Nod2/card15 mutations among bedouin arabs with inflammatory bowel disease: Frequency and phenotype correlation

Naim Abu Freha, Wafi Badarna, Muhammad Abu Tailakh, Heba Abu Kaf, Alex Fich, Doron Schwartz, Arik Segal, Jabir Elkrinawi, Amir Karban

Research output: Contribution to journalArticlepeer-review

3 Scopus citations


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 whom 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 CD than in UC 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 male, compared to 41.2% in non-carriers (P = 0.005). NOD2/ CARD15 mutation carriers with UC were older, 67.0 ± 24.5 years compared to 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.

Original languageEnglish
Pages (from-to)695-699
Number of pages5
JournalIsrael Medical Association Journal
Issue number11
StatePublished - 1 Nov 2018
Externally publishedYes


  • Bedouin Arab
  • Genetic predisposition
  • Inflammatory bowel disease (IBD)
  • NOD2/CARD15 gene mutation
  • Southern Israel

ASJC Scopus subject areas

  • Medicine (all)


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