Breakdown of multiple sclerosis genetics to identify an integrated disease network and potential variant mechanisms.

ABSTRACT: Genetics of multiple sclerosis (MS) are highly polygenic with few insights into mechanistic associations with pathology. In this study, we assessed MS genetics through linkage disequilibrium and missense variant interpretation to yield a MS gene network. This network of 96 genes was taken through pathway analysis, tissue expression profiles, single cell expression segregation, expression quantitative trait loci (eQTLs), genome annotations, transcription factor (TF) binding profiles, structural genome looping, and overlap with additional associated genetic traits. This work revealed immune system dysfunction, nerve cell myelination, energetic control, transcriptional regulation, and variants that overlap multiple autoimmune disorders. Tissue-specific expression and eQTLs of MS genes implica

SUBMITTER: Shepard CJ 

PROVIDER: S-EPMC6879814 | biostudies-literature | 2019 Nov

REPOSITORIES: biostudies-literature