Diabetic retinopathy: Validation study of ALR2, RAGE, iNOS and TNFB gene variants in a south Indian cohort

Ophthalmic Genetics

Volumn 31, Issue 4, 2010, Pages 244-251

  Uthra, Satagopan ^a   Raman, Rajiv ^b   Mukesh, Bickol N ^c   Rajkumar, Samuel A ^a   Kumari, Padmaja ^b   Lakshmipathy, Praveena ^a   Gnanamoorthy, Perumal ^a   Sharma, Tarun ^b   McCarty, Catherine A ^c   Kumaramanickavel, Govindasamy ^a  

^a MEDICAL RESEARCH FOUNDATION   (India)

^b Research Foundation   (India)

^c MARSHFIELD CLINIC   (United States)

Author keywords

Diabetic retinopathy; gene variations; south india; T2DM

Indexed keywords

ADVANCED GLYCATION END PRODUCT RECEPTOR; ALDEHYDE REDUCTASE; GENOMIC DNA; HEMOGLOBIN A1C; INDUCIBLE NITRIC OXIDE SYNTHASE; LYMPHOTOXIN;

ADULT; AGED; ARTICLE; CLINICAL EXAMINATION; DIABETIC RETINOPATHY; DINUCLEOTIDE REPEAT; DISEASE DURATION; DNA EXTRACTION; EXON; FEMALE; GENE FREQUENCY; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE; HUMAN; INDIA; MALE; MICROALBUMINURIA; NON INSULIN DEPENDENT DIABETES MELLITUS; PRIORITY JOURNAL; VALIDATION STUDY;

AGED; ALDEHYDE REDUCTASE; ASIAN CONTINENTAL ANCESTRY GROUP; DIABETIC RETINOPATHY; DNA PRIMERS; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENETIC VARIATION; GENOTYPE; HUMANS; INDIA; LYMPHOTOXIN-ALPHA; MALE; MIDDLE AGED; NITRIC OXIDE SYNTHASE TYPE II; RECEPTORS, IMMUNOLOGIC;

EID: 78649263405     PISSN: 13816810     EISSN: 17445094     Source Type: Journal    
DOI: 10.3109/13816810.2010.523037     Document Type: Article

References (31)

