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Study of single nucleotide polymorphisms in candidate genes for Crohn's disease
Dušátková, Petra
Mgr. Petra Dušátková, Studium jednonukleotidových polymorfizmů v kandidátních genech pro Crohnovu chorobu Abstract Crohn's disease (CD) is ranked among inflammatory bowel diseases. The etiology of the disease is not completely understood yet. However, it is assumed that genetic predispositions may play important role in the etiology of CD. This work is a part of a project studying causality of single nucleotide polymorhisms within candidate genes for CD in the Czech population. We tested in total 333 patients with CD and 499 healthy subjects for SNPs: c.3020insC, p.Gly908Arg, p.Arg702Trp within the gene CARD15, g.-308G>A within the gene TNFA, p.Arg381Gln within the gene IL23R a p.Ala197Thr within the gene ATG16L1. For determination of the genotypes we used alellic discrimination in TaqMan sonds format. Variants c.3020insC, p.908Arg within the gene CARD15 were significantly associated with CD (OR = 4,4; 95%CI 3,0 - 6,4, OR = 2,7; 95%CI 1,4 - 5,0, respectively). SNP p.702Trp was associated with CD after adjustation for other two polymorphisms within the gene CARD15 (OR = 1,7; 95%CI 1,0 - 2,7). We found the protective effect of the p.381Gln in the gene IL23R (OR = 0,6; 95%CI 0,3 - 1,0). Variant p.197Ala within the gene ATG16L1 increased the risk of CD (OR = 1,3; 95%CI 1,0 - 1,9). We did not detect association...
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