Results

RDF/XMLNTriplesTurtleShow queryShare ▶
SubjectPredicateObject
http://purl.uniprot.org/citations/30430799http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/30430799http://www.w3.org/2000/01/rdf-schema#comment"

Background

Inflammatory bowel disease (IBD) prevalence is increasing among Bedouin Arabs in Israel. This population is known to have a high rate of consanguinity. NOD2/CARD15 mutations are well-studied in IBD.

Objectives

To investigate the frequency of NOD2/CARD15 mutations in IBD Bedouin patients and their relevance to disease phenotype.

Methods

The IBD-Arab cohort in southern Israel included 68 patients, of which 25 Crohn's disease (CD) patients and 25 ulcerative colitis (UC) patients consented to participate (72%). Blood samples were obtained from all participants who were genotyped for NOD2/CARD15 variants Arg702Trp, Gly908Arg, and Leu1007fsinsC.

Results

The NOD2/CARD15 mutation frequency was higher in Crohn's disease than in ulcerative colitis patients. Carrier frequency for the Gly908Arg mutation in CD and UC patients was 8/25 (32%) and 3/25 (12%), respectively (P = 0.08). Neither the Arg702Trp nor Leu1007fsinsC mutation was found in our cohort. No homozygous/compound heterozygote mutations were found. Genotype-phenotype analysis revealed that CD patients carrying the Gly908Arg mutation were younger at diagnosis, 22.8 ± 4.5 vs. 28.82 ± 9.1 years (P = 0.04). All carriers were males, compared with 41.2% in non-carriers (P = 0.005). NOD2/CARD15 mutation carriers with UC were older, 67.0 ± 24.5 years compared with 41.2 ± 12.3 years (P = 0.006). No other associations regarding disease localization or other clinical parameter were found.

Conclusions

The frequency of NOD2/CARD15 gene mutations is high in CD and UC among Bedouin Arab IBD patients and is associated with younger age at onset in CD and male gender."xsd:string
http://purl.uniprot.org/citations/30430799http://purl.uniprot.org/core/author"Schwartz D."xsd:string
http://purl.uniprot.org/citations/30430799http://purl.uniprot.org/core/author"Segal A."xsd:string
http://purl.uniprot.org/citations/30430799http://purl.uniprot.org/core/author"Karban A."xsd:string
http://purl.uniprot.org/citations/30430799http://purl.uniprot.org/core/author"Fich A."xsd:string
http://purl.uniprot.org/citations/30430799http://purl.uniprot.org/core/author"Abu Freha N."xsd:string
http://purl.uniprot.org/citations/30430799http://purl.uniprot.org/core/author"Abu Kaf H."xsd:string
http://purl.uniprot.org/citations/30430799http://purl.uniprot.org/core/author"Abu Tailakh M."xsd:string
http://purl.uniprot.org/citations/30430799http://purl.uniprot.org/core/author"Badarna W."xsd:string
http://purl.uniprot.org/citations/30430799http://purl.uniprot.org/core/author"Elkrinawi J."xsd:string
http://purl.uniprot.org/citations/30430799http://purl.uniprot.org/core/date"2018"xsd:gYear
http://purl.uniprot.org/citations/30430799http://purl.uniprot.org/core/name"Isr Med Assoc J"xsd:string
http://purl.uniprot.org/citations/30430799http://purl.uniprot.org/core/pages"695-699"xsd:string
http://purl.uniprot.org/citations/30430799http://purl.uniprot.org/core/title"NOD2/CARD15 Mutations among Bedouin Arabs with Inflammatory Bowel Disease: Frequency and Phenotype Correlation."xsd:string
http://purl.uniprot.org/citations/30430799http://purl.uniprot.org/core/volume"20"xsd:string
http://purl.uniprot.org/citations/30430799http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/30430799
http://purl.uniprot.org/citations/30430799http://xmlns.com/foaf/0.1/primaryTopicOfhttps://pubmed.ncbi.nlm.nih.gov/30430799
http://purl.uniprot.org/uniprot/#_D9N2T7-mappedCitation-30430799http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/30430799
http://purl.uniprot.org/uniprot/#_A3FA72-mappedCitation-30430799http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/30430799
http://purl.uniprot.org/uniprot/#_A0A286YF65-mappedCitation-30430799http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/30430799
http://purl.uniprot.org/uniprot/#_A0A3S6A229-mappedCitation-30430799http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/30430799
http://purl.uniprot.org/uniprot/#_A0A386TXE7-mappedCitation-30430799http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/30430799
http://purl.uniprot.org/uniprot/#_B5B2Z5-mappedCitation-30430799http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/30430799
http://purl.uniprot.org/uniprot/#_B5B2Z6-mappedCitation-30430799http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/30430799
▶