The type 2 diabetes associated minor allele of rs2237895 KCNQ1 associates with reduced insulin release following an oral glucose load

PLoS ONE

Volumn 4, Issue 6, 2009, Pages

  Holmkvist, Johan ^a   Banasik, Karina ^a   Andersen, Gitte ^a   Unoki, Hiroyuki ^b   Jensen, Thomas Skot ^c   Pisinger, Charlotta ^d   Borch Johnsen, Knut ^e,f   Sandbæk, Annelli ^f   Lauritzen, Torsten ^f   Brunak, Sören ^c   Maeda, Shiro ^b   Hansen, Torben ^a,g   Pedersen, Oluf ^a,f,h  

^a HAGEDORN RESEARCH INSTITUTE   (Denmark)

^b RIKEN   (Japan)

^c TECHNICAL UNIVERSITY OF DENMARK   (Denmark)

^d GLOSTRUP UNIVERSITY HOSPITAL   (Denmark)

^e STENO DIABETES CENTER   (Denmark)

^f AARHUS UNIVERSITY   (Denmark)

^g UNIVERSITY OF SOUTHERN DENMARK   (Denmark)

^h UNIVERSITY OF COPENHAGEN   (Denmark)

Author keywords

[No Author keywords available]

Indexed keywords

GLUCOSE; INSULIN; POTASSIUM CHANNEL KCNQ1; KCNQ1 PROTEIN, HUMAN;

ADULT; ALLELE; ARTICLE; CAUCASIAN; CELL FUNCTION; CONTROLLED STUDY; DISEASE ASSOCIATION; FEMALE; GENETIC MODEL; GENOTYPE; GLUCOSE TOLERANCE; HUMAN; INSULIN BLOOD LEVEL; INSULIN RELEASE; INSULIN SENSITIVITY; LINEAR REGRESSION ANALYSIS; MALE; MIDDLE AGED; NON INSULIN DEPENDENT DIABETES MELLITUS; ORAL GLUCOSE TOLERANCE TEST; PANCREAS ISLET BETA CELL; PROTEIN POLYMORPHISM; SAMPLE SIZE; BIOLOGICAL MODEL; BIOLOGY; CASE CONTROL STUDY; GENETIC POLYMORPHISM; GENETICS; GLUCOSE TOLERANCE TEST; METABOLISM; METHODOLOGY; MULTIVARIATE ANALYSIS; PATHOLOGY; PROTEIN ANALYSIS;

ALLELES; CASE-CONTROL STUDIES; COMPUTATIONAL BIOLOGY; DIABETES MELLITUS, TYPE 2; GENOTYPE; GLUCOSE; GLUCOSE TOLERANCE TEST; HUMANS; INSULIN; INSULIN-SECRETING CELLS; KCNQ1 POTASSIUM CHANNEL; MODELS, GENETIC; MULTIVARIATE ANALYSIS; POLYMORPHISM, GENETIC; PROTEIN INTERACTION MAPPING;

EID: 67649974089     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0005872     Document Type: Article

References (37)

