Genetic variation in the hypoxia-inducible factor-1α gene is associated with type 2 diabetes in Japanese

Journal of Clinical Endocrinology and Metabolism

Volumn 90, Issue 10, 2005, Pages 5841-5847

  Yamada, Norihiro ^a   Horikawa, Yukio ^a,b,c   Oda, Naohisa ^d   Iizuka, Katsumi ^b   Shihara, Nobuyuki ^a,b   Kishi, Shoji ^a   Takeda, Jun ^a,b,c  

^a GUNMA UNIVERSITY   (Japan)

^b JAPAN SCIENCE AND TECHNOLOGY AGENCY   (Japan)

^c GIFU UNIVERSITY   (Japan)

^d FUJITA HEALTH UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGED; ARTICLE; CONTROLLED STUDY; DIABETIC RETINOPATHY; EXON; FEMALE; GENE LINKAGE DISEQUILIBRIUM; GENE MUTATION; GENETIC VARIABILITY; HAPLOTYPE; HUMAN; HYPOXIA; MAJOR CLINICAL STUDY; MALE; NON INSULIN DEPENDENT DIABETES MELLITUS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; TRANSCRIPTION INITIATION;

ALLELES; CLONING, MOLECULAR; DIABETES MELLITUS, TYPE 2; DIABETIC RETINOPATHY; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; EXONS; FEMALE; GENE FREQUENCY; HAPLOTYPES; HUMANS; HYPOXIA-INDUCIBLE FACTOR 1; HYPOXIA-INDUCIBLE FACTOR 1, ALPHA SUBUNIT; JAPAN; LINKAGE DISEQUILIBRIUM; MALE; MIDDLE AGED; NUCLEAR PROTEINS; POLYMORPHISM, SINGLE NUCLEOTIDE; TRANSCRIPTION FACTORS; VARIATION (GENETICS);

EID: 26244439272     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2005-0991     Document Type: Article

References (31)

