Association Between Toll-Like Receptors/CD14 Gene Polymorphisms and Inflammatory Bowel Disease in Korean Population.
10.3346/jkms.2012.27.1.72
- Author:
Eun Jung KIM
1
;
Woo Chul CHUNG
;
Kang Moon LEE
;
Chang Nyol PAIK
;
Sung Hoon JUNG
;
Bo In LEE
;
Hiun Suk CHAE
;
Kyu Yong CHOI
Author Information
1. Department of Internal Medicine, St. Vincent Hospital, The Catholic University of Korea, Suwon, Korea. drmaloman@catholic.ac.kr
- Publication Type:Original Article
- Keywords:
CD 14;
Inflammatory Bowel Diseases;
Toll-Like Receptors
- MeSH:
Adult;
Aged;
Alleles;
Antigens, CD14/*genetics;
Asian Continental Ancestry Group/*genetics;
Colitis, Ulcerative/genetics;
Crohn Disease/genetics;
Female;
Gene Frequency;
Genetic Predisposition to Disease;
Genotype;
Humans;
Inflammatory Bowel Diseases/*genetics;
Male;
Middle Aged;
Phenotype;
Polymorphism, Single Nucleotide;
Promoter Regions, Genetic;
Republic of Korea;
Toll-Like Receptor 1/genetics;
Toll-Like Receptor 2/genetics;
Toll-Like Receptor 4/genetics;
Toll-Like Receptor 6/genetics;
Toll-Like Receptors/*genetics
- From:Journal of Korean Medical Science
2012;27(1):72-77
- CountryRepublic of Korea
- Language:English
-
Abstract:
The innate immune response in patients who develop inflammatory bowel disease (IBD) may be abnormal. However, the exact role of Toll-like receptors (TLRs) / CD14 gene in the pathogenesis of IBD has not been fully elucidated. We aimed to investigate the association between polymorphisms of TLR1, 2, 4, 6, and CD14 gene and susceptibility to IBD in Korean population. A total 144 patients of IBD (99 patients with ulcerative colitis, 45 patients with Crohn's disease) and 178 healthy controls were enrolled. Using a PCR-RFLP, we evaluated mutations of TLR1 (Arg80Thr), TLR2 (Arg753Gln and Arg677Trp), TLR4 (Asp299Gly and Thr399Ile), TLR6 (Ser249Pro) genes and the -159 C/T promoter polymorphism of CD14 gene. No TLR polymorphisms were detected in Korean subjects. T allele and TT genotype frequencies of CD14 gene were significantly higher in IBD patients than in healthy controls. In subgroup analysis, T allelic frequency was higher in pancolitis phenotype of ulcerative colitis. In Korean population, the promoter polymorphism at -159 C/T of the CD14 gene is positively associated with IBD, both ulcerative colitis and Crohn's disease.