메뉴 건너뛰기




Volumn 2, Issue 3, 2008, Pages 185-191

The KCNJ11 E23K and ABCC8 exon 31 variants contribute to susceptibility to type 2 diabetes, glucose intolerance and altered insulin secretion in a Russian population

Author keywords

ABCC8; Glucose tolerance; Insulin secretion; KCNJ11; Russian population; Susceptibility; Type 2 diabetes

Indexed keywords

ADENOSINE; GENOMIC DNA; GLUCOSE; GUANOSINE; INSULIN; INWARDLY RECTIFYING POTASSIUM CHANNEL SUBUNIT KIR6.2;

EID: 47649131870     PISSN: 18714021     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.dsx.2008.04.002     Document Type: Article
Times cited : (4)

References (38)
  • 2
    • 0032788372 scopus 로고    scopus 로고
    • Molecular biology of adenosine triphosphate-sensitive potassium channels
    • Aguilar-Bryan L., and Bryan J. Molecular biology of adenosine triphosphate-sensitive potassium channels. Endocr Rev 20 (1999) 101-135
    • (1999) Endocr Rev , vol.20 , pp. 101-135
    • Aguilar-Bryan, L.1    Bryan, J.2
  • 3
    • 34547689503 scopus 로고    scopus 로고
    • Molecular cell biology of KATP channels: implications for neonatal diabetes
    • Smith A.J., Taneja T.K., Mankouri J., and Sivaprasadao A. Molecular cell biology of KATP channels: implications for neonatal diabetes. Expert Rev Mol Med 9 (2007) 1-17
    • (2007) Expert Rev Mol Med , vol.9 , pp. 1-17
    • Smith, A.J.1    Taneja, T.K.2    Mankouri, J.3    Sivaprasadao, A.4
  • 4
    • 35148847369 scopus 로고    scopus 로고
    • β-Cell hyperexcitability: from hyperinsulinism to diabetes
    • Nichols C.G., Koster J.C., and Remedi M.S. β-Cell hyperexcitability: from hyperinsulinism to diabetes. Diabetes Obes Metab 9 (2007) 81-88
    • (2007) Diabetes Obes Metab , vol.9 , pp. 81-88
    • Nichols, C.G.1    Koster, J.C.2    Remedi, M.S.3
  • 5
    • 0036314298 scopus 로고    scopus 로고
    • KIR6.2 polymorphism predisposes to type 2 diabetes by inducing overactivity of pancreatic β-cell ATP-sensitive K channels
    • Schwanstecher C., Meyer U., and Schwanstecher M. KIR6.2 polymorphism predisposes to type 2 diabetes by inducing overactivity of pancreatic β-cell ATP-sensitive K channels. Diabetes 51 (2002) 875-879
    • (2002) Diabetes , vol.51 , pp. 875-879
    • Schwanstecher, C.1    Meyer, U.2    Schwanstecher, M.3
  • 6
    • 0031773333 scopus 로고    scopus 로고
    • + channel gene (KIR6.2/BIR): a meta-analysis suggests a role in the polygenic basis of type II diabetes mellitus in Caucasians
    • + channel gene (KIR6.2/BIR): a meta-analysis suggests a role in the polygenic basis of type II diabetes mellitus in Caucasians. Diabetologia 41 (1998) 1511-1515
    • (1998) Diabetologia , vol.41 , pp. 1511-1515
    • Hani, E.H.1    Boutin, P.2    Durand, E.3    Inoue, H.4    Permutt, M.A.5    Velho, G.6
  • 7
    • 0035043009 scopus 로고    scopus 로고
    • 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)
    • Gloyn A.L., Hashim Y., Ashcroft S.J., Ashfield R., Wiltshire S., Turner R.C., et al. 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 18 (2003) 206-212
    • (2003) Diabet Med , vol.18 , pp. 206-212
    • Gloyn, A.L.1    Hashim, Y.2    Ashcroft, S.J.3    Ashfield, R.4    Wiltshire, S.5    Turner, R.C.6
  • 8
    • 0037317981 scopus 로고    scopus 로고
    • 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
