Common sequence variation in the VEGFA gene predicts risk of diabetic retinopathy

Investigative Ophthalmology and Visual Science

Volumn 50, Issue 12, 2009, Pages 5552-5558

  Abhary, Sotoodeh ^a   Burdon, Kathryn P ^a   Gupta, Aanchal ^b   Lake, Stewart ^a   Selva, Dinesh ^b   Petrovsky, Nikolai ^a   Craig, Jamie E ^a  

^a FLINDERS MEDICAL CENTRE   (Australia)

^b ROYAL ADELAIDE HOSPITAL   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

HEMOGLOBIN A1C; VASCULOTROPIN A; GLYCOSYLATED HEMOGLOBIN; HEMOGLOBIN A1C PROTEIN, HUMAN; VEGFA PROTEIN, HUMAN;

ADULT; ALLELE; ARTICLE; BLINDNESS; CONTROLLED STUDY; DIABETIC RETINOPATHY; DISEASE ASSOCIATION; DISEASE DURATION; DISEASE SEVERITY; FEMALE; GENE; GENE SEQUENCE; GENETIC MARKER; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HUMAN; INSULIN DEPENDENT DIABETES MELLITUS; MAJOR CLINICAL STUDY; MALE; NON INSULIN DEPENDENT DIABETES MELLITUS; PRIORITY JOURNAL; RETINA MACULA EDEMA; SINGLE NUCLEOTIDE POLYMORPHISM; VEGFA GENE; GENE LINKAGE DISEQUILIBRIUM; GENETICS; MIDDLE AGED; RISK FACTOR;

ADULT; BLINDNESS; DIABETES MELLITUS, TYPE 1; DIABETES MELLITUS, TYPE 2; DIABETIC RETINOPATHY; FEMALE; GENOTYPE; HEMOGLOBIN A, GLYCOSYLATED; HUMANS; LINKAGE DISEQUILIBRIUM; MALE; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE; RISK FACTORS; VASCULAR ENDOTHELIAL GROWTH FACTOR A;

EID: 73349129376     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.09-3694     Document Type: Article

References (57)

