Common NOD2/CARD15 variants are not associated with susceptibility or the clinicopathologic characteristics of sporadic colorectal cancer in Hungarian patients.
BACKGROUND
Epidemiological observations suggest that cancer arises from chronically inflamed tissues. Inflammatory bowel disease (IBD) is a typical example as patients with longstanding IBD are at an increased risk for developing colorectal cancer (CRC) and mutations of the NOD2/CARD15 gene increase the risk for Crohn's disease (CD). Recently, NOD2/CARD15 has been associated with a risk for CRC in some studies, which stemmed from ethnically diverse populations. Our aim was to identify common NOD2/CARD15 mutations in Hungarian patients with sporadic CRC.


METHODS
A total of 194 sporadic CRC patients (m/f: 108/86, age at diagnosis of CRC: 63.2 +/- 9.1 years old) and 200 healthy subjects were included. DNA was screened for SNP8, SNP12 and SNP13 NOD2/CARD15 mutations by denaturing-HPLC and confirmed by direct sequencing.


RESULTS
NOD2/CARD15 mutations were found in 28 patients (14.4%) and in 23 controls (11.5%, p = NS). Allele frequencies for SNP8/R702W (1.8% vs. 1.5%) SNP12/G908R (1.8% vs. 1.8%) and SNP13/3020insC (3.6% vs. 2.5%) were also not statistically different between patients and controls. The clinicopathologic characteristics of CRC patients with or without NOD2/CARD15 mutations were not significantly different.


CONCLUSIONS
Our results suggest that common NOD2/CARD15 mutations alone do not contribute to CRC risk in the Hungarian population.
Lakatos
Peter Laszlo
PL
1st Department of Medicine, Semmelweis University, Budapest, Hungary. kislakpet@yahoo.com
Hitre
Erika
E
Szalay
Ferenc
F
Zinober
Kerstin
K
Fuszek
Peter
P
Lakatos
Laszlo
L
Fischer
Simon
S
Osztovits
Janos
J
Gemela
Orsolya
O
Veres
Gabor
G
Papp
Janos
J
Ferenci
Peter
P
D000368:Aged; D015179:Colorectal Neoplasms / Q000235:genetics* / Q000473:pathology; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D006801:Humans; D006814:Hungary; D043183:Irritable Bowel Syndrome / Q000235:genetics; D008875:Middle Aged; D009154:Mutation; D009367:Neoplasm Staging; D053473:Nod2 Signaling Adaptor Protein / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D012016:Reference Values
C429018:NOD2 protein, human; D053473:Nod2 Signaling Adaptor Protein