Genetics of Multiple Sclerosis: An Overview and New Directions
- 1Department of Neurology, Brigham & Women’s Hospital and Harvard Medical School, Boston, Massachusetts 02115
- 2Program in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts 02142
- Correspondence: npatsopoulos{at}rics.bwh.harvard.edu
Abstract
The contribution of genetic inheritance in multiple sclerosis was established early on. Although multiple sclerosis is not a Mendelian disease, its incidence and prevalence is higher in family members of affected individuals compared with the general population. Throughout the last decade, several small studies failed to identify any robust genetic associations besides the classic associations in the major histocompatibility complex region. During the past few years, genome-wide association studies (GWAS) have revolutionized the genetics of multiple sclerosis, uncovering more than 200 implicated genetic loci. Here, we describe these main findings and discuss the new avenues that these discoveries lay open.