1. Stumvoll M, Goldstein BJ, van Haeften TW. Type 2 diabetes: principles of pathogenesis and therapy. Lancet. 2005;365:1333-1346.
2. Wild S, Roglic G, Green A, Sicree R, King H. Global prevalence of diabetes: estimates for the year 2000 and projections for 2030. Diabetes Care. 2004;27:1047-1053.
3. Soltesz G, Patterson CC, Dahlquist G. Worldwide childhood type 1 diabetes incidence: what can we learn from epidemiology? Pediatr Diabetes. 2007;8(suppl 6):6-14.
4. Moss SE, Klein R, Klein BE. The 14-year incidence of visual loss in a diabetic population. Ophthalmology. 1998;105:998-1003.
5. Weih LM, VanNewkirk MR, McCarty CA, Taylor HR. Age-specific causes of bilateral visual impairment. Arch Ophthalmol. 2000;118: 264-269.
6. Taylor HR, Keeffe JE. World blindness: a 21st century perspective. Br J Ophthalmol. 2001;85:261-266.
7. Stratton IM, Adler AI, Neil HA, et al. Association of glycaemia with macrovascular and microvascular complications of type 2 diabetes (UKPDS 35): prospective observational study. BMJ. 2000;321:405-412.
8. The relationship of glycemic exposure (HbA1c) to the risk of development and progression of retinopathy in the diabetes control and complications trial. Diabetes. 1995;44:968-983.
9. Klein R, Klein BE, Moss SE, Davis MD, DeMets DL. The Wisconsin epidemiologic study of diabetic retinopathy. III. Prevalence and risk of diabetic retinopathy when age at diagnosis is 30 or more years. Arch Ophthalmol. 1984;102:527-532.
10. Klein R, Klein BE, Moss SE, Davis MD, DeMets DL. The Wisconsin epidemiologic study of diabetic retinopathy. II. Prevalence and risk of diabetic retinopathy when age at diagnosis is less than 30 years. Arch Ophthalmol. 1984;102:520-526.
11. Mitchell P. Development and progression of diabetic eye disease in Newcastle (1977-1984): rates and risk factors. Aust N Z J Oph-thalmol. 1985;13:39-44.
12. Jerneld B, Algvere P. Relationship of duration and onset of diabetes to prevalence of diabetic retinopathy. Am J Ophthalmol. 1986; 102:431-437.
13. Rema M, Saravanan G, Deepa R, Mohan V. Familial clustering of diabetic retinopathy in South Indian Type 2 diabetic patients. Diabet Med. 2002;19:910-916.
14. Hallman DM, Huber JC Jr, Gonzalez VH, Klein BE, Klein R, Hanis CL. Familial aggregation of severity of diabetic retinopathy in Mexican Americans from Starr County, Texas. Diabetes Care. 2005;28:1163-1168.
15. Clustering of long-term complications in families with diabetes in the diabetes control and complications trial. The Diabetes Control and Complications Trial Research Group. Diabetes. 1997;46: 1829-1839.
16. Monti MC, Lonsdale JT, Montomoli C, Montross R, Schlag E, Green-berg DA. Familial risk factors for microvascular complications and differential male-female risk in a large cohort of American families with type 1 diabetes. J Clin Endocrinol Metab. 2007;92:4650-4655.
17. Aiello LP, Avery RL, Arrigg PG, et al. Vascular endothelial growth factor in ocular fluid of patients with diabetic retinopathy and other retinal disorders. N Engl J Med. 1994;331:1480-1487.
18. Ferrara N. Role of vascular endothelial growth factor in regulation of physiological angiogenesis. Am J Physiol Cell Physiol. 2001;280: C1358-C1366.
19. Schlingemann RO, van Hinsbergh VW. Role of vascular permeability factor/vascular endothelial growth factor in eye disease. Br J Ophthalmol. 1997;81:501-512.
20. Ribatti D. The crucial role of vascular permeability factor/vascular endothelial growth factor in angiogenesis: a historical review. Br J Haematol. 2005;128:303-309.
21. Qaum T, Xu Q, Joussen AM, et al. VEGF-initiated blood-retinal barrier breakdown in early diabetes. Invest Ophthalmol Vis Sci. 2001;42:2408-2413.
22. Aiello LP, Northrup JM, Keyt BA, Takagi H, Iwamoto MA. Hypoxic regulation of vascular endothelial growth factor in retinal cells. Arch Ophthalmol. 1995;113:1538-1544.
23. Aiello LP, Pierce EA, Foley ED, et al. Suppression of retinal neovascularization in vivo by inhibition of vascular endothelial growth factor (VEGF) using soluble VEGF-receptor chimeric proteins. Proc Natl Acad Sci USA. 1995;92:10457-10461.
24. Miller JW, Adamis AP, Shima DT, et al. Vascular endothelial growth factor/vascular permeability factor is temporally and spatially correlated with ocular angiogenesis in a primate model. Am J Pathol 1994;145:574-584.
25. Takagi H, Watanabe D, Suzuma K, et al. Novel role of erythropoietin in proliferative diabetic retinopathy. Diabetes Res Clin Pract 2007;77(suppl 1):S62-S64.
26. Adamis AP, Miller JW, Bernal MT, et al. Increased vascular endothelial growth factor levels in the vitreous of eyes with proliferative diabetic retinopathy. Am J Ophthalmol 1994;118:445-450.
27. Katsura Y, Okano T, Matsuno K, et al. Erythropoietin is highly elevated in vitreous fluid of patients with proliferative diabetic retinopathy. Diabetes Care. 2005;28:2252-2254.
28. Merlak M, Kovacevic D, Balog T, et al. Expression of vascular endothelial growth factor in proliferative diabetic retinopathy. Coll Antropol 2008;32(suppl 2):39-43
