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

Biochimica et Biophysica Acta - Molecular Basis of Disease

Volumn 1639, Issue 1, 2003, Pages 1-7

  Yang, B ^a   Millward, A ^a   Demaine, A ^a  

^a PENINSULA MEDICAL SCHOOL   (United Kingdom)

Author keywords

Aldose reductase gene; Diabetic microvascular complication; Hyperglycaemia; Hypertonicity; Polyol pathway

Indexed keywords

ALDEHYDE REDUCTASE;

ALLELE; ARTICLE; BASE PAIRING; COMPARATIVE STUDY; DIABETES MELLITUS; DISEASE PREDISPOSITION; DNA POLYMORPHISM; GENETIC SUSCEPTIBILITY; GENETIC TRANSCRIPTION; GENETIC TRANSFECTION; HAPLOTYPE; HUMAN; HUMAN CELL; IN VITRO STUDY; MICROANGIOPATHY; PRIORITY JOURNAL; PROMOTER REGION; PROTECTION; REPORTER GENE;

EID: 0041965830     PISSN: 09254439     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0925-4439(03)00095-4     Document Type: Article

References (29)

1. Ko B.C.B., Lam K.S.L., Wat N.M.S., Chung S.S.M. 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. 44:1995;727-732.
2. Heesom A.E., Hibberd M.L., Millward B.A., Demaine A.G. Polymorphism in the 5′-end of the aldose reductase gene is strongly associated with the development of diabetic nephropathy in type 1 diabetes. Diabetes. 46:1997;287-291.
3. Heesom A.E., Millward B.A., Demaine A.G. Susceptibility to diabetic neuropathy in patients with insulin dependent diabetes mellitus is associated with a polymorphism at the 5′ end of the aldose reductase gene. J. Neurol. Neurosurg. Psychiatry. 64:1998;213-216.
4. Kao Y.L., Donaghue K., Chan A., Khight 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. 48:1999;1338-1340.
5. 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. 65:1999;2061-2070.
6. Liu Y.F., Wat N.M.S., Chung S.S.M., Ko B.C., Lam K.S. Diabetic nephropathy is associated with the 5′-end dinucleotide repeat polymorphism of the aldose reductase gene in Chinese subjects with type 2 diabetes. Diabet. Med. 19:2002;113-118.
7. Shah V.O., Dorin R.I., Sun Y., Braun M., Zager P.G. Aldose reductase gene expression is increased in diabetic nephropathy. J. Clin. Endocrinol. Metab. 82:1997;2294-2298.
8. Nishimura C., Saito T., Ito T., Omori Y., Tanimoto T. High levels of erythrocyte aldose reductase and diabetic retinopathy in NIDDM patients. Diabetologia. 37:1994;328-330.
9. Hasegawa G., Obayashi H., Kitamura A., Hashimoto M., Shigeta H., Nakamura N., Kondo M., Nishimura C.Y. Increased levels of aldose reductase in peripheral mononuclear cells from type 2 diabetic patients with microangiopathy. Diabetes Res. Clin. Pract. 45:1999;9-14.
10. Shimizu H., Ohtani K.I., Tsuchiya T., Sato N., Tanaka Y., Takahashi H., Uehara Y., Inukai T., Mori M. Aldose reductase mRNA expression is associated with rapid development of diabetic microangiopathy in Japanese type 2 diabetic (T2DM) patients. Diabet. Nutr. Metab. 13:2000;75-79.
11. Shah V.O., Scavini M., Nikolic J., Sun Y., Vai S., Griffith J.K., Dorin R.I., Stidley C., Yacoub M., Vander Jagt D.L., Eaton R.P., Zager P.G. Z-2 microsatellite allele is linked to increased expression of the aldose reductase gene in diabetic nephropathy. J. Clin. Endocrinol. Metab. 83:1998;2886-2891.
12. Hodgkinson A.D., Sondergaard K.L., Yang B., Cross D.F., Millward B.A., Deamine A.G. Aldose reductase expression is induced by hyperglycaemia in diabetic nephropathy. Kidney Int. 60:2001;211-218.
13. Demaine A., Cross D., Millward A. Polymorphisms of the aldose reductase gene and susceptibility to retinopathy in type 1 diabetes mellitus. Investig. Ophthalmol. Vis. Sci. 41:2000;4064-4068.
