Sulfonylurea pharmacogenomics in Type 2 diabetes: The influence of drug target and diabetes risk polymorphisms

Expert Review of Cardiovascular Therapy

Volumn 8, Issue 3, 2010, Pages 359-372

  Aquilante, Christina L ^a  

^a UNIVERSITY OF COLORADO   (United States)

Author keywords

Drug target; KCNJ11; Pharmacogenomic; Sulfonylurea; SUR1; TCF7L2; Type 2 diabetes

Indexed keywords

ACETOHEXAMIDE; ALLOPURINOL; CHLORAMPHENICOL; CHLORPROPAMIDE; CYTOCHROME P450 2C9; FIBRIC ACID DERIVATIVE; GLIBENCLAMIDE; GLICLAZIDE; GLIMEPIRIDE; GLIPIZIDE; INSULIN RECEPTOR SUBSTRATE 1; INWARDLY RECTIFYING POTASSIUM CHANNEL SUBUNIT KIR6.1; INWARDLY RECTIFYING POTASSIUM CHANNEL SUBUNIT KIR6.2; METFORMIN; MONOAMINE OXIDASE INHIBITOR; NITRIC OXIDE SYNTHASE; NITRIC OXIDE SYNTHASE 1 ADAPTOR PROTEIN; PHENYLBUTAZONE; PROBENECID; RIFAMPICIN; ROSIGLITAZONE; SULFONAMIDE; SULFONYLUREA DERIVATIVE; SULFONYLUREA RECEPTOR 1; TOLAZAMIDE; TOLBUTAMIDE; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR TCFL2; UNCLASSIFIED DRUG; WARFARIN;

AGRANULOCYTOSIS; CLINICAL TRIAL; DRUG ANTAGONISM; DRUG BLOOD LEVEL; DRUG EFFICACY; DRUG ERUPTION; DRUG EXCRETION; DRUG HALF LIFE; DRUG METABOLISM; DRUG POTENTIATION; DRUG PROTEIN BINDING; DRUG RESPONSE; DRUG SENSITIVITY; DRUG TARGETING; DRUG TREATMENT FAILURE; GENETIC POLYMORPHISM; GENETIC VARIABILITY; GENOTYPE; GLYCEMIC CONTROL; HEMOLYTIC ANEMIA; HOMOZYGOSITY; HOT FLUSH; HUMAN; HYPOGLYCEMIA; HYPONATREMIA; INSULIN RELEASE; LIFESTYLE MODIFICATION; LIVER METABOLISM; NON INSULIN DEPENDENT DIABETES MELLITUS; OBSTRUCTIVE JAUNDICE; PHARMACODYNAMICS; PHARMACOGENOMICS; PHENOTYPE; REVIEW; SIDE EFFECT; THROMBOCYTOPENIA; URINARY EXCRETION; WEIGHT GAIN;

AGED; ARYL HYDROCARBON HYDROXYLASES; ATP-BINDING CASSETTE TRANSPORTERS; BLOOD GLUCOSE; DIABETES MELLITUS, TYPE 2; DRUG DELIVERY SYSTEMS; FEMALE; HUMANS; MALE; MIDDLE AGED; PHARMACOGENETICS; POLYMORPHISM, GENETIC; PROGNOSIS; SULFONYLUREA COMPOUNDS; TREATMENT OUTCOME;

EID: 77949450562     PISSN: 14779072     EISSN: 17448344     Source Type: Journal    
DOI: 10.1586/erc.09.154     Document Type: Review

References (74)

