Literature DB >> 20116863

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

Laura Bergamaschi1, Maria Ban, Maurizio A Leone, Stephen J Sawcer, Sandra D'Alfonso.   

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. Copyright 2010 Elsevier B.V. All rights reserved.

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Year:  2010        PMID: 20116863      PMCID: PMC2854891          DOI: 10.1016/j.jneuroim.2010.01.005

Source DB:  PubMed          Journal:  J Neuroimmunol        ISSN: 0165-5728            Impact factor:   3.478


  15 in total

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