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; +14 more... 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, 11 (8). pp. 660-664. ISSN 1466-4879 DOI: https://doi.org/10.1038/gene.2010.36

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 × 10⁻⁶) in MS susceptibility.

Additional Information

Item Type	Article
Faculty and Department	Faculty of Epidemiology and Population Health > Dept of Non-Communicable Disease Epidemiology
PubMed ID	20574445
ISI	284877100007
Related URLs	OA Location