    • Gloyn A.L., Weedon M.N., Owen K.R., Turner M.J., Knight B.A., Hitman G., et al. 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 (2003) 568-572
    • (2003) Diabetes , vol.52 , pp. 568-572
    • Gloyn, A.L.1    Weedon, M.N.2    Owen, K.R.3    Turner, M.J.4    Knight, B.A.5    Hitman, G.6
  • 9
    • 33847041796 scopus 로고    scopus 로고
    • Type 2 diabetes-associated missense polymorphisms KCNJ11 E23K and ABCC8 A1369S influence progression to diabetes and response to interventions in the Diabetes Prevention Program
    • Florez J.C., Jablonski K.A., Kahn S.E., Franks P.W., Dabelea D., Hamman R.F., et al. 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 (2007) 531-536
    • (2007) Diabetes , vol.56 , pp. 531-536
    • Florez, J.C.1    Jablonski, K.A.2    Kahn, S.E.3    Franks, P.W.4    Dabelea, D.5    Hamman, R.F.6
  • 10
    • 34848895423 scopus 로고    scopus 로고
    • SNPs in the KCNJ11-ABCC8 gene locus are associated with type 2 diabetes and blood pressure levels in the Japanese population
    • Sakamoto Y., Inoue H., Keshavarz P., Miyawaki K., Yamaguchi Y., Moritani M., et al. SNPs in the KCNJ11-ABCC8 gene locus are associated with type 2 diabetes and blood pressure levels in the Japanese population. J Hum Genet 52 (2007) 781-793
    • (2007) J Hum Genet , vol.52 , pp. 781-793
    • Sakamoto, Y.1    Inoue, H.2    Keshavarz, P.3    Miyawaki, K.4    Yamaguchi, Y.5    Moritani, M.6
  • 11
    • 35748940314 scopus 로고    scopus 로고
    • Impact of Kir6.2 E23K polymorphism on the development of type 2 diabetes in a general Japanese population: the Hisayama Study
    • Doi Y., Kubo M., Ninomiya T., Yonemeto K., Iwase M., Arima H., et al. Impact of Kir6.2 E23K polymorphism on the development of type 2 diabetes in a general Japanese population: the Hisayama Study. Diabetes 56 (2007) 2829-2833
    • (2007) Diabetes , vol.56 , pp. 2829-2833
    • Doi, Y.1    Kubo, M.2    Ninomiya, T.3    Yonemeto, K.4    Iwase, M.5    Arima, H.6
  • 12
    • 28444491099 scopus 로고    scopus 로고
    • Association of the E23K polymorphism in the KCNJ11 gene with gestational diabetes mellitus
    • Shaat N., Ekelund M., Lernmark A A., Ivarsson S., Almgren P., Berntorp K., et al. Association of the E23K polymorphism in the KCNJ11 gene with gestational diabetes mellitus. Diabetologia 48 (2005) 2544-2551
    • (2005) Diabetologia , vol.48 , pp. 2544-2551
    • Shaat, N.1    Ekelund, M.2    Lernmark A, A.3    Ivarsson, S.4    Almgren, P.5    Berntorp, K.6
  • 13
    • 0037312864 scopus 로고    scopus 로고
    • The E23K variant of Kir6.2 associates with impaired post-OGTT serum insulin response and increased risk of type 2 diabetes
    • Nielsen E.M., Hansen L., Carstensen B., Echwald S.M., Drivsholm T., Glumer C., et al. The E23K variant of Kir6.2 associates with impaired post-OGTT serum insulin response and increased risk of type 2 diabetes. Diabetes 52 (2003) 573-577
    • (2003) Diabetes , vol.52 , pp. 573-577
    • Nielsen, E.M.1    Hansen, L.2    Carstensen, B.3    Echwald, S.M.4    Drivsholm, T.5    Glumer, C.6
  • 14
    • 2342561802 scopus 로고    scopus 로고
    • Haplotype structure and genotype-phenotype correlations of the sulfonylurea receptor and the islet ATP-sensitive potassium channel gene region
