Multiple Sclerosis patients carry an increased burden of exceedingly rare genetic variants in the inflammasome regulatory genes

• Published in: Scientific reports Vol. 9; no. 1; pp. 9171 - 10
• Main Authors: Vidmar, Lovro, Maver, Ales, Drulović, Jelena, Sepčić, Juraj, Novaković, Ivana, Ristič, Smiljana, Šega, Saša, Peterlin, Borut
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group UK 24.06.2019; Nature Publishing Group
• Subjects: 45/23; 631/208; 631/208/514/2254; Adult; Autoimmune diseases; Autophagy; Cohort Studies; DNA viruses; Etiology; Female; Genes, Regulator; Genetic diversity; Genetic Predisposition to Disease; Genetic variance; Humanities and Social Sciences; Humans; Immune system; Inactivation; Inflammasomes; Inflammasomes - genetics; Innate immunity; Male; multidisciplinary; Multiple sclerosis; Multiple Sclerosis - genetics; Mutation; Pathogenicity; Pathogens; Phagocytosis; Regulation; Science; Science (multidisciplinary); Signal transduction; Tyk2 protein; Whole Exome Sequencing; β-Interferon

The role of rare genetic variation and the innate immune system in the etiology of multiple sclerosis (MS) is being increasingly recognized. Recently, we described several rare variants in the NLRP1 gene, presumably conveying an increased risk for familial MS. In the present study we aimed to assess...