Pharmacogenetics: Potential role in the treatment of diabetes and obesity

Expert Opinion on Pharmacotherapy

Volumn 9, Issue 7, 2008, Pages 1109-1119

  Vella, Adrian ^a   Camilleri, Michael ^a  

^a MAYO CLINIC   (United States)

Author keywords

Common genetic variation; Glucagon like peptide 1; Obesity; Pharmacogenetics; Sulfonylureas; Thiazolidinediones; Type 1 diabetes; Type 2 diabetes

Indexed keywords

ATORVASTATIN; CHOLESTEROL ESTER TRANSFER PROTEIN; DIPEPTIDYL PEPTIDASE IV; DIPEPTIDYL PEPTIDASE IV INHIBITOR; EXENDIN 4; GLITAZONE DERIVATIVE; GLUCAGON LIKE PEPTIDE 1; GLUCOSE; HLA ANTIGEN CLASS 2; HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE INHIBITOR; HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE KINASE; INSULIN; LEPTIN; MEGLITINIDE; METFORMIN; NATEGLINIDE; ORGANIC CATION TRANSPORTER; PEROXISOME PROLIFERATOR ACTIVATED RECEPTOR; PIOGLITAZONE; PLACEBO; RECOMBINANT LEPTIN; REPAGLINIDE; RIMONABANT; ROSIGLITAZONE; SIBUTRAMINE; SITAGLIPTIN; SULFONYLUREA; TETRAHYDROLIPSTATIN; TROGLITAZONE; UNINDEXED DRUG; BIOLOGICAL MARKER;

CALORIC RESTRICTION; CLINICAL TRIAL; DEPRESSION; DIABETES MELLITUS; DISEASE PREDISPOSITION; DRUG ABSORPTION; DRUG BINDING; DRUG EFFICACY; DRUG HALF LIFE; DRUG MECHANISM; DRUG METABOLISM; DRUG RESPONSE; DRUG UPTAKE; GASTROINTESTINAL SYMPTOM; GENETIC ASSOCIATION; GENETIC PREDISPOSITION; GENETIC VARIABILITY; HOMOZYGOSITY; HUMAN; HYPERLIPIDEMIA; IMPAIRED GLUCOSE TOLERANCE; INSULIN DEPENDENT DIABETES MELLITUS; INSULIN RELEASE; LIFESTYLE MODIFICATION; LIPOATROPHY; LIPODYSTROPHY; MATURITY ONSET DIABETES MELLITUS; METABOLIC DISORDER; MONOGENIC DISORDER; MONOTHERAPY; MYALGIA; MYOSITIS; NON INSULIN DEPENDENT DIABETES MELLITUS; NONHUMAN; OBESITY; PHARMACOGENETICS; REVIEW; RHABDOMYOLYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; WEIGHT REDUCTION; CONTROLLED CLINICAL TRIAL; GENETICS;

BIOLOGICAL MARKERS; CONTROLLED CLINICAL TRIALS AS TOPIC; DIABETES MELLITUS, TYPE 1; DIABETES MELLITUS, TYPE 2; GENETIC PREDISPOSITION TO DISEASE; HUMANS; OBESITY; PHARMACOGENETICS;

EID: 43049170254     PISSN: 14656566     EISSN: None     Source Type: Journal    
DOI: 10.1517/14656566.9.7.1109     Document Type: Review

References (83)

