Sorbonne University, Assisstance publique-Hôpitaux de Paris, Department of Neurology, Hôpital de la Pitié-Salpêtrière, CIC neurosciences, Paris Brain Institute - ICM, Inserm, CNRS, Paris, France.
Rev Neurol (Paris). 2022 Jun;178(6):512-520. doi: 10.1016/j.neurol.2021.11.009. Epub 2022 Feb 9.
This article reviews the genetics of multiple sclerosis (MS), as well as intra-familial concordance and clinical correlations between different members of a family. Indeed, significant findings have been made on these topics in recent years.
The influence of specific genes on the clinical or radiological presentation of MS has been described as well as preliminary findings in the field of pharmacogenomics. Within familial forms of MS, correlations on specific aspects of the disease have been described, such as the age of onset or the clinical course between siblings.
The genetic contribution to the risk of developing MS is now estimated to be about 50%, with the genes involved mainly located within the major histocompatibility complex. Familial MS represents 12.6% of all MS cases, with the risk depending on the degree of genetic proximity to the index case. Furthermore, these familial cases seem to have a different clinical presentation from sporadic cases such as earlier worsening of disability and more severe long-term disability. Clinical correlations between different members of a family with MS have also been described, such as a similar age of onset between siblings, but deep clinical and radiological phenotyping is warranted to investigate MS disease severity concordance within familial cases of MS.
本文回顾多发性硬化症（MS）的遗传学，以及家族内不同成员之间的同病率和临床相关性。近年来，这些领域取得了重要发现。
特定基因对 MS 的临床或放射学表现的影响以及药物遗传学领域的初步发现已被描述。在 MS 的家族形式中，已描述了疾病特定方面的相关性，例如发病年龄或兄弟姐妹之间的临床病程。
目前估计遗传因素对 MS 发病风险的贡献约为 50%，涉及的基因主要位于主要组织相容性复合体。家族性 MS 占所有 MS 病例的 12.6%，风险取决于与索引病例的遗传接近程度。此外，这些家族性病例的临床表现与散发性病例不同，例如残疾恶化更早和更严重的长期残疾。MS 患者家族内不同成员之间的临床相关性也已被描述，例如兄弟姐妹的发病年龄相似，但需要深入的临床和放射学表型分析以研究家族性 MS 病例中的 MS 疾病严重程度一致性。