1. Stumvoll M, Goldstein BJ, van Haeften TW. Type 2 diabetes: principles of pathogenesis and therapy. Lancet 365(9467), 1333-1346 (2005).
2. American Diabetes Association. Standards of medical care in diabetes - 2009. Diabetes Care 32(Suppl. 1), S13-S61 (2009).
3. No authors listed. Intensive blood-glucose control with sulphonylureas or insulin compared with conventional treatment and risk of complications in patients with Type 2 diabetes (UKPDS 33). UK Prospective Diabetes Study (UKPDS) group. Lancet 352(9131), 837-853 (1998).
4. No authors listed. Effect of intensive blood-glucose control with metformin on complications in overweight patients with Type 2 diabetes (UKPDS 34). UK Prospective Diabetes Study (UKPDS) group. Lancet 352(9131), 854-865 (1998).
5. Ohkubo Y, Kishikawa H, Araki E et al. Intensive insulin therapy prevents the progression of diabetic microvascular complications in Japanese patients with non-insulin-dependent diabetes mellitus: a randomized prospective 6-year study. Diabetes Res. Clin. Pract. 28(2), 103-117 (1995).
6. Holman RR, Paul SK, Bethel MA, Matthews DR, Neil HA. 10-year follow-up of intensive glucose control in Type 2 diabetes. N. Engl. J. Med. 359(15), 1577-1589 (2008).
7. Gerstein HC, Miller ME, Byington RP et al. Effects of intensive glucose lowering in Type 2 diabetes. N. Engl. J. Med. 358(24), 2545-2559 (2008).
8. Patel A, MacMahon S, Chalmers J et al. Intensive blood glucose control and vascular outcomes in patients with Type 2 diabetes. N. Engl. J. Med. 358(24), 2560-2572 (2008).
9. Duckworth W, Abraira C, Moritz T et al. Glucose control and vascular complications in veterans with Type 2 diabetes. N. Engl. J. Med. 360(2), 129-139 (2009).
10. Kelly TN, Bazzano LA, Fonseca VA, Thethi TK, Reynolds K, He J. Systematic review: glucose control and cardiovascular disease in Type 2 diabetes. Ann. Intern. Med. 151(6), 394-403 (2009).
11. Ray KK, Seshasai SR, Wijesuriya S et al. Effect of intensive control of glucose on cardiovascular outcomes and death in patients with diabetes mellitus: a meta-analysis of randomised controlled trials. Lancet 373(9677), 1765-1772 (2009).
12. Nathan DM, Buse JB, Davidson MB et al. Medical management of hyperglycemia in Type 2 diabetes: a consensus algorithm for the initiation and adjustment of therapy: a consensus statement of the American Diabetes Association and the European Association for the Study of Diabetes Diabetes Care 32(1), 193-203 (2009).
13. Roden DM, Altman RB, Benowitz NL et al. Pharmacogenomics: challenges and opportunities. Ann. Intern. Med. 145(10), 749-757 (2006).
14. Kirchheiner J, Roots I, Goldammer M, Rosenkranz B, Brockmoller J. Effect of genetic polymorphisms in cytochrome p450 (CYP) 2C9 and CYP2C8 on the pharmacokinetics of oral antidiabetic drugs: clinical relevance. Clin. Pharmacokinet. 44(12), 1209-1225 (2005).
15. Pacanowski MA, Hopley CW, Aquilante CL. Interindividual variability in oral antidiabetic drug disposition and response: the role of drug transporter polymorphisms. Expert Opin. Drug Metab. Toxicol. 4(5), 529-544 (2008).
16. Murphy R, Ellard S, Hattersley AT. Clinical implications of a molecular genetic classification of monogenic β-cell diabetes. Nat. Clin. Pract. Endocrinol. Metab. 4(4), 200-213 (2008).
17. Gloyn AL, Ellard S. Defining the genetic aetiology of monogenic diabetes can improve treatment. Expert Opin. Pharmacother. 7(13), 1759-1767 (2006).
18. Reis AF, Velho G. Sulfonylurea receptor-1 (SUR1): genetic and metabolic evidences for a role in the susceptibility to Type 2 diabetes mellitus. Diabetes Metab. 28(1), 14-19 (2002).
