Abstract

BACKGROUND
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.

• Keywords: HNF-4alpha;Type 2 diabetes mellitus;MODY;Polymorphism