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A non-synonymous SNP within membrane metalloendopeptidase-like 1 (MMEL1) is associated with multiple sclerosis

Lookup NU author(s): Professor James WasonORCiD


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Several single-nucleotide polymorphism (SNP) genome-wide association studies (GWASs) have been completed in multiple sclerosis (MS). Follow-up studies of the variants with the most promising rankings, especially when supplemented by informed candidate gene selection, have proven to be extremely successful. In this study we report the results of a multi-stage replication analysis of the putatively associated SNPs identified in the Wellcome Trust Case Control Consortium non-synonymous SNP (nsSNP) screen. In total, the replication sample consisted of 3444 patients and 2595 controls. A combined analysis of the nsSNP screen and replication data provides evidence implicating a novel additional locus, rs3748816 in membrane metalloendopeptidase-like 1 (MMEL1; odds ratio1=16, P=3.54 × 10-6) in MS susceptibility. © 2010 Macmillan Publishers Limited All rights reserved.

Publication metadata

Author(s): Ban M, McCauley JL, Zuvich R, Baker A, Bergamaschi L, Cox M, Kemppinen A, D'Alfonso S, Guerini FR, Lechner-Scott J, Dudbridge F, Wason J, Robertson NP, De Jager PL, Hafler DA, Barcellos LF, Ivinson AJ, Sexton D, Oksenberg JR, Hauser SL, Pericak-Vance MA, Haines J, Compston A, Sawcer S

Publication type: Article

Publication status: Published

Journal: Genes and Immunity

Year: 2010

Volume: 11

Issue: 8

Pages: 660-664

Online publication date: 24/10/2010

ISSN (print): 1466-4879

ISSN (electronic): 1476-5470


DOI: 10.1038/gene.2010.36

PubMed id: 20574445


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