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Published in: Digestive Diseases and Sciences 9/2016

01-09-2016 | Original Article

Common NOD2/CARD15 and TLR4 Polymorphisms Are Associated with Crohn’s Disease Phenotypes in Southeastern Brazilians

Authors: Yolanda F. M. Tolentino, Paula Peruzzi Elia, Homero Soares Fogaça, Antonio José V. Carneiro, Cyrla Zaltman, Rodrigo Moura-Neto, Ronir Raggio Luiz, Maria da Gloria C. Carvalho, Heitor S. de Souza

Published in: Digestive Diseases and Sciences | Issue 9/2016

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Abstract

Aim

To investigate whether variants in NOD2/CARD15 and TLR4 are associated with CD and ulcerative colitis (UC) in a genetically admixed population of Rio de Janeiro, where IBD has continued to rise.

Methods

We recruited 67 consecutive patients with CD, 61 patients with UC, and 86 healthy and ethnically matched individuals as controls. DNA was extracted from buccal brush samples and genotyped by PCR with restriction enzymes for G908R and L1007finsC NOD2/CARD15 single-nucleotide polymorphisms (SNPs) and for T399I and D299G TLR4 SNPs. Clinical data were registered for subsequent analysis with multivariate models.

Results

NOD2/CARD15 G908R and L1007finsC SNPs were found in one and three patients, respectively, with CD. NOD2/CARD15 G908R and L1007finsC SNPs were not found in any patients with UC, but were found in three and three controls, respectively. With regard to the TLR4 gene, no significant difference was detected among the groups. Overall, none of the SNPs investigated determined a differential risk for a specific diagnosis. Genotype–phenotype associations were found in only CD, where L1007finsC was associated with colonic localization; however, TLR4 T399I SNP was associated with male gender, and D299G SNP was associated with colonic involvement, chronic corticosteroid use, and the need for anti-TNF-alpha therapy.

Conclusion

Variants of NOD2/CARD15 and TLR4 do not confer susceptibility to IBD, but appear to determine CD phenotypes in this southeastern Brazilian population.
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Metadata
Title
Common NOD2/CARD15 and TLR4 Polymorphisms Are Associated with Crohn’s Disease Phenotypes in Southeastern Brazilians
Authors
Yolanda F. M. Tolentino
Paula Peruzzi Elia
Homero Soares Fogaça
Antonio José V. Carneiro
Cyrla Zaltman
Rodrigo Moura-Neto
Ronir Raggio Luiz
Maria da Gloria C. Carvalho
Heitor S. de Souza
Publication date
01-09-2016
Publisher
Springer US
Published in
Digestive Diseases and Sciences / Issue 9/2016
Print ISSN: 0163-2116
Electronic ISSN: 1573-2568
DOI
https://doi.org/10.1007/s10620-016-4172-8

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