Yolanda F M Tolentino1, Paula Peruzzi Elia1, Homero Soares Fogaça1, Antonio José V Carneiro1, Cyrla Zaltman1, Rodrigo Moura-Neto2,3, Ronir Raggio Luiz4, Maria da Gloria C Carvalho5, Heitor S de Souza6,7. 1. Serviço de Gastroenterologia, Departamento de Clínica Médica, Hospital Universitário Clementino Fraga Filho, Universidade Federal do Rio de Janeiro, Rio de Janeiro, 21941-913, Brazil. 2. Instituto de Biologia, Universidade Federal do Rio de Janeiro, Rio de Janeiro, 21941-590, Brazil. 3. Instituto Nacional de Metrologia, Qualidade e Tecnologia (INMETRO), Duque de Caxias, Rio de Janeiro, 25250-020, Brazil. 4. Instituto de Estudos de Saúde Coletiva (IESC), Universidade Federal do Rio de Janeiro, Rio de Janeiro, 21944-970, Brazil. 5. Laboratório de Patologia Molecular, Departamento de Patologia, Hospital Universitário Clementino Fraga Filho, Universidade Federal do Rio de Janeiro, Rio de Janeiro, 21941-913, Brazil. 6. Serviço de Gastroenterologia, Departamento de Clínica Médica, Hospital Universitário Clementino Fraga Filho, Universidade Federal do Rio de Janeiro, Rio de Janeiro, 21941-913, Brazil. hsouza@hucff.ufrj.br. 7. D'Or Institute for Research and Education (IDOR), Rua Diniz Cordeiro 30, Botafogo, Rio de Janeiro, RJ, 22281-100, Brazil. hsouza@hucff.ufrj.br.
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.
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 D299GTLR4 SNPs. Clinical data were registered for subsequent analysis with multivariate models. RESULTS:NOD2/CARD15G908R and L1007finsC SNPs were found in one and three patients, respectively, with CD. NOD2/CARD15G908R 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, TLR4T399I 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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