The pregnane X receptor locus is associated with susceptibility to inflammatory bowel disease.
作者： Megan M. Dring , Carol A. Goulding , Valerie I. Trimble , Denise Keegan , Anthony W. Ryan
DOI: 10.1053/J.GASTRO.2005.12.008
关键词: Biology 、 Single-nucleotide polymorphism 、 Genotype 、 Haplotype 、 Immunology 、 Inflammatory bowel disease 、 Crohn's disease 、 Pregnane X receptor 、 Linkage disequilibrium 、 Odds ratio
摘要: Background & Aims: The pregnane X receptor (PXR) regulates an array of genes involved in the response to xenobiotics. Evidence from several studies suggests that xenobiotic metabolism may play a role inflammatory bowel disease (IBD) and low levels PXR be associated with expression. aim this study was investigate association functional polymorphisms encoding gene ( NR1I2 ) IBD populations. Methods: This case-control examining 8 single nucleotide (SNPs) previously altered activity PXR-regulated Irish cohort including 422 patients 350 ethnically matched controls. Results: We showed significant associations IBD, Crohn's (CD), ulcerative colitis (UC) groups compared control population for SNPs −23585 (IBD: P = .000008; odds ratio [OR], 1.62; 95% confidence interval [CI], 1.31–2.00) −24381 .0002; OR, 1.50; CI, 1.21–1.84). 7635 .0008) 8055 .007) were found CD but not UC. Risk is strongly correlated genotype at these sites, especially −25385CC .00001; 2.92; 1.87–4.66). also show specific correlations phenotype genotypes haplotypes patient group. Conclusions: These results genetic variation gene, which has been PXR, susceptibility CD,
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