TY - JOUR
T1 - Nod2/card15 mutations among bedouin arabs with inflammatory bowel disease
T2 - Frequency and phenotype correlation
AU - Freha, Naim Abu
AU - Badarna, Wafi
AU - Tailakh, Muhammad Abu
AU - Kaf, Heba Abu
AU - Fich, Alex
AU - Schwartz, Doron
AU - Segal, Arik
AU - Elkrinawi, Jabir
AU - Karban, Amir
N1 - Publisher Copyright:
© 2018, Israel Medical Association. All rights reserved.
PY - 2018/11/1
Y1 - 2018/11/1
N2 - 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.
AB - 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.
KW - Bedouin Arab
KW - Genetic predisposition
KW - Inflammatory bowel disease (IBD)
KW - NOD2/CARD15 gene mutation
KW - Southern Israel
UR - http://www.scopus.com/inward/record.url?scp=85056658339&partnerID=8YFLogxK
M3 - Article
C2 - 30430799
AN - SCOPUS:85056658339
SN - 1565-1088
VL - 20
SP - 695
EP - 699
JO - Israel Medical Association Journal
JF - Israel Medical Association Journal
IS - 11
ER -