The expanding genetic overlap between multiple sclerosis and type I diabetes

David R. Booth, Robert N. Heard, Graeme J. Stewart, An Goris, Rita Dobosi, Bénédicte Dubois, Åslaug R. Lorentzen, Elisabeth G. Celius, Hanne F. Harbo, Anne Spurkland, Tomas Olsson, Ingrid Kockum, Jenny Link, Jan Hillert, Maria Ban, Amie Baker, Stephen Sawcer, Alastair Compston, Tania Mihalova, Richard StrangeClive Hawkins, Gillian Ingram, Neil P. Robertson, Philip L. De Jager, David A. Hafler, Lisa F. Barcellos, Adrian J. Ivinson, Margaret Pericak-Vance, Jorge R. Oksenberg, Stephen L. Hauser, Jacob L. McCauley, David Sexton, Jonathan Haines

Research output: Contribution to journalArticlepeer-review

131 Scopus citations


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 10296 unrelated controls. Two of these seven SNPs showed evidence of association with multiple sclerosis; that is rs12708716 from the CLEC16A gene (P = 1.6 × 10-16) and rs763361 from the CD226 gene (P = 5.4 × 10-8). These findings thereby identify two additional multiple sclerosis susceptibility genes and lend support to the notion of autoimmune susceptibility genes.

Original languageEnglish (US)
Pages (from-to)11-14
Number of pages4
JournalGenes and Immunity
Issue number1
StatePublished - 2009

ASJC Scopus subject areas

  • Immunology
  • Genetics
  • Genetics(clinical)


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