New rare genetic variants in multiple sclerosis

Harding, Katharine E. and Robertson, Neil P. ORCID: https://orcid.org/0000-0002-5409-4909 2019. New rare genetic variants in multiple sclerosis. Journal of Neurology 266 (1) , pp. 278-280. 10.1007/s00415-018-9128-9

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Abstract

In recent years, our understanding of genetic factors associated with multiple sclerosis (MS) has considerably increased as a result of new analytical approaches to genome-wide association studies, together with the large numbers of samples available through international collaborations. It is now clear that MS risk is multigenic, and that common variants (now numbering more than 150) contribute only a relatively small proportion to the overall heritability of MS. As a result, attention has once again turned to the possibility of identifying rare variants through a number of novel as well as more traditional methodologies. However, detecting effects of rare variants once again poses challenges of statistical power, and several different approaches can be applied to manage this issue, some of which are illustrated below. In this month’s Journal Club we review five recent publications that have employed large international cohorts, multiplex families, or candidate gene approaches to investigate rare genetic variants and their association with MS risk.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG)
Publisher:	Springer Verlag (Germany)
ISSN:	0340-5354
Date of First Compliant Deposit:	29 November 2018
Date of Acceptance:	31 October 2018
Last Modified:	05 May 2023 02:42
URI:	https://orca.cardiff.ac.uk/id/eprint/117193

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