Genetics of diabetic complications: Retinopathy;Génétique des complications du diabète: Rétinopathie

Annales d'Endocrinologie

Volumn 65, Issue 1 SUPPL., 2004, Pages

  Taverna, M J ^a  

^a HÔTEL DIEU   (France)

Author keywords

Diabetes mellitus; Diabetic complications; Diabetic retinopathy; Genetic risk; Genetics; Neovascularization; Polymorphism; Retina

Indexed keywords

ADVANCED GLYCATION END PRODUCT; ALDEHYDE REDUCTASE; ENDOTHELIAL NITRIC OXIDE SYNTHASE; GENE PRODUCT; INDUCIBLE NITRIC OXIDE SYNTHASE; PIGMENTED EPITHELIUM DERIVED FACTOR; PROTEIN KINASE C BETA; UNCLASSIFIED DRUG; VASCULOTROPIN; NITRIC OXIDE SYNTHASE; NOS2A PROTEIN, HUMAN; NOS3 PROTEIN, HUMAN; VASCULOTROPIN A;

CONFERENCE PAPER; DIABETES MELLITUS; DIABETIC RETINOPATHY; DISEASE ASSOCIATION; ENVIRONMENTAL FACTOR; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC MARKER; GENETIC RISK; HEREDITY; HUMAN; HYPERGLYCEMIA; MICROSATELLITE MARKER; PATHOGENESIS; PATHOPHYSIOLOGY; RETINA NEOVASCULARIZATION; RISK FACTOR; GENETIC PREDISPOSITION; GENETICS; REVIEW;

ALDEHYDE REDUCTASE; DIABETIC RETINOPATHY; GENETIC PREDISPOSITION TO DISEASE; HUMANS; NITRIC OXIDE SYNTHASE; NITRIC OXIDE SYNTHASE TYPE II; NITRIC OXIDE SYNTHASE TYPE III; VASCULAR ENDOTHELIAL GROWTH FACTOR A;

EID: 2942724215     PISSN: 00034266     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Conference Paper

References (100)

