Pharmacogenomics and the prevention of vascular complications in diabetes mellitus

Therapy

Volumn 6, Issue 4, 2009, Pages 531-538

  Farbstein, Dan ^a   Levy, Andrew P ^a  

^a TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

Author keywords

ACE; ARB; Diabetes; Haptoglobin; Metformin; Pharmacogenetics; Pharmacogenomics; Statins; Thiazolidinediones; Vitamin E

Indexed keywords

2,4 THIAZOLIDINEDIONE DERIVATIVE; ADIPONECTIN; ALPHA TOCOPHEROL; ANTIHYPERTENSIVE AGENT; APOLIPOPROTEIN E; APOLIPOPROTEIN E2; APOLIPOPROTEIN E4; DIPEPTIDYL CARBOXYPEPTIDASE INHIBITOR; GLUCOSE; HAPTOGLOBIN; HEMOGLOBIN A1C; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE INHIBITOR; LIPOPROTEIN LIPASE; METFORMIN; OCTAMER TRANSCRIPTION FACTOR 1; OCTAMER TRANSCRIPTION FACTOR 2; PERILIPIN; PEROXISOME PROLIFERATOR ACTIVATED RECEPTOR GAMMA;

ALBUMINURIA; AREA UNDER THE CURVE; CARDIOVASCULAR DISEASE; CLINICAL TRIAL; DIABETES MELLITUS; DRUG ACTIVITY; DRUG METABOLISM; GENE DELETION; GENE INSERTION; GENETIC POLYMORPHISM; GENOTYPE; GLYCOSYLATION; HUMAN; IN VITRO STUDY; IN VIVO STUDY; LIPOPHILICITY; MAXIMUM PLASMA CONCENTRATION; MORBIDITY; MORTALITY; NONHUMAN; OXIDATIVE STRESS; PHARMACOGENOMICS; PROTEIN BINDING; PROTEINURIA; REVIEW; TREATMENT RESPONSE;

EID: 70449584550     PISSN: 14750708     EISSN: 1744831X     Source Type: Journal    
DOI: 10.2217/thy.09.23     Document Type: Review

References (59)

