Genetic Variation in the Hypoxia-Inducible Factor-1α Gene Is Associated with Type 2 Diabetes in Japanese

Yamada, Noriko; Horikawa, Yukio; Oda, Naohisa; Iizuka, Katsumi; Shihara, Nobuyuki; Kishi, Shoji; Takeda, Jun

doi:10.1210/jc.2005-0991

Cited by 86 publications

(80 citation statements)

References 31 publications

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“…Compared to controls, patients with type 2 diabetes have decreased HIF-1␤ mRNA levels in pancreatic islet tissue, which suggests that changes in HIF-1 activity may contribute to the pathogenesis of diabetes (28). A human genetic polymorphism that results in the substitution of serine for proline at residue 582 of HIF-1␣ is associated with type 2 diabetes (29). The P582S polymorphism is also associated with absence of coronary collaterals in patients with ischemic heart disease (30).…”

Section: Discussionmentioning

confidence: 99%

Adenoviral transfer of HIF-1α enhances vascular responses to critical limb ischemia in diabetic mice

Sarkar¹,

Fox-Talbot²,

Steenbergen³

et al. 2009

Proc. Natl. Acad. Sci. U.S.A.

125

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Diabetes is a major risk factor for ischemic disease. Treatment options for diabetic patients with peripheral arterial disease when revascularization is not possible are limited, resulting in a high incidence of limb amputation. We evaluated the therapeutic potential of AdCA5, an adenovirus encoding a constitutively active form of HIF-1α, in a diabetic model of critical limb ischemia. Diabetic db / db and nondiabetic db /+ mice were subjected to unilateral femoral artery ligation. Limb perfusion, tissue viability, and motor function were more severely impaired in db / db mice. Intramuscular injection of AdCA5 into the ischemic limb of db / db mice increased the recovery of limb perfusion and function, reduced tissue necrosis, rescued the diabetes-associated impairment of circulating angiogenic cells, enhanced endothelial nitric oxide synthase activation, and increased vessel density and luminal area in the ischemic limb.

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Section: Discussionmentioning

confidence: 99%

Adenoviral transfer of HIF-1α enhances vascular responses to critical limb ischemia in diabetic mice

Sarkar¹,

Fox-Talbot²,

Steenbergen³

et al. 2009

Proc. Natl. Acad. Sci. U.S.A.

125

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“…A case-control study observed higher frequencies of the P582S T-containing variant genotypes among 196 androgen-independent prostate cancer cases compared with 196 controls [15]. Although proline 582 has not been identified as a hydroxylation site necessary to mediate VHL binding [35] and one study on colorectal cancer incidence reported null associations with this polymorphism [36], the P582S variant genotypes (vs. wild-type) yield significantly higher transcription activity under both normoxic and hypoxic conditions [11][12][13]. Furthermore, the P582S polymorphism may confer susceptibility to renal cell carcinoma [37,38] and is associated with significantly increased microvessels among patients with head and neck squamous cell carcinoma [11].…”

Section: Discussionmentioning

confidence: 99%

“…P582S causes a change from proline to serine at codon 582, and A588T causes a change from alanine to threoine at codon 588. Although the functionality of these polymorphisms are not completely clear, both the P582S [11][12][13] and A588T [11] variants (vs. wild-type) yielded significantly higher transcription activity. Interestingly, our group recently identified the P582S C!T as a somatic mutation in bone marrow metastatic biopsies from men with androgen-independent prostate cancers; and our in vitro experiment demonstrated that, under normoxic conditions, this mutation had significantly higher transcription activity, which reflected increased HIF-1a protein expression [13].…”

Section: Introductionmentioning

confidence: 96%

Energetic Systems and Nanotechnology - A Look Ahead

Kavetsky¹,

Anand²,

Goldwasser³

et al. 2005

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Public reporting burden for this collection of information is estimated to average 1 hour per response, including the time for reviewing instructions, searching existing data sources, gathering and maintaining the data needed, and completing and reviewing this collection of information. Send comments regarding this burden estimate or any other aspect of this collection of information, including suggestions for reducing this burden to Department of Defense, Washington Headquarters Services, Directorate for Information Operations and Reports (0704-0188), 1215 Jefferson Davis Highway, Suite 1204, Arlington, VA 22202-4302. Respondents should be aware that notwithstanding any other provision of law, no person shall be subject to any penalty for failing to comply with a collection of information if it does not display a currently valid OMB control number. PLEASE DO NOT RETURN YOUR FORM TO THE ABOVE ADDRESS. REPORT DATE 06-02-20082. REPORT TYPE SPONSOR/MONITOR'S REPORT NUMBER(S) DISTRIBUTION / AVAILABILITY STATEMENTApproved for Public Release; Distribution Unlimited SUPPLEMENTARY NOTES ABSTRACTThe P582S C->T and A588T G->A polymorphisms in the Hypoxia-inducible factor-1α (HIF-1α) gene have been associated with enhanced stability of the protein and androgen-independent prostate cancer (CaP) During the course of our research we published that P582S polymorphism was not associated with CaP (see appendix). However we observed a significant interaction of the P582S genotype with insulin-like growth factor binding protein (IGFBP)-3 in modifying CaP risk such that higher IGFBP-3 levels (>= versus

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“…44 However, the P582S polymorphism has been found to be associated with other disease phenotypes, including decreased coronary artery collateralization in ischemic heart disease patients, lower exercise-induced oxygen consumption in patients age 60 and older, prostate carcinoma, head and neck cancer and type 2 diabetes. [45][46][47][48][49][50] …”

Section: Chuvash Polycythemia and The P582s Polymorphism In Hif-1αmentioning

confidence: 99%

Oxygen Sensing: Recent Insights from Idiopathic Erythrocytosis

Lee

Percy²,

McMullin

2006

Cell Cycle

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Genetic Variation in the Hypoxia-Inducible Factor-1α Gene Is Associated with Type 2 Diabetes in Japanese

Abstract: This is the first report that HIF-1alpha is associated with the occurrence of type 2 diabetes and suggests that the P582S HIF-1alpha mutation should be assessed in larger studies as a risk factor for type 2 diabetes.

Cited by 86 publications

References 31 publications

Adenoviral transfer of HIF-1α enhances vascular responses to critical limb ischemia in diabetic mice

Adenoviral transfer of HIF-1α enhances vascular responses to critical limb ischemia in diabetic mice

Energetic Systems and Nanotechnology - A Look Ahead

Oxygen Sensing: Recent Insights from Idiopathic Erythrocytosis

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