1. Hirschhorn JN, Daly MJ. Genome-wide association studies for common diseases and complex traits. Nat Rev Genet 2005;6:95-108
2. Todd JA. Statistical false positive or true disease pathway? Nat Genet 2006;38:731-3
3. Todd JA, Walker NM, Cooper JD, et al. Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes. Nat Genet 2007;39:857-64
4. Matesanz F, Caro-Maldonado A, Fedetz M, et al. IL2RA/CD25 polymorphisms contribute to multiple sclerosis susceptibility. J Neurol 2007;254:682-4
5. Frayling TM, Timpson NJ, Weedon MN, et al. A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity. Science 2007;316:889-94
6. Zeggini E, Weedon MN, Lindgren CM, et al. Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes. Science 2007;316:1336-41
7. Sladek R, Rocheleau G, Rung J, et al. A genome-wide association study identifies novel risk loci for type 2 diabetes. Nature 2007;445:881-5
8. Scott LJ, Mohlke KL, Bonnycastle LL, et al. A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants. Science 2007;316:1341-5
9. Saxena R, Voight BF, Lyssenko V, et al. Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels. Science 2007;316:1331-6
10. Steinthorsdottir V, Thorleifsson G, Reynisdottir I, et al. A variant in CDKAL1 influences insulin response and risk of type 2 diabetes. Nat Genet 2007;39:770-5
11. The eflect of intensive treatment of diabetes on the development and progression of long-term complications in insulin-dependent diabetes mellitus. The Diabetes Control and Complications Trial Research Group. N Engl J Med 1993;329:977-86
12. 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 1998;352:837-53
13. 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 1998;352:854-65
14. Siconolfi-Baez L, Banerji MA, Lebovitz HE. Characterization and significance of sulfonylurea receptors. Diabetes Care 1990;13(Suppl 3):2-8
15. Fuhlendorff J, Rorsman P, Kofod H, et al. Stimulation of insulin release by repaglinide and glibenclamide involves both common and distinct processes. Diabetes 1998;47:345-51
16. United Kingdom Prospective Diabetes Study 24: a 6-year, randomized, controlled trial comparing sulfonylurea, insulin, and metformin therapy in patients with newly diagnosed type 2 diabetes that could not be controlled with diet therapy. United Kingdom Prospective Diabetes Study Group. Ann Intern Med 1998;128:165-75
17. Kieffer TJ, Habener JF. The glucagon-like peptides. Endocr Rev 1999;20:876-913
18. Drucker DJ. Development of glucagon-like peptide-1-based pharmaceuticals as therapeutic agents for the treatment of diabetes. Curr Pharm Des 2001;7:1399-412
19. DeFronzo RA, Ratner RE, Han J, et al. Effects of exenatide (exendin-4) on glycemic control and weight over 30 weeks in metformin-treated patients with type 2 diabetes. Diabetes Care 2005;28:1092-100
20. Ristic S, Byiers S, Foley J, et al. Improved glycaemic control with dipeptidyl peptidase-4 inhibition in patients with type 2 diabetes: vildagliptin (LAF237) dose response. Diabetes Obes Metab 2005;7:692-8
21. Vella A, Bock G, Giesler PD, et al. Effects of dipeptidyl peptidase-4 inhibition on gastrointestinal function, meal appearance, and glucose metabolism in type 2 diabetes. Diabetes 2007;56:1475-80
22. Klip A, Leiter LA. Cellular mechanism of action of metformin. Diabetes Care 1990;13:696-704
23. Staels B, Fruchart JC. Therapeutic roles of peroxisome proliferator-activated receptor agonists. Diabetes 2005;54:2460-70
24. Arterburn DE, Crane PK, Veenstra DL. The efficacy and safety of sibutramine for weight loss: a systematic review. Arch Intern Med 2004;164:994-1003
25. Despres JP, Golay A, Sjostrom L. Effects of rimonabant on metabolic risk factors in overweight patients with dyslipidemia. N Engl J Med 2005;353:2121-34
26. 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 2006;38:320-3
27. Gloyn AL, Weedon MN, Owen KR, et al. large-scale association studies of variants in genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) confirm that the KCNJ11 E23K variant is associated with type 2 diabetes. Diabetes 2003;52:568-72
28. Altshuler D, Hirschhorn JN, Klannemark M, et al. The common PPARgamma Pro 12Ala polymorphism is associated with decreased risk of type 2 diabetes. Nat Genet 2000;26:76-80
29. Lyssenko V. Almgren P, Anevski D, et al. Genetic prediction of future type 2 diabetes. PLoS Med 2005;2:e345
30. Hansen SK, Nielsen EM, Ek J, et al. Analysis of separate and combined effects of common variation in KCNJ11 and PPARG on risk of type 2 diabetes. J Clin Endocrinol Metab 2005;90:3629-37