1. 1997 Report of the Expert Committee on the Diagnosis and Classification of Diabetes Mellitus. Diabetes Care 20:1183-1197
2. Diabetes Control and Complications Trial Research Group 1997 Clustering of long-term complications in families with diabetes in the diabetes control and complications trial. Diabetes 46:1829-1839
3. Rema M, Saravanan G, Deepa R, Mohan V 2002 Familial clustering of diabetic retinopathy in South Indian type 2 diabetic patients. Diabet Med 19:910-916
4. Duh E, Aiello LP 1999 Vascular endothelial growth factor and diabetes: the agonist versus antagonist paradox. Diabetes 48:1899-1906
5. Aiello LP, Avery RL, Arrigg PG, Keyt BA, Jampel HD, Shah ST, Pasquale LR, Thieme H, Iwamoto MA, Park JE, Nguyen HV, Aiello LM, Ferrara N, King GL 1994 Vascular endothelial growth factor in ocular fluid of patients with diabetic retinopathy and other retinal disorders. N Engl J Med 331:1480-1487
6. Awata T, Inoue K, Kurihara S, Ohkubo T, Watanabe M, Inukai K, Inoue I, Katayama S 2002 A common polymorphism in the 5′-untranslated region of the VEGF gene is associated with diabetic retinopathy in type 2 diabetes. Diabetes 51:1635-1639
7. Lammert E, Cleaver O, Melton D 2001 Induction of pancreatic differentiation by signals from blood vessels. Science 294:564-567
8. Forsythe JA, Jiang BH, Iyer NV, Agani F, Leung SW, Koos RD, Semenza GL 1996 Activation of vascular endothelial growth factor gene transcription by hypoxia-inducible factor 1. Mol Cell Biol 16:4604-4613
9. Liu Y, Cox SR, Morita T, Kourembanas S 1995 Hypoxia regulates vascular endothelial growth factor gene expression in endothelial cells. Circ Res 77:638-643
10. Wang GL, Semenza GL 1993 General involvement of hypoxia-inducible factor 1 in transcriptional response to hypoxia. Proc Natl Acad Sci USA 90:4304-4308
11. 2 tension. Proc Natl Acad Sci USA 92:5510-5514
12. Maxwell PH, Wiesener MS, Chang GW,Clifford SC, Vaux EC, Cockman ME, Wykoff CC, Pugh CW, Maher ER, Ratcliffe PJ 1999 The tumor suppressor protein VHL targets hypoxia-inducible factors for oxygen-dependent proteolysis. Nature 399:271-275
13. 2-dependent degradation domain via the ubiquitin-proteasome pathway. Proc Natl Acad Sci USA 95:7987-7992
14. Silander K, Scott LJ, Valle TT, Mohlke KL, Stringham HM, Wiles KR, Duren WL, Doheny KF, Pugh EW, Chines P, Narisu N, White PP, Fingerlin TE, Jackson AU, Li C, Ghosh S, Magnuson VL, Colby K, Erdos MR, Hill JE, Hollstein P, Humphreys KM, Kasad RA, Lambert J, Lazaridis KN, Lin G, Morales-Mena A, Patzkowski K, Pfahl C, Porter R, Rha D, Segal L, Suh YD, Tovar J, Unni A, Welch C, Douglas JA, Epstein MP, Hauser ER, Hagopian W, Buchanan TA, Watanabe RM, Bergman RN, Tuomilehto J, Collins FS, Boehnke M; Finland-United States Investigation of NIDDM Genetics (FUSION) 2004 A large set of Finnish affected sibling pair families with type 2 diabetes suggests susceptibility loci on chromosomes 6, 11, and 14. Diabetes 53:821-829
15. Iyer NV, Leung SW, Semenza GL 1998 The human hypoxia-inducible factor 1α gene: HIF1A structure and evolutionary conservation. Genomics 52:159-165
16. Semenza GL 2000 HIF-1 and human disease: one highly involved factor. Genes Dev 14:1983-1991
17. Yim S, Choi SM, Choi Y, Lee N, Chung J, Park H 2003 Insulin and hypoxia share common target genes but not the hypoxia-inducible factor-1α. J Biol Chem 278:38260-38268
18. Kuzuya T, Nakagawa S, Satoh, J, Kanazawa Y, Iwamoto Y, Kobayashi M, Nanjo K, Sasaki A, Seino Y, Ito C, Shima K, Nonaka K, Kadowaki T 2002 Report of the committee of the Japan Diabetes Society on the classification and diagnostic criteria of diabetes mellitus. Diabetes Res Clin Pract 55:65-85
19. Horikawa Y, Oda N, Cox NJ, Li X, Orho-Melander M, Hara M, Hinokio Y, Lindner TH, Mashima H, Schwarz PE, del Bosque-Plata L, Horikawa Y, Oda Y, Yoshiuchi I, Colilla S, Polonsky KS, Wei S, Concannon P, Iwasaki N, Schulze J, Baier LJ, Bogardus C, Groop L, Boerwinkle E, Hanis CL, Bell GI 2000 Genetic variation in the gene encoding calpain-10 is associated with type 2 diabetes mellitus. Nat Genet 26:163-175
20. Altshuler D, Hirschhorn JN, Klannemark M, Lindgren CM, Vohl MC, Nemesh J, Lane CR, Schaffner SF, Bolk S, Brewer C, Tuomi T, Gaudet D, Hudson TJ, Daly M, Groop L, Lander ES 2000 The common PPARγ Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes. Nat Genet 26:76-80
21. Ioannidis JP, Trikalinos TA, Ntzani EE, Contopoulos-Ioannidis DG 2003 Genetic associations in large versus small studies: an empirical assessment. Lancet 361:567-571
22. Frank RN 2004 Diabetic retinopathy. N Engl J Med 350:48-58
23. Yamada N, Shihara N, Horikawa Y, Wang H, Takeda J, Kishi S 2005 Expression profile of 1000 mRNAs from rat retina. Kitakanto Med J 55:5-12
24. 2-dependent degradation domain of hypoxia inducible factor-1α (HIF-1α). J Cancer Res Clin Oncol 128:358-362
25. Clifford SC, Astuti D, Hooper L, Maxwell PH, Ratcliffe PJ, Maher ER 2001 The PVHL-associated SCF ubiquitin ligase complex: molecular genetic analysis of elongin B and C, Rbx 1 and HIF-1α in renal cell carcinoma. Oncogene 20:5067-5074
26. Ollerenshaw M, Page T, Hammonds J, Demaine A 2004 Polymorphisms in the hypoxia inducible factor-1α gene (HIF1A) are associated with the renal cell carcinoma phenotype. Cancer Genet Cytogenet 153:122-126
27. Fu XS, Choi E, Bubley GJ, Balk SP 2005 Identification of hypoxia-inducible factor-1α (HIF-1α) polymorphism as a mutation in prostate cancer that prevents normoxia-induced degradation. Prostate 63:215-221
28. Tanimoto K, Yoshiga K, Eguchi H, Kaneyasu M, Ukon K, Kumazaki T, Oue N, Yasui W, Imai K, Nakachi K, Poellinger L, Nishiyama M 2003 Hypoxia-inducible factor-1α polymorphisms associated with enhanced transactivation capacity, implying clinical significance. Carcinogenesis 24:1779-1783
29. Percy MJ, Mooney SM, McMullin MF, Flores A, Lappin TR, Lee FS 2003 A common polymorphism in the oxygen-dependent degradation (ODD) domain of hypoxia inducible factor-1α (HIF-1α) does not impair Pro-564 hydroxylation. Mol Cancer 2:31
30. Moritz W, Meier F, Stroka DM, Giuliani M, Kugelmeier P, Nett PC, Lehmann R, Candinas D, Gassmann M, Weber M 2002 Apoptosis in hypoxic human pancreatic islets correlates with HIF-1α expression. FASEB J 16:745-747
31. Poulaki V, Qin W, Joussen AM, Hurlbut P, Wiegand SJ, Rudge J, Yancopoulos GD, Adamis AP 2002 Acute intensive insulin therapy exacerbates diabetic blood-retinal barrier breakdown via hypoxia-inducible factor-1α and VEGF. J Clin Invest 109:805-815