Genetic modifiers of multiple sclerosis progression, severity and onset

Clinical Immunology : the Official Journal of the Clinical Immunology Society
A Dessa SadovnickCarles Vilariño-Güell

Abstract

The genetic contribution to clinical outcomes for multiple sclerosis (MS) has yet to be defined. We performed exome sequencing analysis in 100 MS patients presenting opposite extremes of clinical phenotype (discovery cohort), and genotyped variants of interest in 2016 MS patients (replication cohort). Linear and logistic regression analyses were used to identify significant associations with disease course, severity and onset. Our analysis of the discovery cohort nominated 38 variants in 21 genes. Replication analysis identified PSMG4 p.W99R and NLRP5 p.M459I to be associated with disease severity (p=0.002 and 0.008). CACNA1H p.R1871Q was found associated with patients presenting relapsing remitting MS at clinical onset (p=0.028) whereas NLRP5 p.M459I and EIF2AK1 p.K558R were associated with primary progressive disease (p=0.031 and 0.023). In addition, PSMG4 p.W99R and NLRP5 p.R761L were found to correlate with an earlier age at MS clinical onset, and MC1R p.R160W with delayed onset of clinical symptoms (p=0.010-0.041).

Citations

Jul 17, 2018·International Journal of Immunogenetics·Juraj JavorMária Bucová
Jun 13, 2020·Immunogenetics·Lisa F PopplewellCarles Vilariño-Güell
Apr 25, 2018·Current Treatment Options in Neurology·Vilija G JokubaitisBruce V Taylor
Aug 10, 2019·Annals of Human Genetics·Kayla C JacksonBibiana Bielekova
Sep 16, 2018·Journal of Neuroinflammation·Elia Gil-VareaManuel Comabella
Jul 13, 2019·Frontiers in Genetics·Nicole ZiliottoFrancesco Bernardi

❮ Previous
Next ❯

Related Concepts

Related Feeds

Autoimmune Diseases

Autoimmune diseases occur as a result of an attack by the immune system on the body’s own tissues resulting in damage and dysfunction. There are different types of autoimmune diseases, in which there is a complex and unknown interaction between genetics and the environment. Discover the latest research on autoimmune diseases here.

Related Papers

Value in Health : the Journal of the International Society for Pharmacoeconomics and Outcomes Research
N Greene, M Greene
© 2022 Meta ULC. All rights reserved