1. Alberti KG, Zimmet PZ (1998) Definition, diagnosis and classification of diabetes mellitus and its complications. Part 1: diagnosis and classification of diabetes mellitus provisional report of a WHO consultation. Diabetic Medicine 15: 539-53.
2. Jacobson DA, Philipson LH (2007) Action potentials and insulin secretion: new insights into the role of Kv channels. Diabetes Obesity and Metabolism 9: 89-98.
3. Kanno T, Rorsman P, Gopel SO (2002) Glucose-dependent regulation of rhythmic action potential firing in pancreatic beta-cells by KATP-channel modulation. J Physiol 545: 501-507.
4. MacDonald PE, Ha XF, Wang J, Smukler SR, Sun AM, et al. (2001) Members of the Kv1 and Kv2 Voltage-Dependent K+ Channel Families Regulate Insulin Secretion. Mol Endocrinol 15: 1423-1435.
5. MacDonald PE, Sewing S, Wang J, Joseph JW, Smukler SR, et al. (2002) Inhibition of Kv2.1 Voltage-dependent K+ Channels in Pancreatic beta -Cells Enhances Glucose-dependent Insulin Secretion. J Biol Chem 277: 44938-44945.
6. Roe MWm, Worley JF III, Mittal AA, Kuznetsov A, DasGupta S, et al. (1996) Expression and Function of Pancreatic beta -Cell Delayed Rectifier K+ Channels. Role in Stimulus-Secretion Coupling. J Biol Chem 271: 32241-32246.
7. Zhang M, Houamed K, Kupershmidt S, Roden D, Satin LS (2005) Pharmacological Properties and Functional Role of Kslow Current in Mouse Pancreatic {beta}-Cells: SK Channels Contribute to Kslow Tail Current and Modulate Insulin Secretion. J Gen Physiol 126: 353-363.
8. Gloyn AL, Weedon MN, Owen KR, Turner MJ, Knight BA, et al. (2003) 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 52: 568-72.
9. Holmkvist J, Tojjar D, Almgren P, Lyssenko V, Lindgren C, et al. (2007) Polymorphisms in the gene encoding the voltage-dependent Ca2+ channel CaV2.3 (CACNA1E) are associated with type 2 diabetes and impaired insulin secretion. Diabetologia 50: 2467-2475.
10. Saxena R, Voight BF, Lyssenko V, Burtt NP, de Bakker PIW, et al. (2007) Genome-wide association analysis identifies loci for Type 2 Diabetes and triglyceride levels. Science 316: 1331-1336.
11. Scott LJ, Mohlke KL, Bonnycastle LL, Willer CJ, Li Y, et al. (2007) A genome-wide association study of Type 2 Diabetes in Finns detects multiple susceptibility variants. Science 316: 1341-1345.
12. Sladek R, Rocheleau G, Rung J, Dina C, Shen L, et al. (2007) A genome-wide association study identifies novel risk loci for type 2 diabetes. Nature 445: 881-885.
13. Steinthorsdottir V, Thorleifsson G, Reynisdottir I, Benediktsson R, Jonsdottir T, et al. (2007) A variant in CDKAL1 influences insulin response and risk of type 2 diabetes. Nat Genet 39: 770-775.
14. Zeggini E, Weedon MN, Lindgren CM, Frayling TM, Elliott KS, et al. (2007) Replication of genome-wide association signals in UK samples reveals risk loci for Type 2 Diabetes. Science 316: 1336-1341.
15. Unoki H, Takahashi A, Kawaguchi T, Hara K, Horikoshi M, et al. (2008) SNPs in KCNQ1 are associated with susceptibility to type 2 diabetes in East Asian and European populations. Nat Genet 40: 1098-1102.
16. Yasuda K, Miyake K, Horikawa Y, Hara K, Osawa H, et al. (2008) Variants in KCNQ1 are associated with susceptibility to type 2 diabetes mellitus. Nat Genet advanced online publication.
17. Nielsen E-M, Hansen L, Stissing T, Yanagisawa K, Borch-Johnsen K, et al. (2005) Studies of variations of the cyclin-dependent kinase inhibitor 1C and the cyclin-dependent kinase 4 genes in relation to type 2 diabetes mellitus and related quantitative traits. Journal of Molecular Medicine 83: 353-361.
18. Mori Y, Otabe S, Dina C, Yasuda K, Populaire C, et al. (2002) Genome-Wide Search for Type 2 Diabetes in Japanese Affected Sib-Pairs Confirms Susceptibility Genes on 3q, 15q, and 20q and Identifies Two New Candidate Loci on 7p and 11p. Diabetes 51: 1247-1255.
19. Neyroud N, Tesson F, Denjoy I, Leibovici M, Donger C, et al. (1997) A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome. Nature Genetics 15: 186-189.
20. Chouabe C, Neyroud N, Guicheney P, Lazdunski M, Romey G, et al. (1997) Properties of KvLQT1 K+ channel mutations in Romano-Ward and Jervell and Lange-Nielsen inherited cardiac arrhythmias. Embo J 16: 5472-9.
21. Newton-Cheh C, Eijgelsheim M, Rice KM, de Bakker PIW, Yin X, et al. (2009) Common variants at ten loci influence QT interval duration in the QTGEN Study. Nat Genet 41: 399-406.
22. Pfeufer A, Sanna S, Arking DE, Muller M, Gateva V, et al. (2009) Common variants at ten loci modulate the QT interval duration in the QTSCD Study. Nat Genet 41: 407-414.
23. Robbins J (2001) KCNQ potassium channels: physiology, pathophysiology, and pharmacology. Pharmacol Ther 90: 1-19.
24. Grunnet M, Olesen SP, Klaerke DA, Jespersen T (2005) hKCNE4 inhibits the hKCNQ1 potassium current without affecting the activation kinetics. Biochem Biophys Res Commun 328: 1146-53.
25. Ullrich S, Su J, Ranta F, Wittekindt O, Ris F, et al. (2005) Effects of IKs channel inhibitors in insulin-secreting INS-1 cells. Pflugers Archiv European Journal of Physiology 451: 428-436.
26. Veglio M, Chinaglia A, Cavallo-Perin P (2004) QT interval, cardiovascular risk factors and risk of death in diabetes. J Endocrinol Invest 27: 175-81.
27. Moss A, Schwartz P, Crampton R, Tzivoni D, Locati E, et al. (1991) The long QT syndrome. Prospective longitudinal study of 328 families. Circulation 84: 1136-1144.
28. Lage K, Karlberg EO, Storling ZM, Olason PI, Pedersen AG, et al. (2007) A human phenome-interactome network of protein complexes implicated in genetic disorders. Nat Biotech 25: 309-316.
29. Marx SO, Kurokawa J, Reiken S, Motoike H, D'Armiento J, et al. (2002) Requirement of a Macromolecular Signaling Complex for beta Adrenergic Receptor Modulation of the KCNQ1-KCNE1 Potassium Channel. Science 295: 496-499.
30. Chen L, Marquardt ML, Tester DJ, Sampson KJ, Ackerman MJ, et al. (2007) Mutation of an A-kinase-anchoring protein causes long-QT syndrome. Proc Natl Acad Sci U S A 104: 20990-20995.
31. Lester LB, Langeberg LK, Scott JD (1997) Anchoring of protein kinase A facilitates hormone-mediated insulin secretion. Proc Natl Acad Sci U S A 94: 14942-14947.
32. Grarup N, Rose CS, Andersson EA, Andersen G, Nielsen AL, et al. (2007) Studies of association of variants near the HHEX, CDKN2A/B, and IGF2BP2 genes with Type 2 diabetes and impaired insulin release in 10,705 Danish subjects: validation and extension of genome-wide association studies. Diabetes 56: 3105-3111.
33. Tan JT, Nurbaya S, Gardner D, Sandra Y, Tai ES, et al. (2009) Genetic variation in KCNQ1 associates with fasting glucose and beta-cell function: A study of 3734 subjects comprising three ethnicities living in Singapore. Diabetes 2009 Feb 27 [Epub ahead of print].
34. Jørgensen T, Borch-Johnsen K, Thomsen TF, Ibsen H, Glumer C, et al. (2003) A randomized non-pharmacological intervention study for prevention of ischaemic heart disease: baseline results Inter99. European Journal of Cardiovascular Prevention & Rehabilitaion 10: 377-386.
35. Hansen T, Drivsholm T, Urhammer SA, Palacios RT, Välund A, et al. (2007) The BIGTT Test: A novel test for simultaneous measurement of pancreatic beta-cell function, insulin sensitivity, and glucose tolerance. Diabetes Care 30: 257-262.
36. Hotelling H (1931) The generalization of student's ratio. Ann Math Statist 2: 360-378.
37. Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MAR, et al. (2007) PLINK: A Tool Set for Whole-Genome Association and Population-Based Linkage Analyses. American Journal of Human Genetics 81: 559-575.