Polymorphisms of KCNJ11 (Kir6.2 gene) are associated with Type 2 diabetes and hypertension in the Korean population

Diabetic Medicine

Volumn 24, Issue 2, 2007, Pages 178-186

  Koo, B K ^a,b   Cho, Y M ^a,b   Park, B L ^c   Cheong, H S ^c   Shin, H D ^c   Jang, H C ^a,b   Kim, S Y ^a,b   Lee, H K ^a,b   Park, K S ^a,b  

^a Seoul National University   (South Korea)

^b Seoul National University Hospital   (South Korea)

^c SNP Genetics Inc   (South Korea)

Author keywords

ATP sensitive potassium channel; Hypertension; Kir6.2 gene; Polymorphism; Type 2 diabetes

Indexed keywords

INWARDLY RECTIFYING POTASSIUM CHANNEL SUBUNIT KIR6.2;

ADULT; AGED; ARTICLE; CONTROLLED STUDY; DISEASE ASSOCIATION; DNA POLYMORPHISM; FEMALE; GENE LINKAGE DISEQUILIBRIUM; GENE SEQUENCE; GENETIC ASSOCIATION; GENOTYPE; HAPLOTYPE; HUMAN; HYPERTENSION; KOREA; MAJOR CLINICAL STUDY; MALE; NON INSULIN DEPENDENT DIABETES MELLITUS; PHENOTYPE; POLYMORPHIC LOCUS;

AGED; DIABETES MELLITUS, TYPE 2; DIABETIC ANGIOPATHIES; FEMALE; HUMANS; HYPERTENSION; KOREA; MALE; MIDDLE AGED; POLYMORPHISM, GENETIC; POTASSIUM CHANNELS, INWARDLY RECTIFYING; RISK FACTORS;

EID: 33846608291     PISSN: 07423071     EISSN: 14645491     Source Type: Journal    
DOI: 10.1111/j.1464-5491.2006.02050.x     Document Type: Article

References (33)

