Neurol. praxi. 2023;24(6):458-463 | DOI: 10.36290/neu.2023.055

Epidemiology and genetics of multiple sclerosis

MUDr. Mgr. Matouš Rous

Lékařská fakulta Univerzity Palackého v Olomouci

Neurologická klinika Fakultní nemocnice Olomouc

Multiple sclerosis (MS) is an autoimmune disease in which multiple factors contribute to its development. Currently, more and more studies are devoted to the role of genetics in the development of MS. Studies that mapped large sets of MS patients and controls identified 236 independent genetic variants associated with an increased risk of developing MS. None of these variants are found exclusively in MS patients. MS is primarily mediated by mild changes in gene regulation that result in changes in the functions of peripheral and tissue-bound cells of the immune system. Each genetic risk factor alone represents a small risk, the combination of which creates an individual genetic risk of developing MS. This polygenicity therefore determines the risk of developing MS in every individual. How environmental factors contribute remains a question. The study of genetic background together with epidemiologic studies using Mendelian randomization offer possibilities to demonstrate the causality of these effects. Current research focuses on expanding the cohorts, their diversity, studying them in more detail and translating the associations to understanding the pathophysiology of MS.

Keywords: multiple sclerosis, genetics, epidemiology, singe­‑nucleotide polymorphism, polygenicity.

Received: July 27, 2023; Revised: July 27, 2023; Accepted: August 18, 2023; Prepublished online: August 18, 2023; Published: December 7, 2023  Show citation