Novel Promoter Polymorphism in RUNX2 Is Associated with Serum Triglyceride Level

  • Shin, Hyoung Doo (Department of Life Science, Sogang University) ;
  • Jeon, Jae-Pil (National Genome Research Institute, National Institute of Health) ;
  • Park, Byung Lae (Department of Genetic Epidemiology, SNP Genetics) ;
  • Bae, Joon Seol (Department of Genetic Epidemiology, SNP Genetics) ;
  • Nam, Hye-Young (National Genome Research Institute, National Institute of Health) ;
  • Shim, Sung-Mi (National Genome Research Institute, National Institute of Health) ;
  • Park, Kyong Soo (Genome Research Center for Diabetes and Endocrine Disease, Clinical Research Institute, Seoul National University Hospital, Department of Internal Medicine, Seoul National University College of Medicine) ;
  • Han, Bok-Ghee (National Genome Research Institute, National Institute of Health)
  • Received : 2008.04.14
  • Accepted : 2008.07.09
  • Published : 2008.11.30


Much research evidence supports the hypothesis that chronic, low-grade inflammation related to innate immunity may play an important role in the pathophysiology of type 2 diabetes mellitus (T2DM). Runt-related transcription factor 2 (RUNX2; MIM# 600211) acts as a scaffold that controls the integration, organization, and assembly of nucleic acids. To examine whether the novel promoter variant in RUNX2 is associated with the risk of T2DM and related phenotypes, RUNX2-742G > T was genotyped in 378 T2DM patients and 382 normal controls recruited in the Korean T2DM Study. Statistical analysis revealed that RUNX2-742G > T was associated with serum triglyceride level (TG) in nondiabetic controls, although it was not associated with the risk of T2DM. Individuals who carry T/T, T/G, and G/G genotypes had the highest ($2.061{\pm}0.20$), intermediate ($2.01{\pm}0.19$), and the lowest ($1.97{\pm}0.18$) levels of log [TG (mmol/l)] (P = 0.007), respectively. Our data on this important variant of RUNX2 suggest that lipid metabolism might be affected by genetic polymorphisms in the promoter region.


polymorphism;promoter;RUNX2;triglyceride;type 2 diabetes mellitus


Supported by : National Institute of Health, Ministry of Health and Welfare


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