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

Yolanda F M Tolentino1, Paula Peruzzi Elia1, Homero Soares Fogaça1

  • 1Serviço de Gastroenterologia, Departamento de Clínica Médica, Hospital Universitário Clementino Fraga Filho, Universidade Federal do Rio de Janeiro, Rio de Janeiro, 21941-913, Brazil.

Digestive Diseases and Sciences
|April 25, 2016
PubMed

Insights

Genetic variants in NOD2/CARD15 and TLR4 are not linked to inflammatory bowel disease (IBD) susceptibility in a Brazilian population. However, these variants may influence Crohn's disease (CD) phenotypes.

Area of Science:

  • Genetics
  • Immunology
  • Gastroenterology

Background:

  • Inflammatory bowel disease (IBD), encompassing Crohn's disease (CD) and ulcerative colitis (UC), is increasing in Brazil.
  • Genetic factors, including NOD2/CARD15 and TLR4 variants, are implicated in IBD pathogenesis.
  • Investigating these genetic associations in admixed populations is crucial for understanding disease heterogeneity.

Purpose of the Study:

  • To determine if NOD2/CARD15 and TLR4 gene variants are associated with CD and UC in a genetically admixed population in Rio de Janeiro.
  • To explore potential genotype-phenotype correlations within CD and UC patient cohorts.

Main Methods:

  • A case-control study involving 67 CD patients, 61 UC patients, and 86 healthy controls.
  • DNA extraction from buccal samples followed by PCR genotyping for specific NOD2/CARD15 (G908R, L1007finsC) and TLR4 (T399I, D299G) single-nucleotide polymorphisms (SNPs).
  • Clinical data analysis using multivariate models to identify genotype-phenotype associations.

Main Results:

  • No significant association was found between the investigated NOD2/CARD15 and TLR4 SNPs and the susceptibility to CD or UC.
  • NOD2/CARD15 variants were infrequent in CD and absent in UC patients.
  • TLR4 SNPs did not show significant differences among groups, but T399I was linked to male gender, and D299G to colonic involvement, corticosteroid use, and anti-TNF-alpha therapy in CD patients.

Conclusions:

  • Variants in NOD2/CARD15 and TLR4 do not appear to confer susceptibility to IBD in this Brazilian population.
  • These genetic variants may play a role in determining specific Crohn's disease phenotypes, such as colonic localization and treatment response.
Abstract

Keywords:
Crohn’s diseaseInflammatory bowel diseaseNOD2/CARD15 geneSingle-nucleotide polymorphismsToll-like receptor 4 gene

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