title: Association between polymorphisms in the nuclear respiratory factor 1 gene and type 2 diabetes mellitus in the Korean population.
abstract: OBJECTIVE
  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
  We demonstrated that two common haplotypes of NRF1 gene are associated with type 2 diabetes in the Korean population.
authors.affiliation: Department of Internal Medicine, Seoul National University College of Medicine, 28 Yongon-dong, Chongno-gu, Seoul 110-744, South Korea.
authors.forename: Y M
authors.initials: YM
authors.lastname: Cho
authors.forename: H D
authors.initials: HD
authors.lastname: Shin
authors.forename: B L
authors.initials: BL
authors.lastname: Park
authors.forename: J H
authors.initials: JH
authors.lastname: Kim
authors.forename: K S
authors.initials: KS
authors.lastname: Park
authors.forename: S Y
authors.initials: SY
authors.lastname: Kim
authors.forename: H K
authors.initials: HK
authors.lastname: Lee
mesh_terms: D000368:Aged; D004247:DNA / Q000235:genetics; D003924:Diabetes Mellitus, Type 2 / Q000453:epidemiology* / Q000235:genetics*; D005260:Female; D016231:Fluorescence Polarization Immunoassay; D051268:GA-Binding Protein Transcription Factor / Q000235:genetics*; D014644:Genetic Variation; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D007723:Korea / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D051266:Nuclear Respiratory Factor 1 / Q000235:genetics*; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D020133:Reverse Transcriptase Polymerase Chain Reaction; D018570:Risk Assessment
chemical_list: D051268:GA-Binding Protein Transcription Factor; D051266:Nuclear Respiratory Factor 1; D004247:DNA