Interpreting Non-coding Genetic Variation in Multiple Sclerosis Genome-Wide Associated Regions.

ABSTRACT: Multiple sclerosis (MS) is the most common neurological disorder in young adults. Despite extensive studies, only a fraction of MS heritability has been explained, with association studies focusing primarily on protein-coding genes, essentially for the difficulty of interpreting non-coding features. However, non-coding RNAs (ncRNAs) and functional elements, such as super-enhancers (SE), are crucial regulators of many pathways and cellular mechanisms, and they have been implicated in a growing number of diseases. In this work, we searched for possible enrichments in non-coding elements at MS genome-wide associated loci, with the aim to highlight their possible involvement in the susceptibility to the disease. We first reconstructed the linkage disequilibrium (LD) structure of the Italian po

SUBMITTER: Paraboschi EM 

PROVIDER: S-EPMC6304422 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature