Decreased tolbutamide-stimulated insulin secretion in healthy subjects with sequence variants in the high-affinity sulfonylurea receptor gene

Diabetes

Volumn 47, Issue 4, 1998, Pages 598-605

  Hansen, Torben ^a   Echwald, Søren M ^a   Hansen, Lars ^a   Møller, Ann M ^a   Almind, Katrine ^a   Clausen, Jesper O ^b   Urhammer, Søren A ^a   Inone, Hiroshi ^c   Ferrer, Jorge ^c   Bryan, Joseph ^d   Aguilar Bryan, Lydia ^d   Permutt, M Alan ^c   Pedersen, Oluf ^a  

^a STENO DIABETES CENTER   (Denmark)

^b The Capital Region   (Denmark)

^c WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

C PEPTIDE; GLUCOSE; INSULIN; RECEPTOR; SULFONYLUREA; TOLBUTAMIDE;

ARTICLE; CONTROLLED STUDY; EXON; GENE FREQUENCY; GENETIC VARIABILITY; GENOTYPE; HUMAN; INSULIN RELEASE; INTRAVENOUS GLUCOSE TOLERANCE TEST; INTRON; MAJOR CLINICAL STUDY; NON INSULIN DEPENDENT DIABETES MELLITUS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ATP-BINDING CASSETTE TRANSPORTERS; DIABETES MELLITUS, TYPE 2; EXONS; FEMALE; GENOTYPE; GLUCOSE TOLERANCE TEST; HUMANS; INSULIN; INTRONS; MALE; MOLECULAR SEQUENCE DATA; POINT MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; POTASSIUM CHANNELS; POTASSIUM CHANNELS, INWARDLY RECTIFYING; RECEPTORS, DRUG; TOLBUTAMIDE;

EID: 0031925068     PISSN: 00121797     EISSN: None     Source Type: Journal    
DOI: 10.2337/diabetes.47.4.598     Document Type: Article

References (35)

