Format

Send to

Choose Destination
Clin Chim Acta. 2015 Sep 20;449:16-22. doi: 10.1016/j.cca.2015.01.034. Epub 2015 Feb 4.

Genetic determinants of risk and progression in multiple sclerosis.

Author information

1
Department of Neurology, University of California San Francisco, San Francisco, CA, USA.
2
Department of Neurology, University of California San Francisco, San Francisco, CA, USA. Electronic address: jorge.oksenberg@ucsf.edu.

Abstract

Multiple sclerosis (MS) is an autoimmune disease that represents a primary cause of neurological disability in the young adult population. Converging evidence supports the importance of genetic determinants for MS etiology. However, with the exception of the major histocompatibility complex, their nature has been elusive for more than 20 years. In the last decade, the advent of large genome-wide association studies has significantly improved our understanding of the disease, leading to the golden era of MS genetic research. To date more than 110 genetic variants have been firmly associated to an increased risk of developing MS. A large part of these variants tag genes involved in the regulation of immune response and several of them are shared with other autoimmune diseases, suggesting a common etiological root for this class of disorders. Despite the impressive body of data obtained in the last years, we are still far from fully decoding MS genetic complexity. For example, we ignore how these genetic factors interact with each other and with the environment. Thus, the biggest challenge for the next era of MS research will consist in identifying and characterizing the molecular mechanisms and the cellular pathways in which these risk variants play a role.

KEYWORDS:

Complex disease; GWAS; Multiple sclerosis; Risk variant

PMID:
25661088
PMCID:
PMC4524789
DOI:
10.1016/j.cca.2015.01.034
[Indexed for MEDLINE]
Free PMC Article

Supplemental Content

Full text links

Icon for Elsevier Science Icon for PubMed Central
Loading ...
Support Center