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Lancet Neurol. 2014 Jul;13(7):700-9. doi: 10.1016/S1474-4422(14)70041-9. Epub 2014 May 19.

Multiple sclerosis genetics.

Author information

1
Department of Clinical Neurosciences, Cambridge Biomedical Campus, University of Cambridge, Cambridge, UK. Electronic address: sjs1016@cam.ac.uk.
2
Wellcome Trust-Medical Research Council Cambridge Stem Cell Institute, University of Cambridge, Cambridge, UK; Department of Veterinary Medicine, University of Cambridge, Cambridge, UK.
3
Department of Clinical Neurosciences, Cambridge Biomedical Campus, University of Cambridge, Cambridge, UK.

Abstract

Genome-wide association studies have revolutionised the genetic analysis of multiple sclerosis. Through international collaborative efforts involving tens of thousands of cases and controls, more than 100 associated common variants have now been identified. These variants consistently implicate genes associated with immunological processes, overwhelmingly lie in regulatory rather than coding regions, and are frequently associated with other autoimmune diseases. The functional implications of these associated variants are mostly unknown; however, early work has shown that several variants have effects on splicing that result in meaningful changes in the balance between different isoforms in relevant tissues. Including the well established risk attributable to variants in genes encoding human leucocyte antigens, only about a quarter of reported heritability can now be accounted for, suggesting that a substantial potential for further discovery remains.

PMID:
24852507
DOI:
10.1016/S1474-4422(14)70041-9
[Indexed for MEDLINE]

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