1. Turner RC, Hattersley AT, Shaw JTE, Levy JC: Type II diabetes: clinical aspects of molecular biological studies. Diabetes 44:1-10, 1995
2. DeFronzo RA, Bonadonna RC, Ferrannini E: Pathogenesis of NIDDM: a balanced overview. Diabetes Care 15:318-368, 1992
3. Accili D, Cama A, Barbetti F, Kadowaki H, Kadowaki T, Taylor SI: Insulin resistance due to mutations of the insulin-receptor gene: an overview. J Endocrinol Invest 15:857-864, 1992
4. Leu(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness. Nature Genet 1:368-371, 1992
5. Almind K, Bjørbæk C, Vestergaard H, Hansen T, Echwald S, Pedersen O: Aminoacid polymorphisms of insulin receptor substrate-1 in non-insulin-dependent diabetes mellitus. Lancet 342:828-832, 1993
6. Hager J, Hansen L, Vaisse C, Vionnet N, Philippi A, Poller W, Velho G, Carcassi C, Contu L, Julier C, Cambien F, Passa P, Lathrop M, Kindsvogel W, Demenais F, Nishimura E, Froguel P: A missense mutation in the glucagon receptor gene is associated with non-insulin-dependent diabetes mellitus. Nature Genet 9:299-304, 1995
7. Ashcroft SJ, Ashcroft FM: Properties and functions of ATP-sensitive K-channels. Cell Signals 2:197-214, 1990
8. Aguilar-Bryan L, Nichols CG, Wechsler SW, Clement JP, Boyd AE, Gonzales G, Herrerasosa H, Nguy K, Bryan J, Nelson DA: Cloning of the b cell high-affinity sulfonylurea receptor: a regulator of insulin secretion. Science 268:423-426, 1995
9. KATP: an inward rectifier subunit plus the sulfonylurea receptor. Science 270:1166-1170, 1995
10. Thomas PM, Cote GJ, Wohllk N, Haddad B, Mathew PM, Rabl W, Aguilar-Bryan L, Gagel RF, Bryan J: Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy. Science 268:426-429, 1995
11. Inoue H, Ferrer J, Wellin CM, Elbein SC, Hoffinan M, Mayorga R, Warren-Perry M, Zhang Y, Millns H, Turner R, Province M, Bryan J, Permutt MA, Aguilar-Bryan L: Sequence variants in the sulfonylurea receptor (SUR) gene are associated with NIDDM in Caucasians. Diabetes 45:825-831, 1996
12. Clausen JO, Borch-Johnsen K, Ibsen H, Bergman RN, Hougaard P, Winther K, Pedersen O: Insulin sensitivity index, acute insulin response, and glucose effectiveness in a population-based sample of 380 young healthy Caucasians: analysis of the impact of gender, body fat, physical fitness, and life-style factors. J Clin Invest 98:1195-1205, 1996
13. Pacini G, Bergman RN: MINMOD: a computer program to calculate insulin sensitivity and pancreatic responsivity from the frequently sampled intravenous glucose tolerance test Comput Methods Progr Biomed 23:113-122, 1986
14. Steil GM, Vølund A, Kahn SE, Bergman RN: Reduced sample number for calculation of insulin sensitivity and glucose effectiveness from the minimal model: suitability for use in population studies. Diabetes 42:250-256, 1993
15. Andersen L, Dinesen B, Jørgensen PN, Poulsen F, Røder ME: Enzyme immunoassay for intact human insulin in serum or plasma. Clin Chem 39:578-582, 1993
16. Heding LG: Radioimmunological determination of human C-peptide in serum. Diabetologia 11:541-548, 1975
17. Faber OK, Marcussen J, Naithani VK, Binder C: Production of antisera to synthetic benzyloxycarbonyl-C-peptide. Hoppe-Seylor's Z Physiol Chem 357:751-757, 1976
18. Faber OK, Binder C, Marcussen J, Heding LG, Naithani VK, Kuzuya H, Blix P, Horwitz DL, Rubenstein AH: Characterization of seven C-peptide antisera. Diabetes 27 (Suppl. 1):170-177, 1978
19. Miller SA, Dykes DD, Polesky HF: A simple procedure for extracting DNA from human nucleated cells. Nucleic Acid Res 16:1215-1216, 1988
20. Hansen L, Hansen T, Vestergaard H, Bjørbæk C, Echwald SM, Clausen JO, Chen YH, Chen MX, Cohen PTW, Pedersen O: A widespread amino acid polymorphism at codon 905 of the glycogen-associated regulatory subunit of protein phosphatase-1 is associated with insulin resistance and hypersecretion of insulin. Hum Mol Genet 4:1313-1320, 1995
21. Stirling B, Cox NJ, Bell GI, Hanis CL, Spielman RS, Concannon P: Linkage studies in NIDDM patients with markers near the sulphonylurea receptor gene. Diabetologia 38:1479-1481, 1995
22. Hani EH, Clément K, Velho G, Vionnet N, Hager J, Philippi A, Dina C, Inoue H, Permutt MA, Basdevant A, North M, Demenais F, Guy-Grand B, Froguel P: Genetic studies of the sulfonylurea receptor gene locus in NIDDM and in morbid obesity among French Caucasians. Diabetes 46:688-694, 1997
23. Galli J, Li L, Glaser A, Östenson CG, Jiao H, Fakhrai-Rad H, Jacob HJ, Lander ES, Luthman H: Genetic analysis of non-insulin dependent diabetes mellitus in the GK rat Nature Genet 12:31-37, 1996
24. Gauguier D, Froguel P, Parent V, Bernard C, Bihoreau MT, Portha B, James MR, Penicaud L, Lathrop M, Ktorza A: Genetic analysis of non-insulin dependent diabetes mellitus in the GK rat. Nature Genet 12:38-43, 1996
25. Stern MP, Ravindranath D, Braxton DM, Reinhart LJ, Shivakumar S, Shipman PA, Uresandi OC, Benavides E, Lanero J, O'Connell P: Evidence for linkage of regions on chromosomes 6 and 11 to plasma glucose concentrations in Mexican Americans. Genome Res 6:724-734, 1996
26. Sakura H, Wat N, Horton V, Milns H, Turner RC, Ashcroft KM: Sequence variations in the human Kir6.2 gene, a subunit of the beta-cell ATP-sensitive K-channel: no association with NIDDM in white Caucasian subjects or evidence of abnormal function when expressed in vitro. Diabetologia 39:1233-1236, 1996
27. Hansen L, Echwald SM, Hansen T, Urhammer SA, Clausen JO, Pedersen O: Amino acid polymorphisms in the ATP-regulatable inward rectifier Kir6.2 and their relationships to glucose- and tolbutamide-induced insulin secretion, the insulin sensitivity index, and NIDDM. Diabetes 46:508-512, 1997
28. + channel Kir6.2 (Bir) gene: identification and lack of role in Caucasian patients with NIDDM. Diabetes 46:502-507, 1997
29. Henriksen JE, Alford F, Handberg A, Vaag A, Ward GM, Kalfas A, Beck-Nielsen H: Increased glucose effectiveness in normoglycemic but insulin-resistant relatives of patients with non-insulin-dependent diabetes mellitus: a novel compensatory mechanism. J Clin Invest 94:1196-1204, 1994
30. Nestorowicz A, Wilson BA, Schoor KP, Inoue H, Glaser B, Landau H, Stanley CA, Thornton S, Clement IV JP, Bryan J, Aguilar-Bryan L, Permutt MA: Mutations in the sulfonylurea receptor gene are associated with familial hyperinsulinism in Ashkenazi Jews. Hum Mol Genet 5:1813-1822, 1996
31. Virsolvy-Vergine A, Leray H, Kuroki S, Lupo B, Dufour M, Bataille D: Endosulphine, an endogenous peptidic ligand for the sulfonylurea receptor purification and partial characterization from bovine brain. Proc Natl Acad Sci USA 89:6629-6633, 1992
32. Virsolvy-Vergine A, Salazar G, Sillard R, Denoroy L, Mutt V, Bataille D: Endosulfine, endogenous ligand for the sulphonylurea receptor isolation from porcine brain and partial structural determination of the a form. Diabetologia 39:135-141, 1996
33. Risch N, Merikangas K: The future of genetic studies of complex human diseases. Science 273:1516-1517, 1996
34. Cox N, Bell GI: Disease associations: chance, artefact, or susceptibility genes? Diabetes 38:947-950, 1989
35. Zemel S, Bartolomei MS, Tilghman SM: Physical linkage of two mammalian imprinted genes, H19 and insulin-like growth factor 2. Nature Genet 2:61-65, 1992