1. Levy AP: Application of pharmacogenomics in the prevention of diabetic cardiovascular disease: mechanistic basis and clinical evidence for utilization of the haptoglobin genotype in determining benefit from antioxidant therapy. Pharmacol. Ther. 112, 501-512 (2006).
2. Donnelly LA, Palmer CN, Whitley AL et al.: Apolipoprotein E genotypes are associated with lipid-lowering responses to statin treatment in diabetes: a Go-DARTS study. Pharmacogenet. Genomics 18, 279-287 (2008).
3. Schmitz G, Langmann T: Pharmacogenomics of cholesterol-lowering therapy. Vascul. Pharmacol. 44, 75-89 (2006). ■ Comprehensive review of the pharmacogenetics of statin therapy.
4. Tavintharan S, Lim SC, Chan YH, Sum CF: Apolipoprotein E genotype affects the response to lipid-lowering therapy in Chinese patients with Type 2 diabetes mellitus. Diabetes Obes. Metab. 9, 81-86 (2007).
5. van Venrooij FV, Stolk RP, Banga JD et al.: Common cholesteryl ester transfer protein gene polymorphisms and the effect of atorvastatin therapy in Type 2 diabetes. Diabetes Care 26, 1216-1223 (2003).
6. Kuivenhoven JA, Jukema JW, Zwinderman AH et al.: The role of a common variant of the cholesteryl ester transfer protein gene in the progression of coronary atherosclerosis. The Regression Growth Evaluation Statin Study Group. N. Engl. J. Med. 338, 86-93 (1998).
7. Aquilante CL: Pharmacogenetics of thiazolidinedione therapy. Pharmacogenomics 8, 917-931 (2007).
8. Gurnell M: PPARg and metabolism: insights from the study of human genetic variants. Clin. Endocrinol. (Oxf) 59, 267-277 (2003).
9. Ludovico O, Pellegrini F, Di Paola R et al.: Heterogeneous effect of peroxisome proliferator-activated receptor γ2 Ala12 variant on Type 2 diabetes risk. Obesity (Silver Spring) 15, 1076-1081 (2007).
10. Tonjes A, Scholz M, Loeffler M, Stumvoll M: Association of Pro12Ala polymorphism in peroxisome proliferator-activated receptor γ with Pre-diabetic phenotypes: metaanalysis of 57 studies on nondiabetic individuals. Diabetes Care 29, 2489-2497 (2006).
11. Florez JC, Jablonski KA, Sun MW et al.: Effects of the Type 2 diabetes-associated PPARG P12A polymorphism on progression to diabetes and response to troglitazone. J. Clin. Endocrinol. Metab. 92, 1502-1509 (2007).
12. Bluher M, Lubben G, Paschke R: Analysis of the relationship between the Pro12Ala variant in the PPAR-γ2 gene and the response rate to therapy with pioglitazone in patients with Type 2 diabetes. Diabetes Care 26, 825-831 (2003).
13. Snitker S, Watanabe RM, Ani I et al.: Changes in insulin sensitivity in response to troglitazone do not differ between subjects with and without the common, functional Pro12Ala peroxisome proliferator-activated receptor-γ2 gene variant: results from the Troglitazone in Prevention of Diabetes (TRIPOD) study. Diabetes Care 27, 1365-1368 (2004).
14. Winkelmann BR, Nauck M, Klein B et al.: Deletion polymorphism of the angiotensin I-converting enzyme gene is associated with increased plasma angiotensin-converting enzyme activity but not with increased risk for myocardial infarction and coronary artery disease. Ann. Intern. Med. 125, 19-25 (1996).
15. van Essen GG, Rensma PL, de Zeeuw D et al.: Association between angiotensinconverting-enzyme gene polymorphism and failure of renoprotective therapy. Lancet 347, 94-95 (1996).
16. Parving HH, Jacobsen P, Tarnow L et al.: Effect of deletion polymorphism of angiotensin converting enzyme gene on progression of diabetic nephropathy during inhibition of angiotensin converting enzyme: observational follow up study. BMJ 313, 591-594 (1996).
17. Penno G, Chaturvedi N, Talmud PJ et al.: Effect of angiotensin-converting enzyme (ACE) gene polymorphism on progression of renal disease and the influence of ACE inhibition in IDDM patients: findings from the EUCLID Randomized Controlled Trial. EURODIAB Controlled Trial of Lisinopril in IDDM. Diabetes 47, 1507-1511 (1998).
18. Jacobsen P, Rossing K, Rossing P et al.: Angiotensin converting enzyme gene polymorphism and ACE inhibition in diabetic nephropathy. Kidney Int. 53, 1002-1006 (1998).