31. Florez JC, Jablonski KA, Bayley N, et al. TCF7L2 polymorphisms and progression to diabetes in the Diabetes Prevention Program. N Engl J Med 2006;355:241-50
32. Humphries SE, Gable D, Cooper JA, et al. Common variants in the TCF7L2 gene and predisposition to type 2 diabetes in UK European Whites, Indian Asians and Afro-Caribbean men and women. J Mol Med 2006;84:1-10
33. Damcott CM, Pollin TI, Reinhart LJ, et al. Polymorphisms in the transcription factor 7-like 2 (TCF7L2) gene are associated with type 2 diabetes in the Amish: replication and evidence for a role in both insulin secretion and insulin resistance. Diabetes 2006;55:2654-9
34. Saxena R, Gianniny L, Burtt NP, et al. Common single nucleotide polymorphisms in TCF7L2 are reproducibly associated with type 2 diabetes and reduce the insulin response to glucose in nondiabetic individuals. Diabetes 2006;55:2890-5
35. Helgason A, Palsson S, Thorleifsson G, et al. Refining the impact of TCF7L2 gene variants on type 2 diabetes and adaptive evolution. Nat Genet 2007;39:218-25
36. Tremelling M, Parkes M. Genome-wide association scans identify multiple confirmed susceptibility loci for Crohn's disease: lessons for study design. Inflamm Bowel Dis 2007;13:1554-60
37. Sandhu MS, Weedon MN, Fawcett KA, et al. Common variants in WFS1 confer risk of type 2 diabetes. Nat Genet 2007;39:951-3
38. Florez JC, Jablonski KA, McAteer J, et al. Testing of diabetes-associated WFS1 polymorphisms in the Diabetes Prevention Program. Diabetologia 2008;51:451-7
39. Gudmundsson J, Sulem P, Steinthorsdottir V, et al. Two variants on chromosome 17 confer prostate cancer risk, and the one in TCF2 protects against type 2 diabetes. Nat Genet 2007;39:977-83
40. Winckler W, Weedon MN, Graham RR, et al. Evaluation of common variants in the six known maturity-onset diabetes of the young (MODY) genes for association with type 2 diabetes. Diabetes 2007;56:685-93
41. Dina C, Meyre D, Gallina S, et al. Variation in FTO contributes to childhood obesity and severe adult obesity. Nat Genet 2007;39:724-6
42. Scuteri A, Sanna S, Chen WM, et al. Genome-wide association scan shows genetic variants in the FTO gene are associated with obesity-related traits. PLoS Genet 2007;3:e115
43. Ueda H, Howson JM, Esposito L, et al. Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease. Nature 2003;423:506-11
44. Bottini N, Musumeci L, Alonso A, et al. A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes. Nat Genet 2004;36:337-8
45. Vella A, Cooper JD, Lowe CE, et al. Localization of a type 1 diabetes locus in the IL2RA/CD25 region by use of tag single-nucleotide polymorphisms. Am J Hum Genet 2005;76:773-9
46. Lowe CE, Cooper JD, Brusko T, et al. Large-scale genetic fine mapping and genotype-phenotype associations implicate polymorphism. in the IL2RA region in type 1 diabetes. Nat Genet 2007;39:1074-82
47. Hattersley AT. Molecular genetics goes to the diabetes clinic. Clin Med 2005;5:476-81
48. 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 2006;355:467-77
49. Hattersley AT, Pearson ER. Minireview: pharmacogenetics and beyond: the interaction of therapeutic response, beta-cell physiology, and genetics in diabetes. Endocrinology 2006;147:2657-63
50. Hegele RA, Joy TR, Al-Attar SA, et al. Thematic review series: Adipocyte biology. Lipodystrophies: windows on adipose biology and metabolism. J Lipid Res 2007;48:1433-44
51. Arioglu E, Duncan-Morin J, Sebring N, et al. Efficacy and safety of troglitazone in the treatment of lipodystrophy syndromes. Ann Intern Med 2000;133:263-74
52. Farooqi IS, Jebb SA, Langmack G, et al. Effects of recombinant leptin therapy in a child with congenital leptin deficiency. N Engl J Med 1999;341:879-84
53. Hukshorn CJ, Saris WH, Westerterp-Plantenga MS, et al. Weekly subcutaneous pegylated recombinant native human leptin (PEG-OB) administration in obese men. J Clin Endocrinol Metab 2000;85:4003-9
54. Heymsfield SB, Greenberg AS, Fujioka K. et al. Recombinant leptin for weight loss in obese and lean adults: a randomized, controlled, dose-escalation trial. JAMA 1999;282:1568-75
55. Farooqi S, O'Rahilly S. Genetics of obesity in humans. Endocr Rev 2006;27:710-8
56. Lyssenko V, Almgren P, Anevski D, et al. Genetic prediction of future type 2 diabetes. PLoS Med 2005;2:e345
57. Sesti G, Laratta E, Cardellini M, et al. The E23K variant of KCNJ11 encoding the pancreatic beta-cell adenosine 5′-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 2006;91:2334-9
