Genética hereditária: pesquisas atuais

Abstrato

C.802C>T NOD2/CARD15 SNP is Associated to Crohn's Disease in Italian Patients

Scudiero O, Nigro E, Monaco ML, Polito R, Capasso M, Canani BR, Castaldo G and Daniele A

The incidence of Crohn’s Disease (CD), a complex inflammatory bowel disease, is rapidly increasing. NOD2/ CARD15 gene variants have been associated with early CD onset, terminal ileal involvement, and structuring disease. We comparatively analyzed, by PCR and direct sequencing, the exons 4, 8 and 11 of NOD2/CARD15 gene in CD Italian patients (n=42) and in healthy controls (n= 66). Our results show that the frequency of the allele T of the c.802C>T (p.P268S) SNP (rs2066842) results in linkage disequilibrium with allele T of the c.1377 C>T (p. R459R) SNP. Moreover, the frequency of the allele T of the c.802C>T (p.P268S) SNP (rs2066842) is significantly higher in CD’s patients than in control subjects (p=0.018; OR=2.02). Similarly, the frequency of the insertion c.3020insC (p.L1007fs) is significantly higher (p=0.0347; OR=14.59) in CD patients. Our results suggest that molecular analysis of the NOD2/CARD15 gene could represent a contributory tool for the identification of subjects genetically predisposed to CD.