19. Marchetti P, Navalesi R. Pharmacokinetic-pharmacodynamic relationships of oral hypoglycaemic agents. An update. Clin. Pharmacokinet. 16(2), 100-128 (1989).
20. 2+ concentration. J. Biol. Chem. 273(50), 33501-33507 (1998).
21. Maedler K, Carr RD, Bosco D, Zuellig RA, Berney T, Donath MY. Sulfonylurea induced β-cell apoptosis in cultured human islets. J. Clin. Endocrinol. Metab. 90(1), 501-506 (2005).
22. Del Guerra S, Marselli L, Lupi R et al. Effects of prolonged in vitro exposure to sulphonylureas on the function and survival of human islets. J. Diabetes Complicat. 19(1), 60-64 (2005).
23. Del Prato S, Pulizzi N. The place of sulfonylureas in the therapy for Type 2 diabetes mellitus. Metabolism 55(5 Suppl. 1), S20-S27 (2006).
24. Krentz AJ, Bailey CJ. Oral antidiabetic agents: current role in Type 2 diabetes mellitus. Drugs 65(3), 385-411 (2005).
25. Meinert CL, Knatterud GL, Prout TE, Klimt CR. A study of the effects of hypoglycemic agents on vascular complications in patients with adult-onset diabetes. II. Mortality results. Diabetes 19(Suppl.), 789-830 (1970).
26. Thisted H, Johnsen SP, Rungby J. Sulfonylureas and the risk of myocardial infarction. Metabolism 55(5 Suppl. 1), S16-S19 (2006).
27. Kar P, Holt RI. The effect of sulphonylureas on the microvascular and macrovascular complications of diabetes. Cardiovasc. Drugs Ther. 22(3), 207-213 (2008).
28. Stevens RJ, Coleman RL, Adler AI, Stratton IM, Matthews DR, Holman RR. Risk factors for myocardial infarction case fatality and stroke case fatality in Type 2 diabetes: UKPDS 66. Diabetes Care 27(1), 201-207 (2004).
29. DeFronzo RA. Pharmacologic therapy for Type 2 diabetes mellitus. Ann. Intern. Med. 131(4), 281-303 (1999).
30. Kahn SE, Haffner SM, Heise MA et al. Glycemic durability of rosiglitazone, metformin, or glyburide monotherapy. N. Engl. J. Med. 355(23), 2427-2443 (2006).
31. Kirchheiner J, Bauer S, Meineke I et al. Impact of CYP2C9 and CYP2C19 polymorphisms on tolbutamide kinetics and the insulin and glucose response in healthy volunteers. Pharmacogenetics 12(2), 101-109 (2002).
32. Kirchheiner J, Brockmoller J, Meineke I, et al. Impact of CYP2C9 amino acid polymorphisms on glyburide kinetics and on the insulin and glucose response in healthy volunteers. Clin. Pharmacol. Ther. 71(4), 286-296 (2002).
33. Becker ML, Visser LE, Trienekens PH, Hofman A, van Schaik RH, Stricker BH. Cytochrome P450 2C9 *2 and *3 polymorphisms and the dose and effect of sulfonylurea in Type II diabetes mellitus. Clin. Pharmacol. Ther. 83(2), 288-292 (2008).
34. Zhou K, Donnelly L, Burch L et al. Loss-of-function CYP2C9 variants improve therapeutic response to sulfonylureas in Type 2 diabetes: a Go-DARTS study. Clin. Pharmacol. Ther. 87(1), 52-56 (2009).
35. Holstein A, Plaschke A, Ptak M et al. Association between CYP2C9 slow metabolizer genotypes and severe hypoglycaemia on medication with sulphonylurea hypoglycaemic agents. Br. J. Clin. Pharmacol. 60(1), 103-106 (2005).
36. Flanagan SE, Clauin S, Bellanne-Chantelot C et al. Update of mutations in the genes encoding the pancreatic β-cell KATP channel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism. Hum. Mutat. 30(2), 170-180 (2009).
37. Sattiraju S, Reyes S, Kane GC, Terzic A. KATP channel pharmacogenomics: from bench to bedside. Clin. Pharmacol. Ther. 83(2), 354-357 (2008).
