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

Ban, M., McCauley, J. L., Zuvich, R., Baker, A., Bergamaschi, L., Cox, M., Kemppinen, A., D'Alfonso, S., Guerini, F. R., Lechner-Scott, J., Dudbridge, F., Wason, J., Robertson, Neil ORCID:, De Jager, P. L., Hafler, D. A., Barcellos, L. F., Ivinson, A. J., Sexton, D., Oksenberg, J. R., Hauser, S. L., Pericak-Vance, M. A., Haines, J., Compston, A. and 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. 10.1038/gene.2010.36

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

Item Type: Article
Date Type: Publication
Status: Published
Schools: MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG)
Subjects: Q Science > QH Natural history > QH426 Genetics
Q Science > QR Microbiology > QR180 Immunology
Uncontrolled Keywords: multiple sclerosis, MMEL1, genetics
Publisher: Nature Publishing Group
ISSN: 1466-4879
Last Modified: 20 Oct 2022 08:56

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