29. Kinnunen K, Puustjarvi T, Terasvirta M, et al. Differences between type 1 and type 2 diabetics in retinal neovascular tissue and vitreous humour. Br J Ophthalmol. 2009.
30. Sato H, Abe T, Wakusawa R, et al. Vitreous levels of vasohibin-1 and vascular endothelial growth factor in patients with proliferative diabetic retinopathy. Diabetologia. 2009;52:359-361.
31. Matsunaga N, Chikaraishi Y, Izuta H, et al. Role of soluble vascular endothelial growth factor receptor-1 in the vitreous in proliferative diabetic retinopathy. Ophthalmology. 2008;115:1916-1922.
32. Funatsu H, Noma H, Mimura T, Eguchi S, Hori S. Association of vitreous inflammatory factors with diabetic macular edema. Ophthalmology. 2009;116:73-79
33. Cohen MP, Hud E, Shea E, Shearman CW. Vitreous fluid of db/db mice exhibits alterations in angiogenic and metabolic factors consistent with early diabetic retinopathy. Ophthalmic Res. 2008;40: 5-9
34. 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;51:1635-1639
35. Watson CJ, Webb NJ, Bottomley MJ, Brenchley PE. Identification of polymorphisms within the vascular endothelial growth factor (VEGF) gene: correlation with variation in VEGF protein production. Cytokine. 2000;12:1232-1235
36. Renner W, Kotschan S, Hoffmann C, Obermayer-Pietsch B, Pilger E. A common 936 C/T mutation in the gene for vascular endothelial growth factor is associated with vascular endothelial growth factor plasma levels. J Vasc Res. 2000;37:443-448.
37. Al-Kateb H, Mirea L, Xie X, et al. Multiple variants in vascular endothelial growth factor (VEGFA) are risk factors for time to severe retinopathy in type 1 diabetes: the DCCT/EDIC genetics study. Diabetes. 2007;56:2161-2168.
38. Buraczynska M, Ksiazek P, Baranowicz-Gaszczyk I, Jozwiak L. Association of the VEGF gene polymorphism with diabetic retinopathy in type 2 diabetes patients. Nephrol Dial Transplant. 2007; 22:827-832.
39. Churchill A, Carter JG, Ramsden C, et al. VEGF polymorphisms are associated with severity of diabetic retinopathy. Invest Ophthalmol Vis Sci. 2008;49(8):3611-3616.
40. Awata T, Kurihara S, Takata N, et al. Functional VEGF C-634G polymorphism is associated with development of diabetic macular edema and correlated with macular retinal thickness in type 2 diabetes. Biochem Biophys Res Commun. 2005;333:679-685.
41. Nakamura S, Iwasaki N, Funatsu H, Kitano S, Iwamoto Y. Impact of variants in the VEGF gene on progression of proliferative diabetic retinopathy. Graefes Arch Clin Exp Ophthalmol. 2009;247(1):21-26.
42. Nakanishi K, Watanabe C. Single nucleotide polymorphisms of vascular endothelial growth factor gene intron 2 are markers for early progression of diabetic retinopathy in Japanese with type 1 diabetes. Clin Chim Acta. 2009;402:171-175.
43. Petrovic MG, Korosec P, Kosnik M, et al. Local and genetic determinants of vascular endothelial growth factor expression in advanced proliferative diabetic retinopathy. Mol Vis. 2008;14:1382-1387.
44. Suganthalakshmi B, Anand R, Kim R, et al. Association of VEGF and eNOS gene polymorphisms in type 2 diabetic retinopathy. Mol Vis. 2006;12:336-341.
45. Szaflik JP, Wysocki T, Kowalski M, et al. An association between vascular endothelial growth factor gene promoter polymorphisms and diabetic retinopathy. Graefes Arch Clin Exp Ophthalmol. 2008;246(1):39-43.
46. Uthra S, Raman R, Mukesh BN, et al. Association of VEGF gene polymorphisms with diabetic retinopathy in a south Indian cohort. Ophthalmic Genet. 2008;29:11-15.
47. 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 Complications. 2003;17:1-6.
48. Abhary S, Hewitt AW, Burdon KP, Craig JE. A systematic meta-analysis of genetic association studies for diabetic retinopathy. Diabetes. 2009;58:2137-2147.
49. Grading diabetic retinopathy from stereoscopic color fundus photographs: an extension of the modified Airlie House classification. ETDRS report number 10. Early Treatment Diabetic Retinop-athy Study Research Group. Ophthalmology. 1991;98:786-806.
50. Barrett JC, Fry B, Maller J, Daly MJ. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics. 2005;21:263-265.
51. The International HapMap Project. Nature. 2003;426:789-796.
52. Stankovich J, Cox CJ, Tan RB, et al. On the utility of data from the International HapMap Project for Australian association studies. Hum Genet. 2006;119:220-222.
53. Sole X, Guino E, Valls J, Iniesta R, Moreno V. SNPStats: a web tool for the analysis of association studies. Bioinformatics. 2006;22: 1928-1929.
54. Schaid DJ, Rowland CM, Tines DE, Jacobson RM, Poland GA. Score tests for association between traits and haplotypes when linkage phase is ambiguous. Am J Hum Genet. 2002;70:425-434.
55. Gabriel SB, Schaffner SF, Nguyen H, et al. The structure of haplo-type blocks in the human genome. Science. 2002;296:2225-2229.
56. Nyholt DR. A simple correction for multiple testing for single-nucleotide polymorphisms in linkage disequilibrium with each other. Am J Hum Genet. 2004;74:765-769.
57. Li J, Ji L. Adjusting multiple testing in multilocus analyses using the eigenvalues of a correlation matrix. Heredity. 2005;95:221-227.