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No evidence of association of the rare nsSNP rs35667974 in IFIH1 with multiple sclerosis

  • Laura Bergamaschi
  • , Maria Ban
  • , Maurizio A. Leone
  • , Stephen J. Sawcer
  • , Sandra D'Alfonso

Research output: Contribution to journalArticlepeer-review

Abstract

Studies suggest that different autoimmune diseases share a common genetic background, in particular, an overlap between Multiple Sclerosis (MS) and type 1 diabetes (T1D) susceptibility loci has been established. A recent study found that four rare SNPs in the IFIH1 (interferon induced with helicase C domain 1) were significantly associated with T1D.To establish if these SNPs were also involved in MS susceptibility, we chose to examine the non-synonymous SNP rs35667974/Ile923Val which displayed the strongest effect in T1D and was also shown to lead to a loss of IFIH1 function in an in vitro study. We have performed the first association study to test if this rare variant is involved in MS susceptibility in a very large sample consisting of 3037 MS patients and 10,657 healthy controls recruited from Italy and the UK. This study has 99% power to demonstrate an association at the 5% level with this rare variant. Our analysis shows that the nsSNP rs35667974/Ile923Val does not have a role in susceptibility to MS.

Original languageEnglish
Pages (from-to)112-114
Number of pages3
JournalJournal of Neuroimmunology
Volume221
Issue number1-2
DOIs
Publication statusPublished - Apr 2010

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

  1. SDG 3 - Good Health and Well-being
    SDG 3 Good Health and Well-being

Keywords

  • Genetics
  • IFIH1
  • Multiple Sclerosis

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