19. Yoshida H, Mitarai T, Kawamura T et al.: Role of the deletion of polymorphism of the angiotensin converting enzyme gene in the progression and therapeutic responsiveness of IgA nephropathy. J. Clin. Invest. 96, 2162-2169 (1995).
20. van der Kleij FG, Navis GJ, Gansevoort RT et al.: ACE polymorphism does not determine short-term renal response to ACE-inhibition in proteinuric patients. Nephrol. Dial. Transplant. 12(Suppl. 2), 42-46 (1997).
21. Ha SK, Yong Lee S, Su Park H et al.: ACE DD genotype is more susceptible than ACE II and ID genotypes to the antiproteinuric effect of ACE inhibitors in patients with proteinuric non-insulin-dependent diabetes mellitus. Nephrol. Dial. Transplant. 15, 1617-1623 (2000).
22. Andersen S, Tarnow L, Cambien F et al.: Long-term renoprotective effects of losartan in diabetic nephropathy: interaction with ACE insertion/deletion genotype? Diabetes Care 26, 1501-1506 (2003). ■ First trial to show that the pharmacogenetics of angiotensin receptor blockers differs from that of angiotensin-converting enzyme inhibitors.
23. Andersen S, Tarnow L, Cambien F et al.: Renoprotective effects of losartan in diabetic nephropathy: interaction with ACE insertion/ deletion genotype? Kidney. Int. 62, 192-198 (2002).
24. Kirpichnikov D, McFarlane SI, Sowers JR: Metformin: an update. Ann. Intern. Med. 137, 25-33 (2002).
25. Zhou G, Myers R, Li Y et al.: Role of AMP-activated protein kinase in mechanism of metformin action. J. Clin. Invest. 108, 1167-1174 (2001).
26. Takane H, Shikata E, Otsubo K, Higuchi S, Ieiri I: Polymorphism in human organic cation transporters and metformin action. Pharmacogenomics 9, 415-422 (2008).
27. Wang DS, Jonker JW, Kato Y, Kusuhara H, Schinkel AH, Sugiyama Y: Involvement of organic cation transporter 1 in hepatic and intestinal distribution of metformin. J. Pharmacol. Exp. Ther. 302, 510-515 (2002).
28. Shu Y, Brown C, Castro RA et al.: Effect of genetic variation in the organic cation transporter 1, OCT1, on metformin pharmacokinetics. Clin. Pharmacol. Ther. 83, 273-280 (2008).
29. Shu Y, Sheardown SA, Brown C et al.: Effect of genetic variation in the organic cation transporter 1 (OCT1) on metformin action. J. Clin. Invest. 117, 1422-1431 (2007). ■ Shows the potential pharmacogenetic relationship between metformin and OCT1.
30. Shikata E, Yamamoto R, Takane H et al.: Human organic cation transporter (OCT1 and OCT2) gene polymorphisms and therapeutic effects of metformin. J. Hum. Genet. 52, 117-122 (2007).
31. Song IS, Shin HJ, Shim EJ et al.: Genetic variants of the organic cation transporter 2 influence the disposition of metformin. Clin. Pharmacol. Ther. 84, 559-562 (2008). ■ Shows the effect of OCT2 on the pharmacokinetics of metformin and not 1-methyl-4-phenylpyridinium (MPP+).
32. Bowman BH, Kurosky A: Haptoglobin: the evolutionary product of duplication, unequal crossing over, and point mutation. Adv. Hum. Genet. 12, 189-261, 453-454 (1982).
33. Sadrzadeh SM, Graf E, Panter SS, Hallaway PE, Eaton JW: Hemoglobin. A biologic fenton reagent. J. Biol. Chem. 259, 14354-14356 (1984).
34. Miller YI, Altamentova SM, Shaklai N: Oxidation of low-density lipoprotein by hemoglobin stems from a heme-initiated globin radical: antioxidant role of haptoglobin. Biochemistry 36, 12189-12198 (1997).
35. Melamed-Frank M, Lache O, Enav BI et al.: Structure-function analysis of the antioxidant properties of haptoglobin. Blood 98, 3693-3698 (2001).
36. Garby L, Noyes WD: Studies on hemoglobin metabolism. I. The kinetic properties of the plasma hemoglobin pool in normal man. J. Clin. Invest. 38, 1479-1483 (1959).
37. Kristiansen M, Graversen JH, Jacobsen C et al.: Identification of the haemoglobin scavenger receptor. Nature 409, 198-201 (2001).
38. Langlois MR, Delanghe JR: Biological and clinical significance of haptoglobin polymorphism in humans. Clin. Chem. 42, 1589-1600 (1996).
39. Asleh R, Guetta J, Kalet-Litman S, Miller-Lotan R, Levy AP: Haptoglobin genotype- and diabetes-dependent differences in iron-mediated oxidative stress in vitro and in vivo. Circ. Res. 96, 435-441 (2005).
40. Levy AP, Purushothaman KR, Levy NS et al.: Downregulation of the hemoglobin scavenger receptor in individuals with diabetes and the Hp 2-2 genotype: implications for the response to intraplaque hemorrhage and plaque vulnerability. Circ. Res. 101, 106-110 (2007).