1. Siperstein MD, Unger RH, Madison LL. Studies of muscle capillary basement membranes in normal subjects, diabetic and prediabetic patients. J Clin Invest 1968; 47: 1973-99.
2. Jain A, Sarraf D, Fong D. Preventing diabetic retinopathy through control of systemic factors. Curr Opin Ophthalmol 2003; 14: 389-94.
3. Donaldson M, Dodson PM. Medical treatment of diabetic retinopathy. Eye 2003; 17: 550-62.
4. Pearson ER, Starkey BJ, Powell RJ, Gribble FM, Clark PM, Hattersley AT. Genetic cause of hyperglycaemia and response to treatment in diabetes. Lancet 2003; 362: 1275-81.
5. Gerling IC, Solomon SS, Bryer-Ash M. Genomes, transcriptomes, and proteomes: molecular medicine and its impact on medical practice. Arch Intern Med 2003; 163: 190-8.
6. Bowden DW. Genetics of diabetes complications. Curr Diab Rep 2002; 2: 191-200.
7. Ducrey N. Ophthalmologic complications of diabetes except for diabetic retinopathy. J Fr Ophtalmol 1999; 22: 400-7.
8. Schork NJ. Genetics of complex disease. Approaches, problems, and solutions. Am J Respir Crit Care Med 1997; 156: S103-9.
9. Lorenzi M, Gerhardinger C. Early cellular and molecular changes induced by diabetes in the retina. Diabetologia 2001; 44: 791-804.
10. Sheetz MJ, King GL. Molecular understanding of hyperglycemia's adverse effects for diabetic complications. JAMA 2002; 288: 2579-88.
11. Adamis AP. Is diabetic retinopathy an inflammatory disease? Br J Ophthalmol 2002; 86: 363-5.
12. Gardner TW, Antonetti DA, Barber AJ, LaNoue KF, Levison SW. Diabetic retinopathy: more than meets the eye. Surv Ophthalmol 2002; 47: S253-62.
13. Massin P, Sahel J. Diabetic retinopathy. Physiopathology, diagnosis, clinical course, principles of treatment. Rev Prat 2000; 50: 1035-41.
14. Ciulla TA, Amador AG, Zinman B. Diabetic retinopathy and diabetic macular edema. Pathophysiology, screening, and novel therapies. Diabetes Care 2003; 26: 2653-64.
15. Ko BC, Lam KS, Wat NM, Chung SS. An (A-C)n dinucleotide repeat polymorphic marker at the 5′ end of the aldose reductase gene is associated with early-onset diabetic retinopathy in NIDDM patients. Diabetes 1995; 44: 727-32.
16. Zhang LY, Krentowski G, Albert A, Lefebvre PJ. Risk of developing retinopathy in Diabetes Control and Complications Trial type 1 diabetic patients with good or poor metabolic control. Diabetes Care 2001; 24: 1275-9.
17. The Diabetes Control and Complications Trial Research Group. The effect of intensive diabetes treatment on the progression of diabetic retinopathy in insulin-dependent diabetes mellitus. The Diabetes Control and Complications Trial. Arch Ophthalmol 1995; 113: 36-51.
18. The Diabetes Control and Complications Trial Research Group. The absence of a glycemic threshold for the development of long-term complications: the perspectives of the DCCT. Diabetes 1996; 45: 1289-98.
19. Snieder H, Sawtell PA, Ross L, Walker J, Spector TD, Leslie RDG. HbA1c levels are genetically determined even in type 1 diabetes. Evidence from healthy and diabetic twins. Diabetes 2001; 50: 2858-63.
20. Diabetes Drafting Group. Prevalence of small vessel and large vessel disease diabetic patients from 14 centres. The World Health Organization Multinational Study of Vascular Disease in Diabetes. Diabetologia 1985; 28: 615-40.
21. The Diabetes Control and Complications Trial Research Group. Clustering of long-term complications in families with diabetes in the Diabetes Control and Complications Trial. Diabetes 1997; 46: 1829-39.
22. Warpeha KM, Chakravarthy U. Molecular genetics of micro vascular disease in diabetic retinopathy. Eye 2003; 17: 305-11.
23. Taverna MJ, Sola A, Guyot-Argenton C et al. Taq I polymorphism of the vitamin D receptor and risk of severe diabetic retinopathy. Diabetologia 2002; 45: 436-42.
