Association of the MEFV gene variations with inflammatory bowel disease in Turkey.
BACKGROUND
Association of NOD2 (CARD15) gene mutations with inflammatory bowel diseases (IBD) is well known. We herein aimed to investigate the role of familial Mediterranean fever-associated MEFV variations in IBD patients as additional regional-specific risk factor.


METHODS
One hundred thirty-seven (78 female, 56.9%) IBD patients [62 Crohn's disease (CD), 75 ulcerative colitis (UC)] were enrolled into the study. The diagnosis of all patients was confirmed by colonoscopy, histopathology, and the clinical findings. One hundred one healthy donors' samples were used as healthy controls. All patients were genotyped for the most common E148Q, M608I, M694V, and V726A variations of the MEFV and R702W, G908R, and 1007fs of the NOD2.


RESULTS
The overall MEFV variation frequency was found to be higher in the IBD (25.5%) patients (28% in UC, 22.6% in CD) compared with controls (9.9%, P=0.006). This association was stronger with the penetrant exon 10 variations (M694V, M680I, V726A; odds ratio =4.5, P=0.001). Contribution of M694V was higher compared with the other variations (14.5% in CD, 17.3% in UC and 3% in controls, odds ratio =6.039, 95% confidence intervals, 1.7-20.7, P=0.002). The overall frequency of 3 NOD2 variants in the IBD group was not different from that of controls.


CONCLUSIONS
The results of this study suggest that the MEFV variations may be an additional susceptibility factor for IBD in certain parts of the world where the carrier rate is high, and the genetic background of the IBD patients may show regional changes.
Department of Internal Medicine, Division of Gastroenterohepatology, Istanbul University, Istanbul, Turkey.
Filiz
F
Akyuz
Fatih
F
Besisik
Duran
D
Ustek
Cumhur
C
Ekmekçi
Aytul
A
Uyar
Binnur
B
Pinarbasi
Kadir
K
Demir
Sadakat
S
Ozdil
Sabahattin
S
Kaymakoglu
Gungor
G
Boztas
Zeynel
Z
Mungan
Ahmet
A
Gul
D000293:Adolescent; D000328:Adult; D016022:Case-Control Studies; D003093:Colitis, Ulcerative / Q000235:genetics*; D003424:Crohn Disease / Q000235:genetics*; D003598:Cytoskeletal Proteins / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D000071198:Pyrin; D012307:Risk Factors; D014421:Turkey; D055815:Young Adult
D003598:Cytoskeletal Proteins; C000604192:MEFV protein, human; D000071198:Pyrin