38. Rafiq M, Flanagan SE, Patch AM, Shields BM, Ellard S, Hattersley AT. Effective treatment with oral sulfonylureas in patients with diabetes due to sulfonylurea receptor 1 (SUR1) mutations. Diabetes Care 31(2), 204-209 (2008).
39. Pearson ER, Flechtner I, Njolstad PR et al. Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations. N. Engl. J. Med. 355(5), 467-477 (2006).
40. Hansen T, Echwald SM, Hansen L et al. Decreased tolbutamide-stimulated insulin secretion in healthy subjects with sequence variants in the high-affinity sulfonylurea receptor gene. Diabetes 47(4), 598-605 (1998).
41. Meirhaeghe A, Helbecque N, Cottel D et al. Impact of sulfonylurea receptor 1 genetic variability on non-insulin-dependent diabetes mellitus prevalence and treatment: a population study. Am. J. Med. Genet. 101(1), 4-8 (2001).
42. Zychma MJ, Gumprecht J, Strojek K et al. Sulfonylurea receptor gene 16-13 polymorphism - association with sulfonylurea or insulin treatment in Type 2 diabetic subjects. Med. Sci. Monit. 8(7), CR512-CR515 (2002).
43. Florez JC, Jablonski KA, Kahn SE et al. Type 2 diabetes-associated missense polymorphisms KCNJ11 E23K and ABCC8 A1369S influence progression to diabetes and response to interventions in the Diabetes Prevention Program. Diabetes 56(2), 531-536 (2007).
44. Zhang H, Liu X, Kuang H, Yi R, Xing H. Association of sulfonylurea receptor 1 genotype with therapeutic response to gliclazide in Type 2 diabetes. Diabetes Res. Clin. Pract. 77(1), 58-61 (2007).
45. Feng Y, Mao G, Ren X et al. Ser1369Ala variant in sulfonylurea receptor gene ABCC8 is associated with antidiabetic efficacy of gliclazide in Chinese Type 2 diabetic patients. Diabetes Care 31(10), 1939-1944 (2008).
46. Gloyn AL, Hashim Y, Ashcroft SJ, Ashfield R, Wiltshire S, Turner RC. Association studies of variants in promoter and coding regions of β-cell ATP-sensitive K-channel genes SUR1 and Kir6.2 with Type 2 diabetes mellitus (UKPDS 53). Diabet. Med. 18(3), 206-212 (2001).
47. Florez JC, Burtt N, de Bakker PI et al. Haplotype structure and genotype- phenotype correlations of the sulfonylurea receptor and the islet ATP-sensitive potassium channel gene region. Diabetes 53(5), 1360-1368 (2004).
48. Nielsen EM, Hansen L, Carstensen B et al. The E23K variant of Kir6.2 associates with impaired post-OGTT serum insulin response and increased risk of Type 2 diabetes. Diabetes 52(2), 573-577 (2003).
49. + channels. Diabetes 51(3), 875-879 (2002).
50. + channel Kir6.2 (Bir) gene: identification and lack of role in Caucasian patients with NIDDM. Diabetes 46(3), 502-507 (1997).
51. Barroso I, Luan J, Middelberg RP et al. Candidate gene association study in Type 2 diabetes indicates a role for genes involved in β-cell function as well as insulin action. PLoS Biol. 1(1), E20 (2003).
52. Sesti G, Laratta E, Cardellini M et al. The E23K variant of KCNJ11 encoding the pancreatic β-cell adenosine 5́-triphosphate-sensitive potassium channel subunit Kir6.2 is associated with an increased risk of secondary failure to sulfonylurea in patients with Type 2 diabetes. J. Clin. Endocrinol. Metab. 91(6), 2334-2339 (2006).
53. Holstein A, Hahn M, Stumvoll M, Kovacs P. The E23K variant of KCNJ11 and the risk for severe sulfonylurea-induced hypoglycemia in patients with Type 2 diabetes. Horm. Metab. Res. 41(5), 387-390 (2009).
54. + channel. Diabetes 58(10), 2419-2424 (2009).
55. Grant RW, Moore AF, Florez JC. Genetic architecture of Type 2 diabetes: recent progress and clinical implications. Diabetes Care 32(6), 1107-1114 (2009).
56. Jin T. The WNT signalling pathway and diabetes mellitus. Diabetologia 51(10), 1771-1780 (2008).