24. Warpeha KM, Xu W, Liu L et al. Genotyping and functional analysis of a polymorphic (CCTTT)n repeat of NOS2A in diabetic retinopathy. FASEB J 1999; 13: 1825-32.
25. Taverna MJ, Sola A, Guyot-Argenton C et al. eNOS4 polymorphism of the endothelial nitric oxide synthase predicts risk for severe diabetic retinopathy. Diabet Med 2002; 19: 240-5.
26. Awata T, Inoue K, Kurihara S et al. A common polymorphism in the 5′-untranslated region of the VEGF gene is associated with diabetic retinopathy in type 2 diabetes. Diabetes 2002; 51: 1635-9.
27. Hudson BI, Stickland MH, Futers TS, Grant PJ. Effects of novel polymorphisms in the RAGE gene on transcriptional regulation and their association with diabetic retinopathy. Diabetes 2001; 50: 1505-11.
28. Spirin KS, Saghizadeh M, Lewin SL, Zardi L, Kenney MC, Ljubimov AV. Basement membrane and growth factor gene expression in normal and diabetic human retinas. Curr Eye Res 1999; 18: 490-9.
29. Hofman P, van Blijswijk BC, Gaillard PJ, Vrensen GF, Schlingemann RO. Endothelial cell hypertrophy induced by vascular endothelial growth factor in the retina: new insights into the pathogenesis of capillary nonperfusion. Arch Ophthalmol 2001; 119: 861-6.
30. Funatsu H, Yamashita H, Noma H et al. Outcome of vitreous surgery and the balance between vascular endothelial growth factor and endostatin. Invest Ophthalmol Vis Sci 2003; 44: 1042-7.
31. Suzuma K, Takahara N, Suzuma I et al. Characterization of protein kinase C beta isoform's action on retinoblastoma protein phosphorylation, vascular endothelial growth factor-induced endothelial cell proliferation, and retinal neovascularization. Proc Natl Acad Sci USA 2002; 99: 721-6.
32. Boehm BO, Lang G, Volpert O et al. Low content of the natural ocular anti-angiogenic agent pigment epithelium-derived factor (PEDF) in aqueous humor predicts progression of diabetic retinopathy. Diabetologia 2003; 46: 394-400.
33. Roy S, Sato T, Paryani G, Kao R. Downregulation of fibronectin overexpression reduces basement membrane thickening and vascular lesions in retinas of galactose-fed rats. Diabetes 2003; 52: 1229-34.
34. Brooks SE, Gu X, Samuel S et al. Reduced severity of oxygen-induced retinopathy in eNOS-deficient mice. Invest Ophthalmol Vis Sci 2001; 42: 222-8.
35. Crabbe MJ, Goode D. Aldose reductase: a window to the treatment of diabetic complications? Prog Retin Eye Res 1998; 17: 313-83.
36. Ichikawa F, Yamada K, Ishiyama-Shigemoto S, Yuan X, Nonaka K. Association of an (A-C)n dinucleotide repeat polymorphic marker at the 5′-region of the aldose reductase gene with retinopathy but not with nephropathy or neuropathy in Japanese patients with Type 2 diabetes mellitus. Diabet Med 1999; 16: 744-8.
37. Kao Y-L, Donaghue K, Chan A, Knight J, Silink M. A novel-polymorphism in the aldose reductase gene promoter region is strongly associated with diabetic retinopathy in adolescents with type 1 diabetes. Diabetes 1999; 48: 1338-40.
38. Kao YL, Donaghue K, Chan A, Knight J, Silink M. An aldose reductase intragenic polymorphism associated with diabetic retinopathy. Diabetes Res Clin Pract 1999; 46: 155-60.
39. Demaine A, Cross D, Millward A. Polymorphisms of the aldose reductase gene and susceptibility to retinopathy in type 1 diabetes mellitus. Invest Ophthalmol Vis Sci 2000; 41: 4064-8.
40. Olmos P, Futers S, Acosta AM et al. (AC)23 [Z-2] polymorphism of the aldose reductase gene and fast progression of retinopathy in Chilean type 2 diabetics. Diabetes Res Clin Pract 2000; 47: 169-76.
41. Kumaramanickavel G, Sripriya S, Ramprasad VL, Upadyay NK, Paul PG, Sharma T. Z-2 aldose reductase allele and diabetic retinopathy in India. Ophthalmic Genet 2003; 24: 41-8.
