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, F. Dudbridge, J. Wason, N. P. Robertson, P. L. De Jager, D. A. Hafler, L. F. Barcellos, A. J. Ivinson, D. Sexton, J. R. Oksenberg, S. L. HauserM. A. Pericak-Vance, J. Haines, A. Compston, S. Sawcer

Research output: Contribution to journalArticle

19 Scopus citations

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 ratio1=16, P=3.54 × 10-6) in MS susceptibility.

Original languageEnglish (US)
Pages (from-to)660-664
Number of pages5
JournalGenes and Immunity
Volume11
Issue number8
DOIs
StatePublished - Dec 2010

Keywords

  • genetics
  • MMEL1
  • multiple sclerosis

ASJC Scopus subject areas

  • Genetics(clinical)
  • Immunology
  • Genetics

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    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, N. P., De Jager, P. L., Hafler, D. A., Barcellos, L. F., Ivinson, A. J., Sexton, D., Oksenberg, J. R., ... Sawcer, S. (2010). A non-synonymous SNP within membrane metalloendopeptidase-like 1 (MMEL1) is associated with multiple sclerosis. Genes and Immunity, 11(8), 660-664. https://doi.org/10.1038/gene.2010.36