Diabetes Metab J > Volume 30(1); 2006 > Article
Korean Diabetes Journal 2006;30(1):10-16.
DOI: https://doi.org/10.4093/jkda.2006.30.1.10    Published online January 1, 2006.
Association between Genetic Polymorphisms in Hepatocyte Nuclear Factor 4alpha and Type 2 Diabetes in Koreans.
Eun Jung Lee, Soo Heon Kwak, Sun Wook Jo, Hyung Jin Choi, Hyoung Doo Shin, Min Kyong Moon, Young Min Cho, Hak Chul Jang, Kyong Soo Park, Houng Kyu Lee
1Department of Internal Medicine, Seoul National University College of Medicine, Seoul, Korea.
2Genome Research Center for Diabetes and Endocrine Disease, Clinical Research Institute, Seoul National University Hospital, Seoul, Korea.
3Department of Genetic Epidemiology, SNP genetics,Inc.,Seoul, Korea.
Hepatocyte nuclear factor-4alpha (HNF-4alpha) is a member of transcription factor network which is essential for the development and function of the beta cell. Furthermore mutations in the HNF-4alpha gene have been known to cause maturity-onset diabetes of the young. Therefore we aimed to examine the association between polymorphisms in the HNF-4alpha gene and the risk of type 2 diabetes (T2DM) and its related phenotypes in the Korean population. METHODS: Two single nucleotide polymorphisms (SNPs) in the HNF-4alpha gene, g.4681C>T and HNF-4alpha g.12352C>T (Thr139Ile), were genotyped in unrelated T2DM (n=760) and non-diabetic subjects (n=303). The genetic associations between these SNPs and the risk of T2DM and metabolic phenotypes were analyzed. RESULTS: There was no significant association between genetic polymorphisms in the HNF-4alpha and the risk of T2DM. However HNF-4alpha g.4681C>T increased total cholesterol in the recessive model (P = 0.02) and showed marginal association with fasting plasma glucose (P = 0.049) in the additive model. CONCLUSION: There was no significant association between genetic polymorphisms and the risk of T2DM in the Korean populations. But HNF-4alpha g.4681C>T was associated with higher level of total cholesterol and fasting plasma glucose.
Key Words: HNF-4alpha, Type 2 diabetes mellitus, MODY, Polymorphism

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