Inflammatory Bowel Diseases · 2008 · 29 citations · 33 references
Life SciencesGeneticsImmunologyImmunogeneticsInnate ImmunityMedical GeneticsCytokine Gene PolymorphismGastrointestinal ImmunologyGastrointestinal InflammationInflammatory Bowel DiseaseInnate Immune Gene PolymorphismsInnate Immune ResponseCytokine Receptor PolymorphismsImmune Gene PolymorphismImmune Response Gene Polymorphism AnalysisImmune Response Gene VariantsInflammatory Bowel Disease GeneticsInflammatory Bowel Disease PathogenesisInflammatory Gene PolymorphismsInnate Immunity Gene Variants
BACKGROUND: Polymorphisms in genes linked to the innate and adaptive immune response may be involved in inflammatory bowel disease pathogenesis. Our aim was to investigate associations among IL1B-511, IL1B-31, IL1RN, TNFA-307, TLR-2, TLR-4, IL2-330, NOD2 G908R, NOD2 L1007fsinsC polymorphisms and both Crohn's disease (CD) and ulcerative colitis (UC) in a Brazilian population. METHODS: We studied 43 patients with CD, 42 with UC, and 541 blood donors. Polymorphisms were evaluated by PCR, PCR-CTPP, or PCR-RFLP. Data were analyzed in multivariate models adjusting for confounding factors. RESULTS: IL1RN VNTR (P = 0.00, odds ratio [OR] = 2.43, 95% confidence interval [CI] = 1.50-3.90), as well as TNFA-307 polymorphic allele (P = 0.05, OR = 1.70, 95% CI = 1.00-2.94) were associated with UC. Both NOD2 mutations (G908R, P = 0.02, OR = 6.83, 95% CI = 1.62-25.45, and L1007fsinsC, P = 0.00, OR = 20.00, 95% CI = 3.21-124.69) were associated with CD. CONCLUSIONS: Our analyses showed positive associations between proinflammatory polymorphisms at IL1RN and TNFA-307 loci and UC, as well as polymorphisms in the NOD2 gene and CD. These results highlight the importance of different genetic profiles associated with CD and UC.
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Color and genomic ancestry in Brazilians
Flavia C Parra, R Amado, José Roberto Lambertucci et al. · Proceedings of the National Academy of Sciences · 2002 · 983 citations