Pericak-Vance, Margaret A.

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

M Ban; J L McCauley; R Zuvich; A Baker; L Bergamaschi; M Cox; A Kemppinen; S D'Alfonso; F R Guerini; J Lechner-Scott; et al. (Profiled Author: Pericak-Vance, Margaret A.)

Department of Clinical Neuroscience, University of Cambridge, Addenbrooke's Hospital, Cambridge, UK. mb531@medschl.cam.ac.uk
Genes and immunity 2010;11(8):660-4.

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 ratio=1.16, P=3.54 × 10⁻⁶) in MS susceptibility.

1 Originating Grant

• 1.

  HAINES, JONATHAN L.

  Genetic Epidemiology of Multiple Sclerosis

  1 August 1995 - 31 August 2011

  NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE

  Total Funding: $ 11,623,718

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