title: No evidence of association of the rare nsSNP rs35667974 in IFIH1 with multiple sclerosis.
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.
authors.affiliation: Department of Medical Sciences, Interdisciplinary Research Center of Autoimmune Diseases (IRCAD), University of Eastern Piedmont, Novara, Italy. laura.bergamaschi@med.unipmn.it
authors.forename: Laura
authors.initials: L
authors.lastname: Bergamaschi
authors.forename: Maria
authors.initials: M
authors.lastname: Ban
authors.forename: Maurizio A
authors.initials: MA
authors.lastname: Leone
authors.forename: Stephen J
authors.initials: SJ
authors.lastname: Sawcer
authors.forename: Sandra
authors.initials: S
authors.lastname: D'Alfonso
mesh_terms: D053487:DEAD-box RNA Helicases / Q000235:genetics*; D004185:Disability Evaluation; D005787:Gene Frequency; D055106:Genome-Wide Association Study / Q000379:methods; D005838:Genotype; D006801:Humans; D000072640:Interferon-Induced Helicase, IFIH1; D007391:International Cooperation; D007558:Italy; D009103:Multiple Sclerosis / Q000235:genetics*; D016017:Odds Ratio; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D006113:United Kingdom
chemical_list: C452815:IFIH1 protein, human; D053487:DEAD-box RNA Helicases; D000072640:Interferon-Induced Helicase, IFIH1