1. Wild S, Roglic G, Green A, Sicree R, et al. Global prevalence of diabetes. estimates for the year 2000 and projections for 2030. Diabetes Care 2004;27:5.
2. Brownlee M. Biochemistry and molecular cell biology of diabetic complications. Nature 2001;414:813-820.
3. Shah VO, Scavini M, Nikolic J, et al. Z22 microsatellite allele is linked to increased expression of the aldose reductase gene in diabetic nephropathy. J Clin Endocrinol Metab 1998;83:2886-2891.
4. Ikegishi Y, Tawata M, Aida K, et al.Z-4 allele upstream of the aldose reductase gene is associated with prolifera-tive retinopathy in Japanese patients with NIDDM, and elevated luciferase gene transcription in vitro. Life Sci. 1999;65(20):2061-70.
5. Zheng L, Du Y, Miller C, et al. Critical role of inducible nitric oxide synthase in degeneration of retinal capillaries in mice with streptozotocin-induced diabetes. Diabetologia, 2007;50:1987-1996.
6. Krady JK, Basu A, Allen CM, et al. Minocycline reduces proinfammatory cytokine expression, microglial activation, and caspase-3 activation in a rodent model of diabetic retinopathy. Diabetes 2005;54:1559-1565.
7. Kumaramanickavel G, Sripriya S, Ramprasad VL, et al. Z-2 aldose reductase allele and diabetic retinopathy in India. Ophthalmic Genet. 2003;24(1):41-8.
8. Kumaramanickavel G, Ramprasad VL, Sripriya S, et al. Association of Gly82Ser polymorphism in the RAGE gene with diabetic retinopathy in type II diabetic Asian Indian patients. J Diabetes Complications. 2002;16(6):391-4.
9. Kumaramanickavel G, Sripriya S, Vellanki RN, et al. Inducible nitric oxide synthase gene and diabetic retin-opathy in Asian Indian patients Clinical Genetics 2002;61(5):344-8.
10. Kumaramanickavel G, Sripriya S, Vellanki RN, et al. Tumor necrosis factor allelic polymorphism with diabetic retinopa-thy in India. Diabetes Res Clin Pract 2001;54(2):89-94.
11. Uthra S, Raman R, Mukesh BN, et al. Intron 4 VNTR of endothelial nitric oxide synthase (eNOS) gene and diabetic retinopathy in type 2 patients in southern India. Ophthalmic Genet 2007;28(2):77-81.
12. Uthra S, Raman R, Mukesh BN, et al. Diabetic retin-opathy and IGF-1 gene polymorphic cytosine-adenine repeats in a southern Indian cohort. Ophthalmic Res 2007;39(5):294-299.
13. 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(1):11-15.
14. Rani PK, Raman R, Agarwal S, et al. Diabetic retinopathy screening model for rural population: awareness and screening methodology. Rural Remote Health. 2005;5(4):350.
15. Agarwal S, Raman R, Paul PG, et al. Sankara Nethralaya-Diabetic Retinopathy Epidemiology and Molecular Genetic Study (SN-DREAMS 1): Study design and research methodology. Ophthalmic Epidemiol. 2005;12(2):143-53.
16. Klein R, Klein BEK, Magli YL, et al. An alternative method of grading diabetic retinopathy. Ophthalmology 1986;93:1183-1187.
17. World Medical Organization. Declaration of Helsinki. Br Med J. 1996; 313(7070):1448-1449.
18. Wolff R, Gemmil R. Purifying and analyzing genomic DNA. Bruce B, Green, P. Hieter, S. Klaplholz, R.M. Meyers, H. Riethman, J. Roskans, (eds): Genome analysis A laboratory manual. vol 4. New York. Cold Spring Harbor Laboratory Press (1998);1-82.
19. Tsuchiya N, Wang L, Horikawa Y, et al. CA repeat polymorphism in the insulin-like growth factor-I gene is associated with increased risk of prostate cancer and benign prostatic hyperplasia. Int J Oncology 2005;26:225-231.
20. 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;41:4064-4068.
21. 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(8):2410-5.
22. Lajer M, Tarnow L, Flecknert J, et al. Association of aldose reductase gene Z+2 polymorphism with reduced susceptibility to diabetic nephropathy in Caucasian Type 1 diabetic patients. Diabetic Medicine, 2004;21(8):867-873.
23. Richeti F, Noronha RM, Waetge RT, et al. Evaluation of AC(n) and C(-106)T polymorphisms of the aldose reductase gene in Brazilian patients with DM1 and susceptibility to diabetic retinopathy. Mol Vis. 2007 23;13:740-5.
24. 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.
25. Kankova K, Vasku A, Hajek D, et al. Association of G82S polymorphism in the RAGE gene with skin complications in type 2 diabetes. Diabetes Care. 1999;22(10):1745.
26. Kankova K, Zahejsky J, Marova I, et al. Polymorphisms in the RAGE gene infuence susceptibility to diabetes-associated microvascular dermatoses in NIDDM. J Diabetes Complications 2001;15(4):185-92.
27. Prevost G, Fajardy I, Besmond C, et al. Polymorphisms of the receptor of advanced glycation endproducts (RAGE) and the development of nephropathy in type 1 diabetic patients. Diabetes Metab 2005;31(1):35-9.
28. Ramprasad S, Radha V, Mathias RA, et al. RAGE gene promoter polymorphisms and diabetic retinopathy in a clinic-based population from South India. Eye 2007;21(3):395-401.
29. Kaise M, Miwa J, Suzuki N, et al. Inducible nitric oxide synthase gene promoter polymorphism is associated with increased gastric mRNA expression of inducible nitric oxide synthase and increased risk of gastric carcinoma. Eur J Gastroenterol Hepatol. 2007;19(2):139-45.
30. Hawrami K, Hitman GA, Rema M, et al. An association in non-insulin-dependent diabetes mellitus subjects between susceptibility to retinopathy and tumor necrosis factor polymorphism. Hum Immunol 1996;46(1):49-54.
31. Ioannidis JPA, Trikalinos TA, Khoury MJ. Implications of small effect sizes of individual genetic variants on the design and interpretation of genetic association studies of complex diseases. Am J Epidemiol 2006;164:609-614.