1. Bajgar R, Seetharaman S, Kowaltowski AJ, Garlid KD, Paucek P. Identification and properties of a novel intracellular (mitochondrial) ATP-sensitive potassium channel in brain. J Biol Chem 2001; 276: 33369-33374.
2. + channels in pancreatic, cardiac, and vascular smooth muscle cells. Am J Physiol 1998; 274: C25-37.
3. + channels. Prog Biophys Mol Biol 2003; 81: 133-176.
4. + channels: a link between B-cell metabolism and insulin secretion. Biochem Soc Trans 1990; 18: 109-111.
5. Barroso I, Luan J, Middelberg RP, Harding AH, Franks PW, Jakes RW et al. Candidate gene association study in type 2 diabetes indicates a role for genes involved in beta-cell function as well as insulin action. PLoS Biol 2003; 1: E20.
6. ATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) confirm that the KCNJ11 E23K variant is associated with type 2 diabetes. Diabetes 2003; 52: 568-572.
7. Alberti KG, Zimmet PZ. Definition, diagnosis and classification of diabetes mellitus and its complications. Part 1: diagnosis and classification of diabetes mellitus provisional report of a WHO consultation. Diabet Med 1998; 15: 539-553.
8. Eberle MA, Kruglyak L. An analysis of strategies for discovery of single-nucleotide polymorphisms. Genet Epidemiol 2000; 19: S29-35.
9. Livak KJ. Allelic discrimination using fluorogenic probes and the 5′ nuclease assay. Genet Anal 1999; 14: 143-149.
10. Storey JD, Tibshirani R. Statistical significance for genomewide studies. Proc Natl Acad Sci USA 2003; 100: 9440-9445.
11. Stephens M, Smith NJ, Donnelly P. A new statistical method for haplotype reconstruction from population data. Am J Hum Genet 2001; 68: 978-989.
12. Quandt K, Frech K, Karas H, Wingender E, Werner T. MatInd and MatInspector: new fast and versatile tools for detection of consensus matches in nucleotide sequence data. Nucleic Acids Res 1995; 23: 4878-4884.
13. Pichlmeier U, Gefeller O. Conceptual aspects of attributable risk with recurrent disease events. Stat Med 1997; 16: 1107-1120.
14. Belmont JW, Gibbs RA. Genome-wide linkage disequilibrium and haplotype maps. Am J Pharmacogenomics 2004; 4: 253-262.
15. Johnson GC, Esposito L, Barratt BJ, Smith AN, Heward J, Di Genova G et al. Haplotype tagging for the identification of common disease genes. Nat Genet 2001; 29: 233-237.
16. Florez JC, Burtt N, de Bakker PI, Almgren P, Tuomi T, Holmkvist J et al. Haplotype structure and genotype-phenotype correlations of the sulfonylurea receptor and the islet ATP-sensitive potassium channel gene region. Diabetes 2004; 53: 1360-1368.
17. Schaid DJ, Rowland CM, Tines DE, Jacobson RM, Poland GA. Score tests for association between traits and haplotypes when linkage phase is ambiguous. Am J Hum Genet 2002; 70: 425-434.
18. National Cholesterol Education Program (NCEP). Executive summary of the third report of the National Cholesterol Education Program (NCEP) expert panel on detection, evaluation, and treatment of high blood cholesterol in adults (Adult Treatment Panel III). J Am Med Assoc 2001; 285: 2486-2497.
19. International Obesity Task Force. The Asia-Pacific Perspective: Redefining Obesity and its Treatment. Sydney: Health Communications Australia, 2000.
20. Gloyn AL, Hashim Y, Ashcroft SJ, Ashfield R, Wiltshire S, Turner RC. 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: 206-212.
21. + channel gene (KIR6.2/BIR): a meta-analysis suggests a role in the polygenic basis of Type II diabetes mellitus in Caucasians. Diabetologia 1998; 41: 1511-1515.
22. Love-Gregory L, Wasson J, Lin J, Skolnick G, Suarez B, Permutt MA. E23K single nucleotide polymorphism in the islet ATP-sensitive potassium channel gene (Kir6.2) contributes as much to the risk of Type II diabetes in Caucasians as the PPARγ Pro12Ala variant. Diabetologia 2003; 46: 136-137.
23. + channel genes KCNJ11 (Kir6.2) and ABCC8 (SUR1) in relation to glucose intolerance: population-based studies and meta-analyses. Diabet Med 2005; 22: 590-598.
24. Zhu X, Yan D, Cooper RS, Luke A, Ikeda MA, Chang YP et al. Linkage disequilibrium and haplotype diversity in the genes of the renin-angiotensin system: findings from the family blood pressure program. Genome Res 2003; 13: 173-181.
25. ATP channel Kir6.2 subunit. EMBO J 2005; 24: 229-239.
26. + channels. Diabetes 2002; 51: 875-879.
27. ATP channels. J Gen Physiol 2002; 120: 437-446.
28. Schwanstecher C, Neugebauer B, Schulz M, Schwanstecher M. 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 2002; 51: S363-367.
29. + channels as metabolic sensors: studies of Kir6.x null mice. Diabetes 2004; 53: S176-80.
30. Miki T, Minami K, Zhang L, Morita M, Gonoi T, Shiuchi T et al. ATP-sensitive potassium channels participate in glucose uptake in skeletal muscle and adipose tissue. Am J Physiol Endocrinol Metab 2002; 283: E1178-1184.
31. ATP channels: muscular impact on type 2 diabetes. Diabetes 2005; 54: 1592-1597.
32. + channel Kir6.2 (Bir) gene: identification and lack of role in Caucasian patients with NIDDM. Diabetes 1997; 46: 502-507.
33. Reis AF, Ye WZ, Dubois-Laforgue D, Bellanne-Chantelot C, Timsit J, Velho G. Association of a variant in exon 31 of the sulfonylurea receptor 1 (SUR1) gene with type 2 diabetes mellitus in French Caucasians. Hum Genet 2000; 107: 138-144.