J Korean Diabetes Assoc.  2006 Jan;30(1):10-16.

Association between Genetic Polymorphisms in Hepatocyte Nuclear Factor 4alpha and Type 2 Diabetes in Koreans

• Lee EJ
• Kwak SH
• Jo SW
• Choi HJ
• Shin HD
• Moon MK
• Cho YM
• Jang HC
• Park KS
• Lee HK

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.

Keyword

HNF-4alpha; Type 2 diabetes mellitus; MODY; Polymorphism

MeSH Terms

Blood Glucose
Cholesterol
Diabetes Mellitus, Type 2
Fasting
Hepatocytes*
Phenotype
Polymorphism, Genetic*
Polymorphism, Single Nucleotide
Transcription Factors
Cholesterol
Transcription Factors

Figure

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  Fig. 1 Map of polymorphisms in the HNF-4α gene and Haplotype.

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