title: Association between mutations in the CARD15/NOD2 gene and colorectal cancer in a Greek population.
abstract: Epidemiological observations suggest that cancer arises from chronically inflamed tissues. Inflammatory bowel disease (IBD) is a typical example since patients with longstanding IBD are at increased risk for development of colorectal cancer (CRC). Therefore, genetic factors predisposing to or implicated in the chronic inflammatory process in IBD may simultaneously predispose to CRC. Recently CARD15/NOD2 has been associated with IBD, which further strengthens the notion that the inflammatory response plays a crucial role in this disease. Several mutations have been identified in the CARD15/NOD2 gene, which appear with significantly higher frequency in patients with IBD. In this report, we have examined the frequency of the 3 major mutations R702W, G908R and 3020insC of the CARD2/NOD2 gene in a series of 104 consecutive Greek patients with sporadic colorectal cancer and 100 healthy individuals. The frequency of all the mutations was significantly elevated compared to the control population (R702W, OR=5.00, p=0.023; G908R, OR=2.78, p=0.025; 3020insC, OR=2.44, p=0.017). Patients with advanced stage tumors were more frequently carriers of at least 1 variant in the CARD15/NOD2 gene (p=0.009). Our results suggest that CARD2/NOD2 may be a genetic factor that predispose to sporadic colorectal cancer.
authors.affiliation: 1st Surgical Department, Laikon University Hospital, Athens, Greece.
authors.forename: Ioannis
authors.initials: I
authors.lastname: Papaconstantinou
authors.forename: George
authors.initials: G
authors.lastname: Theodoropoulos
authors.forename: Maria
authors.initials: M
authors.lastname: Gazouli
authors.forename: Dimitris
authors.initials: D
authors.lastname: Panoussopoulos
authors.forename: Gerassimos J
authors.initials: GJ
authors.lastname: Mantzaris
authors.forename: Evangelos
authors.initials: E
authors.lastname: Felekouras
authors.forename: John
authors.initials: J
authors.lastname: Bramis
mesh_terms: D000368:Aged; D016022:Case-Control Studies; D015179:Colorectal Neoplasms / Q000453:epidemiology / Q000209:etiology / Q000235:genetics*; D003424:Crohn Disease; D004252:DNA Mutational Analysis; D005260:Female; D020022:Genetic Predisposition to Disease; D006115:Greece / Q000453:epidemiology; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D053473:Nod2 Signaling Adaptor Protein; D016017:Odds Ratio; D012307:Risk Factors
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; C429018:NOD2 protein, human; D053473:Nod2 Signaling Adaptor Protein