Yonsei Med J.  2008 Feb;49(1):58-62.

Rarity of TLR4 Asp299Gly and Thr399Ile Polymorphisms in the Korean Population

• Kim YS
• Hwang YJ
• Kim SY
• Yang SM
• Lee KY
• Park IB

Abstract

PURPOSE
Activation of the innate immune system and chronic low-grade inflammation are thought to be involved in the pathogenesis of atherosclerosis and also thought to be associated with type 2 diabetes and its complications. As a receptor for bacterial lipopolysaccharide and heat-shock proteins, Toll-like receptor 4 (TLR4) is one of the central regulators of the immune response. Recent studies have reported an association between TLR4 polymorphisms and diabetes and its complications in Caucasian populations. MATERIALS AND METHODS: In this study, we analyzed the association between TLR4 gene polymorphisms in patients with features of type 2 diabetes and healthy controls in Korea. Two polymorphisms of the TLR4 gene (Asp299Gly and Thr399Ile) were examined in 225 diabetic patients and 153 healthy controls using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and single-strand conformation polymorphism (SSCP). RESULTS: No Asp299Gly or Thr399Ile mutations were detected in any of the 378 subjects. Seven subjects from each group who had slightly different SSCP patterns were selected for sequencing, but we found no TLR4 polymorphisms on Exon3. The Asp299Gly and Thr399Ile TLR4 gene polymorphisms were absent in both groups, which was similar to the results for Japanese and Chinese Han subjects. CONCLUSION: Our data and other Asian data suggest that a racial difference can be found in the frequency of the TLR4 polymorphism.

Keyword

Type 2 diabetes; TLR4; polymorphism; inflammation; innate immunity

MeSH Terms

Adult
Amino Acids/genetics
Base Sequence
Female
Humans
Korea
Male
Middle Aged
Molecular Sequence Data
Mutation/genetics
Polymorphism, Genetic/*genetics
Toll-Like Receptor 4/*genetics

Figure

• 

  Fig. 1 The sequencing results for the samples in diabetic patients (A) and normal controls (B). The sequencing results in all lanes were homozygous for adenine at position 896. No GAT(Asp)→GGT(Gly) substitution was observed.

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