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


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; (2010) A non-synonymous SNP within membrane metalloendopeptidase-like 1 (MMEL1) is associated with multiple sclerosis. Genes and immunity. ISSN 1466-4879 DOI: https://doi.org/10.1038/gene.2010.36

[img]
Preview
Text - Published Version
License:

Download (425kB) | Preview

Abstract

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 x 10(-6)) in MS susceptibility.Genes and Immunity advance online publication, 24 June 2010; doi:10.1038/gene.2010.36.

Item Type: Article
Faculty and Department: Faculty of Epidemiology and Population Health > Dept of Non-Communicable Disease Epidemiology
PubMed ID: 20574445
Web of Science ID: 284877100007
URI: http://researchonline.lshtm.ac.uk/id/eprint/2648

Statistics


Download activity - last 12 months
Downloads since deposit
276Downloads
288Hits
Accesses by country - last 12 months
Accesses by referrer - last 12 months
Impact and interest
Additional statistics for this record are available via IRStats2

Actions (login required)

Edit Item Edit Item