中枢神经系统的免疫失调疾病,具有高度可变和不可预测的长期预后。
在 20 世纪 70 年代初,人们发现人类白细胞抗原(HLA)等位基因与 MS 之间存在关联。最近,全基因组关联研究(GWAS)的强大功能使人们能够确定多个与免疫功能相关的基因座作为 MS 的遗传风险因素。最近的数据表明,常见的遗传变异可能通过调节关键的病理生理途径来调节 MS 的临床表型。
鉴定修饰基因可能为探索新的相关治疗靶点和早期预后标志物提供机会。迄今为止,MS 修饰基因的研究很多,但结果仍不清楚。该研究领域现在可能受益于大量可供关联研究的患者队列。
在这种情况下,我们提出了对 MS 中遗传修饰作用的流行病学和关联研究的综述。