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

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.