41. Timmermann M, Hogger P: Oxidative stress and 8-iso-prostaglandin F(2a) induce ectodomain shedding of CD163 and release of tumor necrosis factor-a from human monocytes. Free Radic. Biol. Med. 39, 98-107 (2005).
42. Asleh R, Marsh S, Shilkrut M et al.: Genetically determined heterogeneity in hemoglobin scavenging and susceptibility to diabetic cardiovascular disease. Circ. Res. 92, 1193-1200 (2003).
43. Spagnuolo MS, Cigliano L, D'Andrea LD, Pedone C, Abrescia P: Assignment of the binding site for haptoglobin on apolipoprotein A-I. J. Biol. Chem. 280, 1193-1198 (2005).
44. Asleh R, Blum S, Kalet-Litman S et al.: Correction of HDL dysfunction in individuals with diabetes and the haptoglobin 2-2 genotype. Diabetes 57, 2794-2800 (2008). ■■ Demonstration of the ability of vitamin E to correct high-density lipoprotein dysfunction in Hp2-2 mice and humans.
45. Asleh R, Miller-Lotan R, Aviram M et al.: Haptoglobin genotype is a regulator of reverse cholesterol transport in diabetes in vitro and in vivo. Circ. Res. 99, 1419-1425 (2006).
46. Miller-Lotan R, Herskowitz Y, Kalet-Litman S et al.: Increased renal hypertrophy in diabetic mice genetically modified at the haptoglobin locus. Diabetes. Metab. Res. Rev. 21, 332-337 (2005).
47. Miller-Lotan R, Miller B, Nakhoul F, Aronson D, Asaf R, Levy AP: Retinal capillary basement membrane thickness in diabetic mice genetically modified at the haptoglobin locus. Diabetes. Metab. Res. Rev. 23, 152-156 (2007).
48. Levy AP, Levy JE, Kalet-Litman S et al.: Haptoglobin genotype is a determinant of iron, lipid peroxidation, and macrophage accumulation in the atherosclerotic plaque. Arterioscler. Thromb. Vasc. Biol. 27, 134-140 (2007).
49. Blum S, Asaf R, Guetta J et al.: Haptoglobin genotype determines myocardial infarct size in diabetic mice. J. Am. Coll. Cardiol. 49, 82-87 (2007).
50. Ceriello A: Oxidative stress and diabetesassociated complications. Endocr. Pract. 12(Suppl. 1), 60-62 (2006).
51. Milman U, Blum S, Shapira C et al.: Vitamin E supplementation reduces cardiovascular events in a subgroup of middle-aged individuals with both Type 2 diabetes mellitus and the haptoglobin 2-2 genotype: a prospective double-blinded clinical trial. Arterioscler. Thromb. Vasc. Biol. 28, 341-347 (2008). ■■ This clinical trial demonstrates the ability of vitamin E to reduce diabetes mellitusassociated cardiovascular disease among Hp 2-2 individuals.
52. Levy AP, Gerstein HC, Miller-Lotan R et al.: The effect of vitamin E supplementation on cardiovascular risk in diabetic individuals with different haptoglobin phenotypes. Diabetes Care 27, 2767 (2004).
53. Kang ES, Cha BS, Kim HJ et al.: The 11482G>A polymorphism in the perilipin gene is associated with weight gain with rosiglitazone treatment in Type 2 diabetes. Diabetes Care 29, 1320-1324 (2006).
54. Kang ES, Park SY, Kim HJ et al.: The influence of adiponectin gene polymorphism on the rosiglitazone response in patients with Type 2 diabetes. Diabetes Care 28, 1139-1144 (2005).
55. Wang G, Wang X, Zhang Q, Ma Z: Response to pioglitazone treatment is associated with the lipoprotein lipase S447X variant in subjects with Type 2 diabetes mellitus. Int. J. Clin. Pract. 61, 552-557 (2007).
56. Levy AP, Hochberg I, Jablonski K et al.: Haptoglobin phenotype is an independent risk factor for cardiovascular disease in individuals with diabetes: the Strong Heart Study. J. Am. Coll. Cardiol. 40, 1984-1990 (2002).
57. Suleiman M, Aronson D, Asleh R et al.: Haptoglobin polymorphism predicts 30-day mortality and heart failure in patients with diabetes and acute myocardial infarction. Diabetes 54, 2802-2806 (2005).
58. Roguin A, Koch W, Kastrati A, Aronson D, Schomig A, Levy AP: Haptoglobin genotype is predictive of major adverse cardiac events in the 1-year period after percutaneous transluminal coronary angioplasty in individuals with diabetes. Diabetes Care 26, 2628-2631 (2003).
59. Costacou T, Ferrell RE, Orchard TJ: Haptoglobin genotype: a determinant of cardiovascular complication risk in Type 1 diabetes. Diabetes 57, 1702-1706 (2008).