Frequency of three common mutations of CARD15/NOD2 gene in Iranian IBD patients.
BACKGROUND
The CARD15/NOD2 gene, located on the pericentromeric region of chromosome 16 (IBD1) has been reported to have an association with IBD, especially Crohn's disease. Three common mutations of CARD15 are variably associated with Crohn's disease in different ethnic groups. We evaluated the frequency of these mutations (R702W, G908R and 1007fsinsC) in Iranian IBD patients and compared it with the healthy control population.


METHODS
One hundred patients with ulcerative colitis, 40 patients with Crohn's disease, and 100 sex- and age-matched controls were enrolled from a tertiary center during a one-year period (2005-2006). The three mutations were assessed in DNA of leukocytes by polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP).


RESULTS
The frequency of R702W mutation was significantly higher in Iranian patients with Crohn's disease (p< 0.001; OR 19.21; 95% CI 4.23-87.32) compared to healthy controls. No association was observed between the other mutations and Crohn's disease and none of these mutations was associated with ulcerative colitis.


CONCLUSIONS
The R702W mutation of CARD15 gene was associated with Crohn's disease in the Iranian population.
Research Center for Gastroenterology and Liver Disease, Shaheed Beheshti University of Medical Sciences, Tehran, Iran.
Faramarz
F
Derakhshan
Nosratollah
N
Naderi
Alma
A
Farnood
Farzad
F
Firouzi
Manijeh
M
Habibi
Mohammad Reza
MR
Rezvany
Arash
A
Javeri
Ali
A
Bahari
Hedieh
H
Balaii
Mahta Ghaffarzadeh
MG
Rad
Rahim
R
Aghazadeh
Mohammad Reza
MR
Zali
D000328:Adult; D003093:Colitis, Ulcerative / Q000235:genetics; D003424:Crohn Disease / Q000235:genetics; D005260:Female; D006801:Humans; D015212:Inflammatory Bowel Diseases / Q000235:genetics*; D007492:Iran; D008297:Male; D009154:Mutation; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length