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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 |
2002-12-20
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pubmed:abstractText |
Recent reports indicate that allelic variants in NOD2/CARD15 are associated with Crohn's disease (CD) susceptibility, and that homozygosity or compound heterozygosity at this locus for any of three recently defined sequence variants confers a greatly increased risk of CD. These sequence changes include two missense mutations, R702W and G908R, and a frameshift insertion, 1007insC. The aim of this study was to determine the frequency of these NOD2/CARD15 variants in familial and sporadic CD patients in the Ashkenazi population and to determine their effects on disease susceptibility and age of disease onset (AOO).
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pubmed:grant |
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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 |
0002-9270
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
97
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
3095-101
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pubmed:dateRevised |
2008-11-21
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pubmed:meshHeading |
pubmed-meshheading:12492195-Age of Onset,
pubmed-meshheading:12492195-Alleles,
pubmed-meshheading:12492195-Base Sequence,
pubmed-meshheading:12492195-Carrier Proteins,
pubmed-meshheading:12492195-Crohn Disease,
pubmed-meshheading:12492195-Gene Frequency,
pubmed-meshheading:12492195-Genetic Predisposition to Disease,
pubmed-meshheading:12492195-Genetic Variation,
pubmed-meshheading:12492195-Genotype,
pubmed-meshheading:12492195-Heterozygote,
pubmed-meshheading:12492195-Homozygote,
pubmed-meshheading:12492195-Humans,
pubmed-meshheading:12492195-Intracellular Signaling Peptides and Proteins,
pubmed-meshheading:12492195-Jews,
pubmed-meshheading:12492195-Molecular Sequence Data,
pubmed-meshheading:12492195-Mutation,
pubmed-meshheading:12492195-Nod2 Signaling Adaptor Protein,
pubmed-meshheading:12492195-Penetrance
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pubmed:year |
2002
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pubmed:articleTitle |
Variation at NOD2/CARD15 in familial and sporadic cases of Crohn's disease in the Ashkenazi Jewish population.
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pubmed:affiliation |
Division of Molecular Medicine, Department of Medicine, North Shore University Hospital/New York University School of Medicine, Manhasset 11030, USA.
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Research Support, Non-U.S. Gov't
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