Genetic variants of the insulin receptor substrate-1 are influencing the therapeutic efficacy of oral antidiabetics

Diabetes, Obesity and Metabolism

Volumn 12, Issue 12, 2010, Pages 1106-1112

  Seeringer, Angela ^a   Parmar, S ^a   Fischer, A ^a   Altissimo, B ^a   Zondler, L ^a   Lebedeva, E ^a   Pitterle, K ^a   Roots, I ^b   Kirchheiner, J ^a  

^a UNIVERSITY OF ULM   (Germany)

^b CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

Author keywords

Glycaemic control; Metformin; Pharmacogenetics; Sulphonylureas; Type 2 diabetes

Indexed keywords

ACARBOSE; FENOFIBRATE; FLUINDOSTATIN; GLITAZONE DERIVATIVE; HEMOGLOBIN A1C; INSULIN; INSULIN RECEPTOR SUBSTRATE 1; METFORMIN; ORAL ANTIDIABETIC AGENT; SULFONYLUREA;

AGED; ALLELE; ARTICLE; DNA POLYMORPHISM; DRUG EFFICACY; FEMALE; GENE FREQUENCY; GENETIC VARIABILITY; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; NON INSULIN DEPENDENT DIABETES MELLITUS; POLYMERASE CHAIN REACTION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SIGNAL TRANSDUCTION; TREATMENT FAILURE;

EID: 77958580853     PISSN: 14628902     EISSN: 14631326     Source Type: Journal    
DOI: 10.1111/j.1463-1326.2010.01301.x     Document Type: Article

References (29)

1. Standards of medical care in diabetes-2007. Diabetes Care 2007; 30(Suppl. 1): S4-4 1.
2. Koro CE, Bowlin SJ, Bourgeois N. Glycemic control from 1988 to 2000 among U.S. adults diagnosed with type 2 diabetes: a preliminary report. Diabetes Care 2004; 27: 17-20.
3. Kirchheiner J, Roots I, Goldammer M. Effect of genetic polymorphisms in cytochrome p450 (CYP) 2C9 and CYP2C8 on the pharmacokinetics of oral antidiabetic drugs: clinical relevance. Clin Pharmacokinet 2005; 44: 1209-1225.
4. Kirchheiner J, Meineke I, Müller G et al. Influence of CYP2C9 and CYP2D6 polymorphisms on the pharmacokinetics of nateglinide in genotyped healthy volunteers. Clin Pharmacokinet 2004; 43: 267-278.
5. 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 2002; 71: 286-296.
6. 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 2005; 60: 103-106.
7. Niemi M, Cascorbi I, Timm R. Glyburide and glimepiride pharmacokinetics in subjects with different CYP2C9 genotypes. Clin Pharmacol Ther 2002; 72: 326-332.
8. Zhou K, Myers R, Li Y et al. Loss-of-function CYP2C9 variants improve therapeutic response to sulfonylureas in type 2 diabetes: a Go-DARTS study. Clin Pharmacol Ther 87: 52-56.
9. Ragia G, Petridis I, Tavridou A. Presence of CYP2C9*3 allele increases risk for hypoglycemia in type 2 diabetic patients treated with sulfonylureas. Pharmacogenomics 2009; 10: 1781-1787.
10. Sun XJ, Rothenberg P, Kahn CR et al. Structure of the insulin receptor substrate IRS-1 defines a unique signal transduction protein. Nature 1991; 352: 73-77.
11. Burks DJ, White MF. IRS proteins and beta-cell function. Diabetes 2001; 50(Suppl. 1): S140-5.
12. 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 2004; 27: 1394-1398.
13. Sesti G, Federici M, Hribal ML. Defects of the insulin receptor substrate (IRS) system in human metabolic disorders. Faseb J 2001; 15: 2099-2111.
14. Saltiel AR, Kahn CR. Insulin signalling and the regulation of glucose and lipid metabolism. Nature 2001; 414: 799-806.
15. Fritsche L, Weigert C, Haring HU. How insulin receptor substrate proteins regulate the metabolic capacity of the liver-implications for health and disease. Curr Med Chem 2008; 15: 1316-1329.
16. Almind K, Bjorbaek C, Vestergaard H. Amino acid polymorphisms of insulin receptor substrate-1 in noninsulin-dependent diabetes mellitus. Lancet 1993; 342: 828-832.
17. Jellema A, Zeegers MP, Feskens EJ. Gly972Arg variant in the insulin receptor substrate-1 gene and association with type 2 diabetes: a meta-analysis of 27 studies. Diabetologia 2003; 46: 990-995.
18. Almind K, Inoue G, Pedersen O. A common amino acid polymorphism in insulin receptor substrate-1 causes impaired insulin signaling. Evidence from transfection studies. J Clin Invest 1996; 97: 2569-2575.
19. Hribal ML, Federici M, Porzio O et al. The Gly-Arg972 amino acid polymorphism in insulin receptor substrate-1 affects glucose metabolism in skeletal muscle cells. J Clin Endocrinol Metab 2000; 85: 2004-2013.
20. Federici M, Petrone A, Porzio O et al. The Gly972-Arg IRS-1 variant is associated with type 1 diabetes in continental Italy. Diabetes 2003; 52: 887-890.
21. Orkunoglu Suer FE, Mergen H, Bolu E. Molecular scanning for mutations in the insulin receptor substrate-1 (IRS-1) gene in Turkish with type 2 diabetes mellitus. Endocr J 2005; 52: 593-598.
22. Aynacioglu AS, Brockmöller J, Bauer S et al. Frequency of cytochrome P450 CYP2C9 variants in a Turkish population and functional relevance for phenytoin. Br J Clin Pharmacol 1999; 48: 409-415.
23. Imai Y, Fusco A, Suzuki Y et al. Variant sequences of insulin receptor substrate-1 in patients with noninsulin-dependent diabetes mellitus. J Clin Endocrinol Metab 1994; 79: 1655-1658.
24. Hitman GA, Hawrami K, McCarthy MI et al. Insulin receptor substrate-1 gene mutations in NIDDM; implications for the study of polygenic disease. Diabetologia 1995; 38: 481-486.
25. Zhang Y, Wat N, Stratton IM et al. UKPDS 19: heterogeneity in NIDDM: separate contributions of IRS-1 and beta 3-adrenergic-receptor mutations to insulin resistance and obesity respectively with no evidence for glycogen synthase gene mutations. UK Prospective Diabetes Study. Diabetologia 1996; 39: 1505-1511.
26. Ura S, Araki E, Kishikawa H et al. Molecular scanning of the insulin receptor substrate-1 (IRS-1) gene in Japanese patients with NIDDM: identification of five novel polymorphisms. Diabetologia 1996; 39: 600-608.
27. Laakso M, Malkki M, Kekalainen P. Insulin receptor substrate-1 variants in non-insulin-dependent diabetes. J Clin Invest 1994; 94: 1141-1146.
28. Yoshimura R, Araki E, Ura S et al. Impact of natural IRS-1 mutations on insulin signals: mutations of IRS-1 in the PTB domain and near SH2 protein binding sites result in impaired function at different steps of IRS-1 signaling. Diabetes 1997; 46: 929-936.
29. Imai Y, Philippe N, Sesti G. Expression of variant forms of insulin receptor substrate-1 identified in patients with noninsulin-dependent diabetes mellitus. J Clin Endocrinol Metab 1997; 82: 4201-4217.