Citation: Scudiero O, Nigro E, Monaco ML, Polito R, Capasso M, et al. (2015) C.802C>T NOD2/CARD15 SNP is Associated to Crohn’s Disease in
Italian Patients. Genetics S7: 005. doi:10.4172/2161-1041.S7-005
Page 3 of 3
Hereditary Genetics ISSN:2161-1041 Genetics an open access journal Genetic Diseases
3020insC (p.L1007fs) [16,17]. ese polymorphisms alter the structure
of the protein at the level of the LRR domain or the adjacent regions,
interfering with bacteria recognition and increasing the production of
IL-12, IL13, IL23 and IFN- pro-inammatory cytokines leading to a
state of chronic inammation . In presence of one NOD2/CARD15
allele mutation, the risk of developing CD increases to 2-4 times, and
even up to 20-40 in the case of a double mutation (heterozygous or
homozygous) [14,15]. e present study conrms that molecular
analysis of NOD2/CARD15 gene could represent an eective
diagnostic tool for the identication of subject genetically predisposed
to CD. In fact, our ndings revealed a signicant association between
the allele T of c.802C>T (p.P268S) SNP and CD. Moreover, our data
show linkage disequilibrium of c.802C>T (p.P268S) with c.1377 C>T
(p.R459R). In addition, we found that the variant 3020insC (p.L1007fs)
is signicantly associated with CD susceptibility. Our results are in
agreement with recent data reporting a genetic association between
allele T of c.802C>T (p.P268S) and CD in Chinese patients [6,10]
In conclusion, our results suggest that molecular analysis of the
NOD2/CARD15 gene could represent an indicative diagnostic tool for
the identication of subject genetically predisposed to CD.
Grants from Regione Campania (DGRC 1901/09 and POR, FSE 2007-13,
project CREME) are gratefully acknowledged.
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This article was originally published in a special issue, Genetic Diseases
handled by Editor(s). Dr. Steven J. Fliesler, Buffalo VA Medical Center, USA;
Dr. Jijing Pang, University of Florida, USA
Citation: Scudiero O, Nigro E, Monaco ML, Polito R, Capasso M, et al. (2015)
C.802C>T NOD2/CARD15 SNP is Associated to Crohn’s Disease in Italian
Patients. Genetics S7: 005. doi:10.4172/2161-1041.S7-005
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