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Toll-like receptor 9 gene mutations and polymorphisms in Japanese ulcerative colitis patients

World Journal of Gastroenterology 2010年第46期16卷 5815-5821页

作者： kaori fuse Kyoko Katakura Natsumi Sakamoto Hiromasa Ohira Department of Gastroenterology and Rheumatology School of MedicineFukushima Medical University

Abnormal innate immune responses toward luminal bacteria play an important role in the pathogenesis of inflammatory bowel *** has been demonstrated that bacteria having CpG DNA ameliorate experimental colitis in mice,and Toll-like receptor 9 (TLR9) signaling mediates the anti-inflammatory effects in mouse colonic inflammation.A gene variation in NOD2/CARD15 has been reported in Crohn's disease (CD) patients in Western countries,but this variation has not been identified in Japanese CD ***,we hypothesized that TLR9 is a key factor in the development of ulcerative colitis (UC),and we investigated gene mutations and polymorphisms of TLR9 in Japanese UC *** single nucleotide polymorphisms (SNPs) in TLR9 were identified in healthy controls,and were assessed in 48 UC patients and 47 healthy *** subjects were matched for age,sex and date of blood sampling from among a subgroup of *** found that TLR9-1486CC,1174GG and 2848AA increase the risk of UC [odds ratio (OR) 2.64,95% confidence interval (95% CI):1.73-6.53,P=0.042],and TLR9-1486TT,1174AA and 2848GG decrease the risk of UC (OR 0.30,95% CI:0.10-0.94,P=0.039),although there were no correlations between SNPs and disease phenotype or TLR9 mRNA *** findings suggest that TLR9 polymorphisms are associated with increased susceptibility to UC.

关键词： Toll-like receptor 9 Single nucleotide polymorphism Ulcerative colitis Inflammatory bowel disease Innate immunity

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