Original Article
Copyright ©2010 Baishideng Publishing Group Co., Limited. All rights reserved.
World J Gastroenterol. Dec 14, 2010; 16(46): 5815-5821
Published online Dec 14, 2010. doi: 10.3748/wjg.v16.i46.5815
Toll-like receptor 9 gene mutations and polymorphisms in Japanese ulcerative colitis patients
Kaori Fuse, Kyoko Katakura, Natsumi Sakamoto, Hiromasa Ohira
Kaori Fuse, Kyoko Katakura, Natsumi Sakamoto, Hiromasa Ohira, Department of Gastroenterology and Rheumatology, School of Medicine, Fukushima Medical University, 1 Hikarigaoka, Fukushima 960-1295, Japan
Author contributions: Katakura K and Sakamoto N designed the study; Fuse K and Sakamoto N performed the experiments; Fuse K, Katakura K and Ohira H wrote the manuscript.
Supported by (in part) Grants from the Ministry of Education, Culture, Sports, Science and Technology, Japan (to Katakura K)
Correspondence to: Kyoko Katakura, MD, PhD, Department of Gastroenterology and Rheumatology, School of Medicine, Fukushima Medical University, 1 Hikarigaoka, Fukushima 960-1295, Japan. k-kata@fmu.ac.jp
Telephone: +81-24-5471202 Fax: +81-24-5472055
Received: July 20, 2010
Revised: August 17, 2010
Accepted: August 24, 2010
Published online: December 14, 2010
Abstract

AIM: To investigated gene mutations and polymorphisms of TLR9 in Japanese ulcerative colitis (UC) patients.

METHODS: Three single nucleotide polymorphisms (SNPs) in TLR9 were identified in healthy controls, and were assessed in 48 UC patients and 47 healthy controls. Control subjects were matched for age, sex and date of blood sampling from among a subgroup of participants.

RESULTS: 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 expression.

CONCLUSION: TLR9 polymorphisms are associated with increased susceptibility to UC.

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