42. Wang Y, Ng MC, Lee SC et al. Phenotypic heterogeneity and associations of two aldose reductase gene polymorphisms with nephropathy and retinopathy in type 2 diabetes. Diabetes Care 2003; 26: 2410-5.
43. Ikegishi Y, Tawata M, Aida K, Onaya T. Z-4 allele upstream of the aldose reductase gene is associated with proliferative retinopathy in Japanese patients with NIDDM, and elevated luciferase gene transcription in vitro. Life Sci 1999; 65: 2061-70.
44. Heesom AE, Hibberd ML, Millward A, Demaine AG. Polymorphism in the 5′-end of the aldose reductase gene is strongly associated with the development of diabetic nephropathy in type I diabetes. Diabetes 1997; 46: 287-91.
45. Maeda S, Haneda M, Yasuda H et al. Diabetic nephropathy is not associated with the dinucleotide repeat polymorphism upstream of the aldose reductase (ALR2) gene but with erythrocyte aldose reductase content in Japanese subjects with type 2 diabetes. Diabetes 1999; 48: 420-2.
46. Ng DP, Conn J, Chung SS, Larkins RG. Aldose reductase (AC)(n) microsatellite polymorphism and diabetic microvascular complications in Caucasian Type 1 diabetes mellitus. Diabetes Res Clin Pract 2001; 52: 21-7.
47. Park HK, Ahn CW, Lee GT et al. (AC)(n) polymorphism of aldose reductase gene and diabetic microvascular complications in type 2 diabetes mellitus. Diabetes Res Clin Pract 2002; 55: 151-7.
48. Isermann B, Schmidt S, Bierhaus A et al. (CA)(n) dinucleotide repeat polymorphism at the 5′-end of the aldose reductase gene is not associated with microangiopathy in Caucasians with long-term diabetes mellitus 1. Nephrol Dial Transplant 2000; 15: 918-20.
49. Fanelli A, Hadjadj S, Gallois Y et al. Polymorphism of aldose reductase gene and susceptibility to retinopathy and nephropathy in Caucasians with type 1 diabetes. Arch Mal Coeur Vaiss 2002; 95: 701-8.
50. Li Q, Xie P, Huang J, Gu Y, Zeng W, Song H. Polymorphisms and functions of the aldose reductase gene 5′ regulatory region in Chinese patients with type 2 diabetes mellitus. Chin Med J (Engl) 2002; 115: 209-13.
51. Yang B, Millward A, Demaine A. Functional differences between the susceptibility Z-2/C-106 and protective Z+2/T-106 promoter region polymorphisms of the aldose reductase gene may account for the association with diabetic microvascular complications. Biochim Biophys Acta 2003; 1639: 1-7.
52. Vinores A, Campochiaro PA, Williams EH, May EE, Green WR, Sorenson RL. Aldose reductase expression in human diabetic retina and retinal pigment epithelium. Diabetes 1988; 37: 1658-64.
53. Frank RN. The aldose reductase controversy. Diabetes 1994; 43: 169-72.
54. Yamaoka T, Nishimura C, Yamashita K et al. Acute onset of diabetic pathological changes in transgenic mice with human aldose reductase cDNA. Diabetologia 1995; 38: 255-61.
55. Amano S, Yamagishi S, Koda Y et al. Polymorphisms of sorbitol dehydrogenase (SDH) gene and susceptibility to diabetic retinopathy. Med Hypotheses 2003; 60: 550-1.
56. Obrosova IG, Minchenko AG, Vasupuram R et al. Aldose reductase inhibitor fidarestat prevents retinal oxidative stress and vascular endothelial growth factor overexpression in streptozotocin-diabetic rats. Diabetes 2003; 52: 864-71.
57. Demaine AG. Polymorphisms of the aldose reductase gene and susceptibility to diabetic microvascular complications. Curr Med Chem 2003; 10: 1389-98.
58. Palmer RMJ, Ferrige AG, Moncada S. Nitric oxide release accounts for the biological activity of endothelium-derived relaxing factor. Nature 1987; 327: 524-6.
59. Alderton WK, Cooper CE, Knowles RG. Nitric oxide synthases: structure, function and inhibition. Biochem J 2001; 357: 593-615.
