TY - JOUR
TI - Association of NOD/CARD15 variants with Crohn's disease in a Greek
population
AU - Gazouli, M
AU - Zacharatos, P
AU - Mantzaris, GJ
AU - Barbatis, C and
AU - Ikonomopoulos, L
AU - Archimandritis, AJ
AU - Lukas, JC
AU - Papalambros, E
AU - and Gorgoulis, V
JO - European Journal of Gastroenterology and Hepatology
PY - 2004
VL - 16
TODO - 11
SP - 1177-1182
PB - Lippincott, Williams & Wilkins
SN - 0954-691X, 1473-5687
TODO - 10.1097/00042737-200411000-00016
TODO - Crohn’s disease; L1 007fsinsC; R702W; G908R; NOD2 gene
TODO - Objective Single nucleotide polymorphisms in the NOD2/ CARD15 gene have
recently been shown to be associated with Crohn’s disease (CD), but
whether this susceptibility extends to all ethnic groups and geographic
areas remains unknown. The aim of the present study was to evaluate the
NOD2/CARD15 mutations in Greek patients with CD.
Methods Individuals were genotyped for three NOD2/ CARD15 mutations:
R702W, G908R and L1007fsinsC. Blood samples were obtained from 120
patients with CD, 85 patients with ulcerative colitis, and 100 unrelated
healthy controls.
Results Mutations in NOD2/CARD15 were observed with significantly
greater frequency in CD patients (98/120, 81.7%) than in ulcerative
colitis patients (40/85, 47%) (P < 0.0001) or in healthy individuals
(21/100, 21 %) (P < 0.0001). For CD patients, compared with controls,
the odds were increased for carriage of the R702W (odds ratio, 12.25)
and less for the G908R (odds ratio, 5.2) and Ll007fsinsC (odds ratio,
3.9) mutations. The age of onset of CD was lower in Greek mutation
carriers as compared with non-carriers of Greek origin (28.2 +/- 14.6
years versus 34 +/- 12.3 years, respectively; P = 0.036). Additionally,
the frequency of NOD2/CARD15 mutations was increased in ileitis or
ileocolitis compared with non-ileal disease.
Conclusions The NOD2/CARD15 mutations are risk factors for CD in Greece,
they appear to predict an earlier age of onset and are associated
particularly with ileitis or ileocolitis. (C) 2004 Lippincott Williams
Wilkins.
ER -