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

Genes Immun. 2010 Dec;11(8):660-4. doi: 10.1038/gene.2010.36. Epub 2010 Jun 24.


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.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • ATP Citrate (pro-S)-Lyase / genetics*
  • Adult
  • Case-Control Studies
  • Cell Cycle Proteins
  • Chromosome Mapping
  • Cytoskeletal Proteins
  • Genetic Predisposition to Disease
  • Genome-Wide Association Study
  • Genotype
  • Humans
  • Kallikreins / genetics*
  • Linkage Disequilibrium
  • Multiple Sclerosis / genetics*
  • Neprilysin / genetics*
  • Nerve Tissue Proteins / genetics*
  • Polymorphism, Single Nucleotide*


  • Cell Cycle Proteins
  • Cytoskeletal Proteins
  • MCPH1 protein, human
  • Nerve Tissue Proteins
  • ATP Citrate (pro-S)-Lyase
  • Kallikreins
  • MMEL1 protein, human
  • Neprilysin