60. Becquet F, Courtois Y, Goureau O. Nitric oxide in the eye: multifaceted roles and diverse outcomes. Surv Ophthalmol 1997; 42: 71-82.
61. Koss MC. Functional role of nitric oxide in regulation of ocular blood flow. Eur J Pharmacol 1999; 374: 161-74.
62. Ando A, Yang A, Mori K et al. Nitric oxide is proangiogenic in the retina and choroid. J Cell Physiol, 2002; 191: 116-24.
63. Kowluru RA. Effect of reinstitution of good glycemic control on retinal oxidative stress and nitrative stress in diabetic rats. Diabetes 2003; 52: 818-23.
64. Sitaramayya A. Soluble guanylate cyclases in the retina. Mol Cell Biochem 2002; 230: 177-86.
65. Roth S. Role of nitric oxide in retinal cell death. Clin Neurosci 1997; 4: 216-23.
66. Cramer KS, Leamey CA, Sur M. Nitric oxide as a signaling molecule in visual system development. Prog Brain Res 1998; 118: 101-14.
67. Kimura H, Esumi H. Reciprocal regulation between nitric oxide and vascular endothelial growth factor in angiogenesis. Acta Biochim Pol 2003; 50: 49-59.
68. Kumaramanickavel G, Sripriya S, Vellanki RN et al. Inducible nitric oxide synthase gene and diabetic retinopathy in Asian Indian patients. Clin Genet 2002; 61: 344-8.
69. Morris BJ, Markus A, Glenn CL, Adams DJ, Colagiuri S, Wang L. Association of a functional inducible nitric oxide synthase promoter variant with complications in type 2 diabetes. J Mol Med 2002; 80: 96-104.
70. Frost D, Chitu J, Meyer M, Beisher W, Pfohl M. Endothelial nitric oxide synthase (ecNOS) 4 a/b gene polymorphism and carotid artery intima-media thickness in type-1 diabetic patients. Exp Clin Endocrinol Diabetes 2003; 111: 12-5.
71. Tanus-Santos JE, Desai M, Flockhart DA. Effects of ethnicity on the distribution of clinically relevant endothelial nitric oxide variants. Pharmacogenetics 2001; 11: 719-25.
72. Taverna MJ, Azan F, Selmi H et al. Relationship between the T-786C promoter polymorphism in the 5′-flanking region of the endothelial nitric oxide synthase (eNOS) gene and the onset of the retinal panphotocoagulation among type 1 diabetic patients with severe diabetic retinopathy. Diabetologia 2003; 46: A12: [Abstract OP28].
73. Warpeha KM, Ah-Fat F, Harding S et al. Dinucleotide repeat polymorphisms in EDN1 and NOS3 are not associated with severe diabetic retinopathy in type 1 or type 2 diabetes. Eye 1999; 13: 174-8.
74. Cai H, Wang X, Colagiuri S, Wilcken DE. A common Glu298->Asp (894G->T) mutation at exon 7 of the endothelial nitric oxide synthase gene and vascular complications in type 2 diabetes. Diabetes Care 1998; 21: 2195-6.
75. Sennlaub F, Courtois Y, Goureau O. Inducible nitric oxide synthase mediates the change from retinal to vitreal neovascularization in ischemic retinopathy. J Clin Invest 2001; 6: 717-25.
76. Tsukada T, Yokoyama K, Arai T et al. Evidence of association of the ecNOS gene polymorphism with plasma NO metabolite levels in humans. Biochem Biophys Res Commun, 1998; 245: 190-3.
77. Yoon S, Moon J, Shin C, Kim E, Jo SA, Jo I. Smoking status-dependent association of the 27-bp repeat polymorphism in intron 4 of endothelial nitric oxide synthase gene with plasma nitric oxide concentrations. Clin Chim Acta 2002; 324: 113-20.
78. Tsai DC, Chiou SH, Lee FL et al. Possible involvement of nitric oxide in the progression of diabetic retinopathy. Ophthalmologica 2003; 217: 342-6.
79. Hernandez C, Lecube A, Segura RM, Sararols L, Simo R. Nitric oxide and vascular endothelial growth factor concentrations are increased but not related in vitreous fluid of patients with proliferative diabetic retinopathy. Diabet Med 2002; 19: 655-60.
80. Witmer AN, Vrensen GF, Van Noorden CJ, Schlingemann RO. Vascular endothelial growth factors and angiogenesis in eye disease. Prog Retin Eye Res 2003; 22: 1-29.
