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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
12
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pubmed:dateCreated |
2005-11-29
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pubmed:databankReference |
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pubmed:abstractText |
Celiac disease is probably the best-understood immune-related disorder. The disease presents in the small intestine and results from the interplay between multiple genes and gluten, the triggering environmental factor. Although HLA class II genes explain 40% of the heritable risk, non-HLA genes accounting for most of the familial clustering have not yet been identified. Here we report significant and replicable association (P = 2.1 x 10(-6)) to a common variant located in intron 28 of the gene myosin IXB (MYO9B), which encodes an unconventional myosin molecule that has a role in actin remodeling of epithelial enterocytes. Individuals homozygous with respect to the at-risk allele have a 2.3-times higher risk of celiac disease (P = 1.55 x 10(-5)). This result is suggestive of a primary impairment of the intestinal barrier in the etiology of celiac disease, which may explain why immunogenic gluten peptides are able to pass through the epithelial barrier.
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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 |
Dec
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pubmed:issn |
1061-4036
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pubmed:author |
pubmed-author:AlizadehBehrooz ZBZ,
pubmed-author:BevovaMarianna RMR,
pubmed-author:DalyMark JMJ,
pubmed-author:DiosdadoBegoñaB,
pubmed-author:FrankeLudeL,
pubmed-author:KoelemanBobby P CBP,
pubmed-author:LavrijsenIneke C MIC,
pubmed-author:MearinM LuisaML,
pubmed-author:MeijerGerrit AGA,
pubmed-author:MeijerJos W RJW,
pubmed-author:MonsuurAlienke JAJ,
pubmed-author:MulderChris J JCJ,
pubmed-author:StrengmanEricE,
pubmed-author:WapenaarMartin CMC,
pubmed-author:WijmengaCiscaC,
pubmed-author:ZhernakovaAlexandraA,
pubmed-author:de BakkerPaul I WPI,
pubmed-author:van't SlotRubenR,
pubmed-author:van BelzenMartine JMJ,
pubmed-author:van OortEricaE
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pubmed:issnType |
Print
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pubmed:volume |
37
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1341-4
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pubmed:dateRevised |
2009-11-19
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pubmed:meshHeading |
pubmed-meshheading:16282976-Amino Acid Sequence,
pubmed-meshheading:16282976-Celiac Disease,
pubmed-meshheading:16282976-Female,
pubmed-meshheading:16282976-Genetic Predisposition to Disease,
pubmed-meshheading:16282976-Haplotypes,
pubmed-meshheading:16282976-Humans,
pubmed-meshheading:16282976-Intestine, Small,
pubmed-meshheading:16282976-Introns,
pubmed-meshheading:16282976-Male,
pubmed-meshheading:16282976-Molecular Sequence Data,
pubmed-meshheading:16282976-Myosins,
pubmed-meshheading:16282976-Polymorphism, Single Nucleotide
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pubmed:year |
2005
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pubmed:articleTitle |
Myosin IXB variant increases the risk of celiac disease and points toward a primary intestinal barrier defect.
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pubmed:affiliation |
Complex Genetics Section, DBG-Department of Medical Genetics, University Medical Center Utrecht, Universiteitsweg 100, 3584 CG Utrecht, the Netherlands.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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