58. Gloyn AL, Hashim Y, Ashcroft SJ, et al. Association studies of variants in promoter and coding regions of beta-cell ATP-sensitive K-channel genes SUR1 and Kir6.2 with type 2 diabetes mellitus (UKPDS 53). Diabet Med 2001;18:206-12
59. 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 2007;56:531-6
60. Mulholland DJ, Dedhar S, Coetzee GA, et al. Interaction of nuclear receptors with the Wnt/beta-catenin/Tcf signaling axis: Wnt you like to know? Endocr Rev 2005;26:898-915
61. Yi F, Brubaker PL, Jin T. TCF-4 mediates cell type-specific regulation of proglucagon gene expression by beta-catenin and glycogen synthase kinase-3beta. J Biol Chem 2005;280:1457-64
62. 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 2007;117:2155-63
63. Beinborn M, Worrall CL, McBride EW, et al. A human glucagon-like peptide-1 receptor polymorphism results in reduced agonist responsiveness. Regul Pept 2005;130:1-6
64. Bluher M, Lubben G, Paschke R. Analysis of the relationship between the Pro12Ala variant in the PPAR-gamma2 gene and the response rate to therapy with pioglitazone in patients with type 2 diabetes. Diabetes Care 2003;26:825-31
65. 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-gamma2 gene variant results from the Troglitazone in Prevention of Diabetes (TRIPOD) study. Diabetes Care 2004;27:1365-8
66. Wolford JK, Yeatts KA, Dhanjal SK, et al. Sequence variation in PPARG may underlie differential response to troglitazone. Diabetes 2005;54:3319-25
67. Florez JC, Jablonski KA, Sun MW, et al. Effeccs of the type 2 diabetes-associated PPARG P12A polymorphism on progression to diabetes and response to troglitazone. J Clin Endocrinol Metab 2007;92:1502-9
68. Shaw RJ, Lamia KA, Vasquez D, et al. The kinase LKB1 mediates glucose homeostasis in liver and therapeutic effects of metformin. Science 2005;310:1642-6
69. Wang DS, Jonker JW, Kato Y, et al. Involvement of organic cation transporter 1 in hepatic and intestinal distribution of metformin. J Pharmacol Exp Ther 2002;302:510-5
70. Jonker JW, Wagenaar E, Mol CA, et al. Reduced hepatic uptake and intestinal excretion of organic cations in mice with a targeted disruption of the organic cation transporter 1 (Oct1 [Slc22a1]) gene. Mol Cell Biol 2001;21:5471-7
71. 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 2007;117:1422-31
72. Weintraub M. Long-term weight control study: conclusions. Clin Pharmacol Ther 1992;51:642-6
73. Camilleri M. Pharmacogenomics and serotonergic agents: research observations and potential clinical practice implications. Neurogastroenterol Motil 2007;19(Suppl 2):40-5
74. Peters WR, MacMurry JP, Walker J, et al. Phenylethanolamine N-methyltransferase G-148A genetic variant and weight loss in obese women. Obes Res 2003;11:415-9
75. Hauner H, Meier M, Jockel KH, et al. Prediction of successful weight reduction under sibutramine therapy through genotyping of the G-protein beta3 subunit gene (GNB3) C825T polymorphism. Pharmacogenetics 2003;13:453-9
76. Kim HJ, Camilleri M, Carlson PJ, et al. Association of distinct alpha(2) adrenoceptor and serotonin transporter polymorphisms with constipation and somatic symptoms in functional gastrointestinal disorders. Gut 2004;53:829-37
77. Vazquez Roque MI, Camilleri M, Clark MM, et al. Alteration of gastric functions and candidate genes associated with weight reduction in response to sibutramine. Clin Gastroenterol Hepatol 2007;5:829-37
78. Lesch KP, Bengel D, Heils A, et al. Association of anxiety-related traits with a polymorphism in the serotonin transporter gene regulatory region. Science 1996;274:1527-31
79. McClure DL, Valuck RJ, Glanz M, et al. Systematic review and meta-analysis of clinically relevant adverse events from HMG CoA reductase inhibitor trials worldwide from 1982 to present. Pharmacoepidemiol Drug Saf 2007;16:13243
80. Wilke RA, Berg RL, Vidaillet HJ, et al. Impact of age, CYP2C9 genotype and concomitant medication on the rate of rise for prothrombin time during the first 30 days of warfarin therapy. Clin Med Res 2005;3:207-13
81. Oh J, Ban MR, Miskie BA, et al. Genetic determinants of statin intolerance. Lipids Health Dis 2007;6:7
82. Wilke RA, Lin DW, Roden DM, et al. Identifying genetic risk factors for serious adverse drug reactions: current progress and challenges. Nat Rev Drug Discov 2007;6:904-16
83. Winkelmann BR, Hoffmann MM, Nauck M, et al. Haplotypes of the cholesteryl ester transfer protein gene predict lipid-modifying response to statin therapy. Pharmacogenomics J 2003;3:284-96