81. Kim SY, Mocanu C, Mcleod DS et al. Expression of pigment epithelium-derived factor (PEDF) and vascular endothelial growth factor (VEGF) in sickle cell retina and choroid. Exp Eye Res 2003; 77: 433-45.
82. Caldwell RB, Bartoli M, Behzadian MA et al. Vascular endothelial growth factor and diabetic retinopathy: pathophysiological mechanisms and treatment perspectives. Diabetes Metab Res Rev 2003; 19: 442-55.
83. Yang B, Cross DF, Ollerenshaw M, Millward BA, Demaine AG. Polymorphisms of the vascular endothelial growth factor and susceptibility to diabetic microvascular complications in patients with type 1 diabetes mellitus. J Diabetes Complic 2003; 17: 1-6.
84. Rakoczy PE, Brankov M, Fonceca A, Zaknich T, Rae BC, Lai CM. Enhanced recombinant adeno-associated virus-mediated vascular endothelial growth factor expression in the adult mouse retina. Diabetes 2003; 52: 857-63.
85. Segawa Y, Shirao Y, Yamagishi S et al. Upregulation of retinal vascular endothelial growth factor mRNAs in spontaneously diabetic rats without ophtalmoscopic retinopathy. A possible participation of advanced glycation end products in the development of the early phase of diabetic retinopathy. Ophtalmic Res 1998; 30: 333-9.
86. Mathews MK, Merges C, McLeod DS, Lutty GA. Vascularendothelial growth factor and vascular permeability changes in human diabetic retinopathy. Invest Ophtalmol Vis Sci 1997; 38: 2729-41.
87. Ozaki H, Seo MS, Ozaki K et al. Blockade of vascular endothelial growth factor receptor signaling is sufficient to completely prevent retinal neovascularization. Am J Pathol 2000; 156: 697-707.
88. Rogus JJ, Warram JH, Krolewski AS. Genetic studies of late diabetic complications. The overlooked importance of diabetes duration before complication onset. Diabetes 2002; 51: 1655-62.
89. Mandarino LJ. Current hypothesis for the biochemical basis of diabetic retinopathy. Diabetes Care 1992; 15: 1892-901.
90. Masland RH. The fundamental plan of the retina. Nat Neurosci 2001; 4: 877-86.
91. Barber AJ, Lieth E, Khin SA, Antonetti DA, Buchanan AG, Gardner TW. Neural apoptosis in the retina during experimental and human diabetes. Early onset and effect of insulin. J Clin Invest 1998; 102: 783-91.
92. Aizu Y, Oyanagi K, Hu J, Nakagawa H. Degeneration of retinal neuronal processes and pigment epithelium in the early stage of the streptozotocin-diabetic rats. Neuropathology 2002; 22: 161-70.
93. Swaroop A, Zack DJ. Transcriptome analysis of the retina. Genome Biol 2002; 3: 1022.1-1022.4
94. Fujisawa T, Ikegami H, Kawaguchi Y et al. Meta-analysis of association of insertion/deletion polymorphism of angiotensin 1-converting enzyme gene with diabetic nephropathy and retinopathy. Diabetologia 1998; 41: 47-53.
95. Kanauchi M, Kawano T, Uyama H, Shiiki H, Dohi K. Discordance between retinopathy and nephropathy in type 2 diabetes. Nephron 1998; 80: 171-4.
96. Rippin JD, Patel A, Belyaev ND, Gill GV, Barnett AH, Bain SC. Nitric oxide synthase gene polymorphisms and diabetic nephropathy. Diabetologia 2003, 46: 426-8.
97. Chowers I, Gunatilaka TL, Farkas RH et al. Identification of novel genes preferentially expressed in the retina using a custom human retina cDNA microarray. Invest Ophthalmol Vis Sci 2003; 44: 3732-41.
98. Imperatore G, Hanson RL, Pettitt DJ, Kobes S, Bennett PH, Knowler WC. Sib-pair linkage analysis for susceptibility genes for microvascular complications among Pima Indians with type 2 diabetes. Pima Diabetes Genes Group. Diabetes 1998; 47: 821-30.
99. Zhu H, Bilgin M, Snyder M. Proteomics. Annu Rev Biochem 2003; 72: 783-812.
100. Yamane K, Minamoto A, Yamashita H et al. Proteome Analysis of Human Vitreous Proteins. Mol Cell Proteomics 2003; 2: 1177-87.