Open AccessC.802C>T NOD2/CARD15 SNP is Associated to CrohnâÂÂs Disease in Italian Patients
Author(s) -
Olga Scudiero,
Ersilia Nigro,
Monaco ML
Publication year - 2015
Publication title -
hereditary genetics
Language(s) - English
Resource type - Journals
ISSN - 2161-1041
DOI - 10.4172/2161-1041.s7-005
Subject(s) - nod2 , crohn's disease , snp , medicine , disease , biology , single nucleotide polymorphism , genetics , genotype , gene
The incidence of Crohn’s Disease (CD), a complex inflammatory bowel disease, is rapidly increasing. NOD2/\udCARD15 gene variants have been associated with early CD onset, terminal ileal involvement, and structuring disease. \udWe comparatively analyzed, by PCR and direct sequencing, the exons 4, 8 and 11 of NOD2/CARD15 gene in CD \udItalian patients (n=42) and in healthy controls (n= 66). Our results show that the frequency of the allele T of the \udc.802C>T (p.P268S) SNP (rs2066842) results in linkage disequilibrium with allele T of the c.1377 C>T (p. R459R) \udSNP. Moreover, the frequency of the allele T of the c.802C>T (p.P268S) SNP (rs2066842) is significantly higher \udin CD’s patients than in control subjects (p=0.018; OR=2.02). Similarly, the frequency of the insertion c.3020insC \ud(p.L1007fs) is significantly higher (p=0.0347; OR=14.59) in CD patients. Our results suggest that molecular analysis of \udthe NOD2/CARD15 gene could represent a contributory tool for the identification of subjects genetically predisposed \udto CD