Journal of Physiology & Pathology in Korean Medicine (동의생리병리학회지)

The Physiological Society of Korean Medicine and The Society of Pathology in Korean Medicine (대한동의생리학회·한의병리학회)
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Study about the Association between Diabetes and the Targeted SNPs of TCF7L2 and FTO Genes

당뇨병에서 TCF7L2와 FTO 유전자의 특정 단일염기다형성과의 연관성 연구

  • Hsia, Yu-Chun (Department of Internal Medicine, College of Oriental Medicine, Kyungwon University) ;
  • Park, Jong-Hyung (Department of Internal Medicine, College of Oriental Medicine, Kyungwon University) ;
  • Jun, Chan-Yong (Department of Internal Medicine, College of Oriental Medicine, Kyungwon University) ;
  • Ko, Seung-Gyu (Department of Preventive Medicine, College of Oriental Medicine, Kyunghee University) ;
  • Choi, You-Kyung (Department of Internal Medicine, College of Oriental Medicine, Kyungwon University)
  • 하유군 (경원대학교 한의과대학 내과학교실) ;
  • 박종형 (경원대학교 한의과대학 내과학교실) ;
  • 전찬용 (경원대학교 한의과대학 내과학교실) ;
  • 고성규 (경희대학교 한의과대학 예방의학교실) ;
  • 최유경 (경원대학교 한의과대학 내과학교실)
  • Received : 2009.11.11
  • Accepted : 2010.05.07
  • Published : 2010.06.25
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Abstract

Diabetes is a disease that contains a high concentration of glucose in blood and due to defects in either insulin secretion or insulin action. Although the distinctive causes and factors of diabetes have not been clarified, the genetic factors are suggested as a main susceptibility until now. SNP (Single Nucleotide Polymorphism), as the most common genetic variation, has an influence on personal susceptibility for diseases. A nonsynonymous SNP, which changes the amino acid of the protein and its function, is especially important. Therefore, this study hypothesized that there are associations between specific SNPs of the targeted genes. Transcription factor 7-like 2 (TCF7L2) and fat mass and obesity associated (FTO) genes were selected as target genes from the results of genome-wide association and other related research studies. Second, four nonsynonymous SNPs (three in TCF7L2 and one in FTO gene) were selected as target SNPs by using public database of NCBI (National Center for Biotechnology Information). The recruited personnel was classified into three subgroups of diabetes, impaired fasting glucose (IFG) and normal groups. The individual genotypes of each group were analyzed by resequencing. None of genetic variations at four targeted SNP sites was revealed in all samples of this study. However, this study found two new SNPs that were not reported in TCF7L2 gene. One is synonymous SNP, which is heterozygous of C/T and no amino acid change of asparagine/asparagines, was located at c1641 and found in one normal person. Another is nonsynonymous SNP, which is heterozygous of G/A, was located at c1501 and found in two samples. This new discovered nonsynonymous SNP induce the amino acid change from alanine to threonine. Moreover, this new nonsynonymous SNP was found among two persons, one of whom was a diabetes patient and the other one was a person at boundary between IFG and normal, suggesting that this variant might be associated with IFG or diabetes. Even if there is a limitation of sample number for statistical power, this study has an importance due to the discovery of new SNPs. In the future study, a large sample number of diabetes cohort will be needed to investigate the frequency and association with new discovered SNP.

Keywords

References

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