Exome-Sequence Analyses of Four Multi-Incident Multiple Sclerosis Families.

ABSTRACT: Multiple sclerosis (MS) is an inflammatory demyelinating disease of the Central Nervous System (CNS). Currently, it is estimated that 30-40% of the phenotypic variability of MS can be explained by genetic factors. However, low susceptibility variants identified through Genome Wide Association Study (GWAS) were calculated to explain about 50% of the heritability. Whether familial high-risk variants also contribute to heritability is a subject of controversy. In the last few years, several familial variants have been nominated, but none of them have been unequivocally confirmed. One reason for this may be that genetic heterogeneity and reduced penetrance are hindering detection. Sequencing a large number of MS families is needed to answer this question. In this study, we performed whole exom

SUBMITTER: Zrzavy T 

PROVIDER: S-EPMC7563748 | biostudies-literature | 2020 Aug

REPOSITORIES: biostudies-literature