Association between polymorphisms in the nuclear respiratory factor 1 gene and type 2 diabetes mellitus in the Korean population.

Abstract

AIMS/HYPOTHESIS:

Dysfunction in mitochondrial oxidative phosphorylation plays a central role in insulin resistance and type 2 diabetes. Nuclear respiratory factor 1 (NRF1) is a transcription factor that acts on nuclear genes encoding respiratory subunits and components of the mitochondrial transcription and replication machinery. Thus, we investigated its genetic association with type 2 diabetes.

METHODS:

The NRF1 gene was sequenced to identify polymorphisms in 24 Korean DNA samples and then common variants were genotyped in 766 patients with type 2 diabetes and 303 non-diabetic subjects.

RESULTS:

Twelve single nucleotide polymorphisms and one insertion/deletion polymorphism were identified. Six common variants among them were genotyped in a larger study. Although three individual polymorphisms appeared to be associated with type 2 diabetes (g.-46350insdel A, g.+141G>T and g.+54529A>G), the effects were only marginal. However, a haplotype (H2) was associated with a decreased risk of type 2 diabetes and another haplotype (H4) was associated with an increased risk of type 2 diabetes (p values for the Haplo. Score test were 0.009 and 0.004, respectively).

CONCLUSIONS/INTERPRETATION:

We demonstrated that two common haplotypes of NRF1 gene are associated with type 2 diabetes in the Korean population.

• Authors: Y M Cho, H D Shin, B L Park, J H Kim, K S Park, S Y Kim, H K Lee
• Journal: Diabetologia (Diabetologia) Vol. 48 Issue 10 Pg. 2033-8 (Oct 2005) ISSN: 0012-186X [Print] Germany
• PMID: 16082529 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• GA-Binding Protein Transcription Factor
• Nuclear Respiratory Factor 1
• DNA

Topics

• Aged
• DNA (genetics)
• Diabetes Mellitus, Type 2 (epidemiology, genetics)
• Female
• Fluorescence Polarization Immunoassay
• GA-Binding Protein Transcription Factor (genetics)
• Genetic Variation
• Genotype
• Haplotypes
• Humans
• Korea (epidemiology)
• Male
• Middle Aged
• Nuclear Respiratory Factor 1 (genetics)
• Phenotype
• Polymorphism, Single Nucleotide
• Reverse Transcriptase Polymerase Chain Reaction
• Risk Assessment