SNPs in the KCNJ11-ABCC8 gene locus are associated with type 2 diabetes and blood pressure levels in the Japanese population

Journal of Human Genetics

Volumn 52, Issue 10, 2007, Pages 781-793

  Sakamoto, Yukiko ^a   Inoue, Hiroshi ^a   Keshavarz, Parvaneh ^a   Miyawaki, Katsuyuki ^a   Yamaguchi, Yuka ^a   Moritani, Maki ^a   Kunika, Kiyoshi ^a   Nakamura, Naoto ^b   Yoshikawa, Toshikazu ^b   Yasui, Natsuo ^a   Shiota, Hiroshi ^a   Tanahashi, Toshihito ^a   Itakura, Mitsuo ^a  

^a UNIVERSITY OF TOKUSHIMA   (Japan)

^b KYOTO PREFECTURAL UNIVERSITY OF MEDICINE   (Japan)

Author keywords

ABCC8; Blood pressure; Genetic association study; Japanese population; KCNJ11; Type 2 diabetes

Indexed keywords

ABCC8 GENE; ADULT; AGED; ARTICLE; BLOOD PRESSURE; CLINICAL TRIAL; FEMALE; GENE; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENE LOCUS; GENETIC ASSOCIATION; GENETIC MODEL; GENETIC SUSCEPTIBILITY; HAPLOTYPE; HUMAN; HYPERTENSION; JAPANESE; KCNJ11 GENE; MAJOR CLINICAL STUDY; MALE; META ANALYSIS; NON INSULIN DEPENDENT DIABETES MELLITUS; POPULATION RESEARCH; SINGLE NUCLEOTIDE POLYMORPHISM; SYSTEMATIC REVIEW;

AGED; ASIAN CONTINENTAL ANCESTRY GROUP; ATP-BINDING CASSETTE TRANSPORTERS; BLOOD PRESSURE; DIABETES MELLITUS, TYPE 2; FEMALE; HUMANS; JAPAN; MALE; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE; POTASSIUM CHANNELS; POTASSIUM CHANNELS, INWARDLY RECTIFYING; RECEPTORS, DRUG;

EID: 34848895423     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10038-007-0190-x     Document Type: Article

References (31)

