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多发性硬化症的遗传学:当前及新出现的候选基因综述

The genetics of multiple sclerosis: review of current and emerging candidates.

作者信息

Muñoz-Culla Maider, Irizar Haritz, Otaegui David

机构信息

Multiple Sclerosis Unit, Instituto Biodonostia, San Sebastián, Spain ; Red Española de Esclerosis Múltiple (REEM), Barcelona, Spain.

出版信息

Appl Clin Genet. 2013 Aug 8;6:63-73. doi: 10.2147/TACG.S29107. eCollection 2013.

Abstract

Multiple sclerosis (MS) is a complex disease in which environmental, genetic, and epigenetic factors determine the risk of developing the disease. The human leukocyte antigen region is the strongest susceptibility locus linked to MS, but it does not explain the whole heritability of the disease. To find other non-human leukocyte antigen loci associated with the disease, high-throughput genotyping, sequencing, and gene-expression studies have been performed, producing a valuable quantity of information. An overview of the genomic and expression studies is provided in this review, as well as microRNA-expression studies, highlighting the importance of combining all the layers of information in order to elucidate the causes or pathological mechanisms occurring in the disease. Genetics in MS is a promising field that is presumably going to be very productive in the next decade understanding the cross talk between all the factors contributing to the development of MS.

摘要

多发性硬化症(MS)是一种复杂的疾病,环境、遗传和表观遗传因素决定了患该疾病的风险。人类白细胞抗原区域是与MS相关的最强易感性位点,但它并不能解释该疾病的全部遗传力。为了找到与该疾病相关的其他非人类白细胞抗原位点,已经进行了高通量基因分型、测序和基因表达研究,产生了大量有价值的信息。本综述提供了基因组和表达研究的概述,以及 microRNA 表达研究,强调了整合所有信息层面以阐明该疾病发生的原因或病理机制的重要性。MS遗传学是一个很有前景的领域,预计在未来十年将在理解促成MS发展的所有因素之间的相互作用方面取得丰硕成果。

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