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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
1-2
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pubmed:dateCreated |
2010-4-12
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pubmed:abstractText |
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.
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pubmed:grant |
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/20116863-10206617,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20116863-10401775,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20116863-16699517,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20116863-17444504,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20116863-17701901,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20116863-17984305,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20116863-18927125,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20116863-18987646,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20116863-19092835,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20116863-19119414,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20116863-19264985,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20116863-19324880,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20116863-2301364,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20116863-6685237,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20116863-7638210
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Apr
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pubmed:issn |
1872-8421
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pubmed:author |
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pubmed:copyrightInfo |
Copyright 2010 Elsevier B.V. All rights reserved.
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pubmed:issnType |
Electronic
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pubmed:day |
15
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pubmed:volume |
221
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
112-4
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pubmed:dateRevised |
2011-9-26
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pubmed:meshHeading |
pubmed-meshheading:20116863-DEAD-box RNA Helicases,
pubmed-meshheading:20116863-Disability Evaluation,
pubmed-meshheading:20116863-Gene Frequency,
pubmed-meshheading:20116863-Genome-Wide Association Study,
pubmed-meshheading:20116863-Genotype,
pubmed-meshheading:20116863-Great Britain,
pubmed-meshheading:20116863-Humans,
pubmed-meshheading:20116863-International Cooperation,
pubmed-meshheading:20116863-Italy,
pubmed-meshheading:20116863-Multiple Sclerosis,
pubmed-meshheading:20116863-Odds Ratio,
pubmed-meshheading:20116863-Polymorphism, Single Nucleotide
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pubmed:year |
2010
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pubmed:articleTitle |
No evidence of association of the rare nsSNP rs35667974 in IFIH1 with multiple sclerosis.
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pubmed:affiliation |
Department of Medical Sciences, Interdisciplinary Research Center of Autoimmune Diseases (IRCAD), University of Eastern Piedmont, Novara, Italy. laura.bergamaschi@med.unipmn.it
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't,
Research Support, N.I.H., Extramural
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