J Korean Med Sci.  2012 Jan;27(1):72-77. 10.3346/jkms.2012.27.1.72.

Association Between Toll-Like Receptors/CD14 Gene Polymorphisms and Inflammatory Bowel Disease in Korean Population

• Kim EJ
• Chung WC
• Lee KM
• Paik CN
• Jung SH
• Lee BI
• Chae HS
• Choi KY

• KMID: 1792982
• DOI: http://doi.org/10.3346/jkms.2012.27.1.72

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.

Keyword

CD 14; Inflammatory Bowel Diseases; Toll-Like Receptors

MeSH Terms

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

Figure

• 

  Fig. 1 Detection for the -159C/T polymorphism of CD14 gene by using PCR-RFLP. Digestion of the PCR products yielded bands of 295 bp in TT homozygotes, 140 and 155 bp in CC homozygotes, and all 3 bands (140, 155, and 295 bp) in heterozygotes.

• 

  Fig. 2 Allele frequency of the promoter polymorphism at -159 C/T of the CD14 gene according to disease extent in patients with ulcerative colitis.

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