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.
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: Seungwoo Hwang; Soo Heon Kwak; Jong Bhak; Hae Sun Kang; You Ri Lee; Bo Kyung Koo; Kyong Soo Park; Hong Kyu Lee; Young Min Cho Journal: PLoS One Date: 2011-07-13 Impact factor: 3.240
Authors: Veronica Astro; Maryam Alowaysi; Elisabetta Fiacco; Alfonso Saera-Vila; Kelly J Cardona-Londoño; Riccardo Aiese Cigliano; Antonio Adamo Journal: Front Cell Dev Biol Date: 2022-02-03