Multiple sclerosis (MS) exhibits a well-documented increased incidence in individuals with respective family history, that is, is a heritable disease. In the last decade, genome-wide association studies have enabled the agnostic interrogation of the whole genome at a large scale. To date, over 200 genetic associations have been described at the strict level of genome-wide significance. Our current understanding of MS genetics can explain up to half of the disease’s heritability, raising the important question of whether this is enough information to leverage toward improving diagnosis in MS. Parallel advancements in technologies that allow the characterization of the full transcriptome down to the single-cell level have enabled the generation of an unprecedented wealth of information. Transcriptional changes of putative causal cells could be utilized to identify early signs of disease onset. These recent findings in genetics and genomics, coupled with new technologies and deeply phenotyped cohorts, have the potential to improve the diagnosis of MS.

中文翻译：

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多发性硬化症中的遗传和基因表达特征

多发性硬化症 (MS) 在具有各自家族史的个体中显示出有据可查的增加的发病率，也就是说，是一种遗传性疾病。在过去的十年中，全基因组关联研究使对整个基因组的大规模调查成为可能。迄今为止，已经在全基因组显着性的严格水平上描述了 200 多种遗传关联。我们目前对 MS 遗传学的理解可以解释多达一半的疾病遗传性，提出了一个重要的问题，即这是否是用于改善 MS 诊断的足够信息。允许将完整转录组表征到单细胞水平的技术的平行进步使得产生前所未有的丰富信息成为可能。假定的因果细胞的转录变化可用于识别疾病发作的早期迹象。这些遗传学和基因组学的最新发现，加上新技术和深度表型队列，有可能改善 MS 的诊断。