57. Grant SF, Thorleifsson G, Reynisdottir I et al. Variant of transcription factor 7-like 2 (TCF7L2) gene confers risk of Type 2 diabetes. Nat. Genet. 38(3), 320-323 (2006).
58. Tong Y, Lin Y, Zhang Y, Yang J, Liu H, Zhang B. Association between TCF7L2 gene polymorphisms and susceptibility to Type 2 diabetes mellitus: a large Human Genome Epidemiology (HuGE) review and meta-analysis. BMC Med. Genet. 10, 15 (2009).
59. Pearson ER. Translating TCF7L2: from gene to function. Diabetologia 52(7), 1227-1230 (2009).
60. Lyssenko V, Lupi R, Marchetti P et al. Mechanisms by which common variants in the TCF7L2 gene increase risk of Type 2 diabetes. J. Clin. Invest. 117(8), 2155-2163 (2007).
61. Hattersley AT, Pearson ER. Minireview: pharmacogenetics and beyond: the interaction of therapeutic response, β-cell physiology, and genetics in diabetes. Endocrinology 147(6), 2657-2663 (2006).
62. Pearson ER, Donnelly LA, Kimber C et al. Variation in TCF7L2 influences therapeutic response to sulfonylureas: a GoDARTs study. Diabetes 56(8), 2178-2182 (2007).
63. Jellema A, Zeegers MP, Feskens EJ, Dagnelie PC, Mensink RP. Gly972Arg variant in the insulin receptor substrate-1 gene and association with Type 2 diabetes: a meta-analysis of 27 studies. Diabetologia 46(7), 990-995 (2003).
64. Zeggini E, Parkinson J, Halford S et al. Association studies of insulin receptor substrate 1 gene (IRS1) variants in Type 2 diabetes samples enriched for family history and early age of onset. Diabetes 53(12), 3319-3322 (2004).
65. Florez JC, Sjogren M, Burtt N et al. Association testing in 9,000 people fails to confirm the association of the insulin receptor substrate-1 G972R polymorphism with Type 2 diabetes. Diabetes 53(12), 3313-3318 (2004).
66. Porzio O, Federici M, Hribal ML et al. The Gly972→Arg amino acid polymorphism in IRS-1 impairs insulin secretion in pancreatic β cells. J. Clin. Invest. 104(3), 357-364 (1999).
67. Marchetti P, Lupi R, Federici M et al. Insulin secretory function is impaired in isolated human islets carrying the Gly(972) →Arg IRS-1 polymorphism. Diabetes 51(5), 1419-1424 (2002).
68. Sesti G, Marini MA, Cardellini M et al. The Arg972 variant in insulin receptor substrate-1 is associated with an increased risk of secondary failure to sulfonylurea in patients with Type 2 diabetes. Diabetes Care 27(6), 1394-1398 (2004).
69. Schulz R, Rassaf T, Massion PB, Kelm M, Balligand JL. Recent advances in the understanding of the role of nitric oxide in cardiovascular homeostasis. Pharmacol. Ther. 108(3), 225-256 (2005).
70. Massion PB, Pelat M, Belge C, Balligand JL. Regulation of the mammalian heart function by nitric oxide. Comp. Biochem. Physiol. A Mol. Integr. Physiol. 142(2), 144-150 (2005).
71. Lajoix AD, Reggio H, Chardes T et al. A neuronal isoform of nitric oxide synthase expressed in pancreatic β-cells controls insulin secretion. Diabetes 50(6), 1311-1323 (2001).
72. Gunawardana SC, Rocheleau JV, Head WS, Piston DW. Mechanisms of time-dependent potentiation of insulin release: involvement of nitric oxide synthase. Diabetes 55(4), 1029-1033 (2006).
73. Becker ML, Aarnoudse AJ, Newton-Cheh C et al. Common variation in the NOS1AP gene is associated with reduced glucose-lowering effect and with increased mortality in users of sulfonylurea. Pharmacogenet. Genomics 18(7), 591-597 (2008).
74. Pearson ER, Starkey BJ, Powell RJ, Gribble FM, Clark PM, Hattersley AT. Genetic cause of hyperglycaemia and response to treatment in diabetes. Lancet 362(9392), 1275-1281 (2003).