14. Neamat-Allah M., Feeney S.A., Savage D.A., Maxwell A.P., Hanson R.L., Knowles W.C., El Nahas A.M., Plater M.E., Shaw J., Boulton A.J.M., Duff G.W., Cox A. Analysis of the association between diabetic nephropathy and polymorphisms in the aldose reductase gene in type 1 and type 2 diabetes mellitus. Diabet. Med. 18:2001;906-914.
15. Moczulski D.K., Scott L., Antonellis A., Rogus J.J., Rich S.S., Warram J.H., Krolewski A.S. Aldose reductase gene polymorphisms and susceptibility to diabetic nephropathy in type 1 diabetes mellitus. Diabet. Med. 17:2000;111-118.
16. 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. 16:1999;744-748.
17. Olmos P., Futers S., Acosta A.M., Siegel S., Schiaffino R., Morales P., Diaz R., Arriagada P., Claro J.C., Vega R., Vollrath V., Velasco S., Emmerich M. (AC)23 [Z-2] polymorphism of the aldose reductase gene and fast progression of retinopathy in Chilean type 2 diabetics. Diabetes Res. Clin. Pract. 47:2000;169-176.
18. Zou X., Lu J., Pan C. Effects of polymorphism of (AC)n in the 5′ terminal of the aldose reductase gene on aldose reductase activity in patients with type 2 diabetes mellitus. Chin. J. Endocrinol. Metab. 16:2000;346-349.
19. Wang K., Bohren K.M., Gabbay K.H. Characterization of the human aldose reductase gene promoter. J. Biol. Chem. 268:1993;16052-16058.
20. Ruepp B., Bohren K.M., Gabbay K.H. Characterization of the osmotic response element of the human aldose reductase gene promoter. Proc. Natl. Acad. Sci. U. S. A. 93:1996;8624-8629.
21. Nadkarni V., Gabbay K.H., Bohren K.M., Sheikh-Hamad D. Osmotic response element enhancer activity: regulation through p38 kinase and mitogen-activated extracellular signal-regulated kinase kinase. J. Biol. Chem. 274:1999;20185-20190.
22. Ferraris J.D., Williams C.K., Persaud P., Zhang Z., Chen Y., Burg M.B. Activity of the TonEBP/OREBP transactivation domain varies directly with extracellular NaCl concentration. Proc. Natl. Acad. Sci. U. S. A. 99:2002;739-744.
23. Stevens M.J., Killen P., Wang P., Larkin D.D., Greene D.A. Overexpression of aldose reductase (AR) in human retinal pigment epithelial (RPE) cell lines is associated with a polymorphism in the AR basal promoter region. Diabetes. 49(Suppl. 1):2000;A167. (Abstract).
24. Akai J., Kimura A., Hata R.I. Transcriptional regulation of the human type 1 collagen-(2 (COL1A2) gene by the combination of two dinucleotide repeats. Gene. 239:1999;65-73.
25. Fornoni A., Wang Y., Lenz O., Striker L.J., Striker G.E. Association of a decreased number of d(CA) repeats in the matrix metalloproteinase-9 promoter with glomerulosclerosis susceptibility in mice. J. Am. Soc. Nephrol. 13:2002;2068-2076.
26. Maeda S., Haneda M., Guo B., Koya D., Hayashi K., Sugimoto T., Isshiki K., Yasuda H., Kashiwagi A., Kikkawa R. Dinucleotide repeat polymorphism of matrix metalloproteinase-9 gene is associated with diabetic nephropathy. Kidney Int. 60:2001;1428-1434.
27. Tripathi J., Brahmachari S.K. Distribution of simple repetitive (TG/CA)n and (CT/AG)n sequences in human and rodent genomes. J. Biomol. Struct. Dyn. 9:1991;387-397.
28. Lavery R., Hartmann B. Modelling DNA conformational mechanics. Biophys. Chem. 50:1994;33-45.
29. Maekawa K., Tanimoto T., Okada S., Suzuki T., Suzuki T., Yabe-Nishimura C. Expression of aldose reductase and sorbitol dehydrogenase genes in Schwann cells isolated from rats: effects of high glucose and osmotic stress. Mol. Brain Res. 87:2001;251-256.