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Multiple sclerosis genetics
Author(s):
Stephen Sawcer
,
Robin J M Franklin
,
Maria Ban
Publication date
Created:
July 2014
Publication date
(Print):
July 2014
Journal:
The Lancet Neurology
Publisher:
Elsevier BV
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There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.
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. Copyright © 2014 Elsevier Ltd. All rights reserved.
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Journal
Title:
The Lancet Neurology
Abbreviated Title:
The Lancet Neurology
Publisher:
Elsevier BV
ISSN (Print):
14744422
Publication date Created:
July 2014
Publication date (Print):
July 2014
Volume
: 13
Issue
: 7
Pages
: 700-709
Article
DOI:
10.1016/S1474-4422(14)70041-9
PubMed ID:
24852507
SO-VID:
7c0cf960-31b2-43f0-b48e-618939c72541
Copyright ©
© 2014
License:
https://www.elsevier.com/tdm/userlicense/1.0/
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