Literature DB >> 15289769

NOD2/CARD15 mutation analysis and genotype-phenotype correlation in Jewish pediatric patients compared with adults with Crohn's disease.

Batia Weiss1, Raanan Shamir, Yoram Bujanover, Mati Waterman, Corina Hartman, Akiva Fradkin, Drora Berkowitz, Ilana Weintraub, Ram Eliakim, Amir Karban.   

Abstract

OBJECTIVES: The allelic variants in the NOD2/CARD15 gene G908R, R702W, and 1007fs are strongly and independently associated with susceptibility to Crohn's disease (CD). Our aim was to compare the NOD2/CARD15 genotype and the genotype-phenotype correlation in Jewish pediatric patients with CD (</=16 years of age) with older patients with CD. STUDY
DESIGN: Carrier frequencies of the three variants were determined in 67 children and 144 adults with CD. Variants were detected by using allele-specific polymerase chain reaction and restriction enzyme digestion assay. Demographic and phenotypic characterizations of the patients were determined.
RESULTS: The carrier rate of the three NOD2/CARD15-associated variants was 51.5% in children and 37.5% in adults (P=.07). The most prevalent allele variant was G908R (allele frequency 18% in children, 11% in adults; P=.063). Young Ashkenazi patients had the highest allele frequency of G908R, and higher than Ashkenazi adults: 25% and 9%, respectively (P=.003). Children had more family history of inflammatory bowel disease and more inflammatory-type disease, with no relation to variant allele carriage.
CONCLUSIONS: G908R allele-variant of the NOD2/CARD15 gene is closely related with the appearance of CD at a young age in Jewish Ashkenazi patients.

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Year:  2004        PMID: 15289769     DOI: 10.1016/j.jpeds.2004.05.024

Source DB:  PubMed          Journal:  J Pediatr        ISSN: 0022-3476            Impact factor:   4.406


  16 in total

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Review 2.  [Molecular therapy in gastroenterology and hepatology].

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3.  1007fs, G908R, R702W mutations and P268S, IVS8+158 polymorphisms of the CARD15 gene in Turkish inflammatory bowel disease patients and their relationship with disease-related surgery.

Authors:  Ali Tüzün Ince; Ozden Hatirnaz; Oya Ovünç; Uğur Ozbek
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4.  The risk of developing Crohn's disease after an appendectomy: a population-based cohort study in Sweden and Denmark.

Authors:  Gilaad G Kaplan; Bo V Pedersen; Roland E Andersson; Bruce E Sands; Joshua Korzenik; Morten Frisch
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Review 5.  Evolving paradigms in the pathogenesis of IBD.

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Journal:  J Gastroenterol       Date:  2009-12-04       Impact factor: 7.527

6.  NOD2/CARD15, ATG16L1 and IL23R gene polymorphisms and childhood-onset of Crohn's disease.

Authors:  Maria Gazouli; Ioanna Pachoula; Ioanna Panayotou; Gerassimos Mantzaris; George Chrousos; Nicholas P Anagnou; Eleftheria Roma-Giannikou
Journal:  World J Gastroenterol       Date:  2010-04-14       Impact factor: 5.742

Review 7.  NOD2: ethnic and geographic differences.

Authors:  Juleen Cavanaugh
Journal:  World J Gastroenterol       Date:  2006-06-21       Impact factor: 5.742

Review 8.  Special issues in pediatric inflammatory bowel disease.

Authors:  Marla Dubinsky
Journal:  World J Gastroenterol       Date:  2008-01-21       Impact factor: 5.742

9.  Role of CARD15, DLG5 and OCTN genes polymorphisms in children with inflammatory bowel diseases.

Authors:  S Cucchiara; A Latiano; O Palmieri; A M Staiano; R D'Incà; G Guariso; G Vieni; V Rutigliano; O Borrelli; M R Valvano; V Annese
Journal:  World J Gastroenterol       Date:  2007-02-28       Impact factor: 5.742

10.  Response to medical treatment in patients with Crohn's disease: the role of NOD2/CRAD15, disease phenotype, and age of diagnosis.

Authors:  B Weiss; O Lebowitz; H H Fidder; I Maza; A Levine; R Shaoul; S Reif; Y Bujanover; A Karban
Journal:  Dig Dis Sci       Date:  2009-08-20       Impact factor: 3.199

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