1. Aguilar-Bryan L, Clement JP, Gonzalez G, Kunjilwar K, Babenko A, Bryan J (1998) Toward understanding the assembly and structure of KATP channels. Physiol Rev 78:227-245
2. Brayden JE (2002) Functional roles of KATP channels in vascular smooth muscle. Clin Exp Pharmacol Physiol 29:312-316
3. Florez JC, Burtt N, de Bakker PI, Almgren P, Tuomi T, Holmkvist J, Gaudet D, Hudson TJ, Schaffner SF, Daly MJ, Hirschhorn JN, Groop L, Altshuler D (2004) Haplotype structure and genotype-phenotype correlations of the sulfonylurea receptor and the islet ATP-sensitive potassium channel gene region. Diabetes 53:1360-1368
4. Florez JC, Jablonski KA, Kahn SE, Franks PW, Dabelea D, Hamman RF, Knowler WC, Nathan DM, Altshuler D (2007) 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 56:531-536
5. Gabriel SB, Schaffner SF, Nguyen H, Moore JM, Roy J, Blumenstiel B, Higgins J, DeFelice M, Lochner A, Faggart M, Liu-Cordero SN, Rotimi C, Adeyemo A, Cooper R, Ward R, Lander ES, Daly MJ, Altshuler D (2002) The structure of haplotype blocks in the human genome. Science 296:2225-2229
6. Gloyn AL, Siddiqui J, Ellard S (2006) Mutations in the genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) in diabetes mellitus and hyperinsulinism. Hum Mutat 27:220-231
7. Gloyn AL, Weedon MN, Owen KR, Turner MJ, Knight BA, Hitman G, Walker M, Levy JC, Sampson M, Halford S, McCarthy MI, Hattersley AT, Frayling TM (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 52:568-572
8. Gribble FM, Reimann F (2003) Sulphonylurea action revisited: the post-cloning era. Diabetologia 46:875-891
9. Hani EH, Boutin P, Durand E, Inoue H, Permutt MA, Velho G, Froguel P (1998) Missense mutations in the pancreatic islet beta cell inwardly rectifying K+ channel gene (KIR6.2/BIR): a meta-analysis suggests a role in the polygenic basis of type II diabetes mellitus in Caucasians. Diabetologia 41:1511-1515
10. Hattersley AT, Ashcroft FM (2005) Activating mutations in Kir6.2 and neonatal diabetes: new clinical syndromes, new scientific insights, and new therapy. Diabetes 54:2503-2513
11. Kane GC, Liu XK, Yamada S, Olson TM, Terzic A (2005) Cardiac KATP channels in health and disease. J Mol Cell Cardiol 38:937-943
12. Keshavarz P, Inoue H, Sakamoto Y, Kunika K, Tanahashi T, Nakamura N, Yoshikawa T, Yasui N, Shiota H, Itakura M (2006) No evidence for association of the ENPP1 (PC-1) K121Q variant with risk of type 2 diabetes in a Japanese population. J Hum Genet 51:559-566
13. Kokubo Y, Tomoike H, Tanaka C, Banno M, Okuda T, Inamoto N, Kamide K, Kawano Y, Miyata T (2006) Association of sixty-one non-synonymous polymorphisms in forty-one hypertension candidate genes with blood pressure variation and hypertension. Hypertens Res 29:611-619
14. Koo BK, Cho YM, Park BL, Cheong HS, Shin HD, Jang HC, Kim SY, Lee HK, Park KS (2007) Polymorphisms of KCNJ11 (Kir6.2 gene) are associated with Type 2 diabetes and hypertension in the Korean population. Diabet Med 24:178-186
15. Koster JC, Permutt MA, Nichols CG (2005) Diabetes and insulin secretion: the ATP-sensitive K+ channel (K ATP) connection. Diabetes 54:3065-3072
16. Lillienfeld AM, Lillienfeld DE (1980) Foundations of epidemiology, 2nd edn. Oxford University Press, New York
17. Liu Z, Zhang YW, Feng QP, Li YF, Wu GD, Zuo J, Xiao XH, Fang FD (2006) Association analysis of 30 type 2 diabetes candidate genes in Chinese Han population. Zhongguo Yi Xue Ke Xue Yuan Xue Bao 28:124-128
18. Miki T, Liss B, Minami K, Shiuchi T, Saraya A, Kashima Y, Horiuchi M, Ashcroft F, Minokoshi Y, Roeper J, Seino S (2001) ATP-sensitive K+ channels in the hypothalamus are essential for the maintenance of glucose homeostasis. Nat Neurosci 4:507-512
19. Nielsen EM, Hansen L, Carstensen B, Echwald SM, Drivsholm T, Glumer C, Thorsteinsson B, Borch-Johnsen K, Hansen T, Pedersen O (2003) The E23K variant of Kir6.2 associates with impaired post-OGTT serum insulin response and increased risk of type 2 diabetes. Diabetes 52:573-577
20. Reimann F, Gribble FM (2002) Glucose-sensing in glucagon-like peptide-1-secreting cells. Diabetes 51:2757-2763
21. Riedel MJ, Boora P, Steckley D, de Vries G, Light PE (2003) Kir6.2 polymorphisms sensitize beta-cell ATP-sensitive potassium channels to activation by acyl CoAs: a possible cellular mechanism for increased susceptibility to type 2 diabetes? Diabetes 52:2630-2635
22. Riedel MJ, Steckley DC, Light PE (2005) Current status of the E23K Kir6.2 polymorphism: implications for type-2 diabetes. Hum Genet 116:133-145
23. Schwanstecher C, Meyer U, Schwanstecher M (2002a) K(IR)6.2 polymorphism predisposes to type 2 diabetes by inducing overactivity of pancreatic beta-cell ATP-sensitive K(+) channels. Diabetes 51:875-879
24. Schwanstecher C, Neugebauer B, Schulz M, Schwanstecher M (2002b) The common single nucleotide polymorphism E23K in K(IR)6.2 sensitizes pancreatic beta-cell ATP-sensitive potassium channels toward activation through nucleoside diphosphates. Diabetes 51(Suppl 3):S363-S367
25. Schwanstecher C, Schwanstecher M (2002) Nucleotide sensitivity of pancreatic ATP-sensitive potassium channels and type 2 diabetes. Diabetes 51(Suppl 3):S358-S362
26. Seino S, Miki T (2003) Physiological and pathophysiological roles of ATP-sensitive K+ channels. Prog Biophys Mol Biol 81:133-176
27. Storey JD, Tibshirani R (2003) Statistical significance for genomewide studies. Proc Natl Acad Sci USA 100:9440-9445
28. Tanahashi T, Osabe D, Nomura K, Shinohara S, Kato H, Ichiishi E, Nakamura N, Yoshikawa T, Takata Y, Miyamoto T, Shiota H, Keshavarz P, Yamaguchi Y, Kunika K, Moritani M, Inoue H, Itakura M (2006) Association study on chromosome 20q11.21-13.13 locus and its contribution to type 2 diabetes susceptibility in Japanese. Hum Genet 120:527-542
29. Yamada Y, Kuroe A, Li Q, Someya Y, Kubota A, Ihara Y, Tsuura Y, Seino Y (2001) Genomic variation in pancreatic ion channel genes in Japanese type 2 diabetic patients. Diabetes Metab Res Rev 17:213-216
30. Yokoi N, Kanamori M, Horikawa Y, Takeda J, Sanke T, Furuta H, Nanjo K, Mori H, Kasuga M, Hara K, Kadowaki T, Tanizawa Y, Oka Y, Iwami Y, Ohgawara H, Yamada Y, Seino Y, Yano H, Cox NJ, Seino S (2006) Association studies of variants in the genes involved in pancreatic beta-cell function in type 2 diabetes in Japanese subjects. Diabetes 55:2379-2386
31. Zingman LV, Hodgson DM, Bast PH, Kane GC, Perez-Terzic C, Gumina RJ, Pucar D, Bienengraeber M, Dzeja PP, Miki T, Seino S, Alekseev AE, Terzic A (2002) Kir6.2 is required for adaptation to stress. Proc Natl Acad Sci USA 99:13278-13283