The expanding genetic overlap between multiple sclerosis and type I diabetes

Genes Immun. 2009 Jan;10(1):11-4. doi: 10.1038/gene.2008.83. Epub 2008 Nov 6.


Familial clustering of autoimmune disease is well recognized and raises the possibility that some susceptibility genes may predispose to autoimmunity in general. In light of this observation, it might be expected that some of the variants of established relevance in one autoimmune disease may also be relevant in other related conditions. On the basis of this hypothesis, we tested seven single nucleotide polymorphisms (SNPs) that are known to be associated with type I diabetes in a large multiple sclerosis data set consisting of 2369 trio families, 5737 cases and 10,296 unrelated controls. Two of these seven SNPs showed evidence of association with multiple sclerosis; that is rs12708716 from the CLEC16A gene (P=1.6 x 10(-16)) and rs763361 from the CD226 gene (P=5.4 x 10(-8)). These findings thereby identify two additional multiple sclerosis susceptibility genes and lend support to the notion of autoimmune susceptibility genes.

Publication types

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

MeSH terms

  • Adaptor Proteins, Signal Transducing / genetics
  • Adult
  • Alleles
  • Amino Acid Substitution
  • Antigens, Differentiation, T-Lymphocyte / genetics*
  • Australia
  • Belgium
  • Case-Control Studies
  • Confidence Intervals
  • Diabetes Mellitus, Type 1 / genetics*
  • Family
  • Genetic Predisposition to Disease*
  • Humans
  • Lectins, C-Type / genetics*
  • Linkage Disequilibrium
  • Middle Aged
  • Monosaccharide Transport Proteins / genetics*
  • Multiple Sclerosis / genetics*
  • Norway
  • Odds Ratio
  • Polymorphism, Single Nucleotide*
  • Probability
  • Sweden
  • Tryptophan / metabolism
  • United Kingdom
  • United States


  • Adaptor Proteins, Signal Transducing
  • Antigens, Differentiation, T-Lymphocyte
  • CD226 antigen
  • CLEC16A protein, human
  • Lectins, C-Type
  • Monosaccharide Transport Proteins
  • SH2B1 protein, human
  • Tryptophan