    • Florez J.C., Burtt N., de Bakker P.I.W., 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 53 (2004) 1360-1368
    • (2004) Diabetes , vol.53 , pp. 1360-1368
    • Florez, J.C.1    Burtt, N.2    de Bakker, P.I.W.3    Almgren, P.4    Tuomi, T.5    Holmkvist, J.6
  • 17
    • 10344246071 scopus 로고    scopus 로고
    • Polymorphisms of the SUR1 (ABCC8) and Kir6.2 (KCNJ11) genes predict the conversion from impaired glucose tolerance to type 2 diabetes. The Finnish Diabetes Prevention Study
    • Laukkanen O., Pihlajamaki J., Lindstrom J., Eriksson J., Valle T.T., Hamalainen H., et al. Polymorphisms of the SUR1 (ABCC8) and Kir6.2 (KCNJ11) genes predict the conversion from impaired glucose tolerance to type 2 diabetes. The Finnish Diabetes Prevention Study. J Clin Endocrinol Metab 89 (2004) 6286-6290
    • (2004) J Clin Endocrinol Metab , vol.89 , pp. 6286-6290
    • Laukkanen, O.1    Pihlajamaki, J.2    Lindstrom, J.3    Eriksson, J.4    Valle, T.T.5    Hamalainen, H.6
  • 19
    • 0034737811 scopus 로고    scopus 로고
    • Sur1 knockout mice. A model for KATP channel-independent regulation of insulin secretion
    • Seghers V., Nakazaki M., DeMayo F., Aguilar-Bryan L., and Bryan J. Sur1 knockout mice. A model for KATP channel-independent regulation of insulin secretion. J Biol Chem 275 (2000) 9270-9277
    • (2000) J Biol Chem , vol.275 , pp. 9270-9277
    • Seghers, V.1    Nakazaki, M.2    DeMayo, F.3    Aguilar-Bryan, L.4    Bryan, J.5
  • 20
    • 0037020148 scopus 로고    scopus 로고
    • Sulfonylurea receptor type 1 knock-out mice have intact feeding-stimulated insulin secretion despite marked impairment in their response to glucose
    • Shiota C., Larsson O., Shelton K.D., Shiota M., Efanov A.M., Hoy M., et al. Sulfonylurea receptor type 1 knock-out mice have intact feeding-stimulated insulin secretion despite marked impairment in their response to glucose. J Biol Chem 277 (2002) 37176-37183
    • (2002) J Biol Chem , vol.277 , pp. 37176-37183
    • Shiota, C.1    Larsson, O.2    Shelton, K.D.3    Shiota, M.4    Efanov, A.M.5    Hoy, M.6
  • 21
    • 11144355747 scopus 로고    scopus 로고
    • Restitution of defective glucose-stimulated insulin release of sulfonylurea type 1 receptor knockout mice by acetylcholine
    • Doliba N.M., Qin W., Vatamaniuk M.Z., Li C., Zelent D., Hajafi H., et al. Restitution of defective glucose-stimulated insulin release of sulfonylurea type 1 receptor knockout mice by acetylcholine. Am J Physiol Endocrinol Metab 286 (2004) E834-E843
    • (2004) Am J Physiol Endocrinol Metab , vol.286
    • Doliba, N.M.1    Qin, W.2    Vatamaniuk, M.Z.3    Li, C.4    Zelent, D.5    Hajafi, H.6
  • 22
  • 23
    • 0033625771 scopus 로고    scopus 로고
    • Sulfonylurea receptor 1 gene variants are associated with gestational diabetes and type 2 diabetes but not with altered secretion of insulin
    • Rissanen J., Markkanen A., Karkkainen P., Pihlajamaki J., Kekalainen P., Mykkanen L., et al. Sulfonylurea receptor 1 gene variants are associated with gestational diabetes and type 2 diabetes but not with altered secretion of insulin. Diabetes Care 23 (2000) 70-73
    • (2000) Diabetes Care , vol.23 , pp. 70-73
    • Rissanen, J.1    Markkanen, A.2    Karkkainen, P.3    Pihlajamaki, J.4    Kekalainen, P.5    Mykkanen, L.6
  • 24
    • 0034771093 scopus 로고    scopus 로고
    • Genetic variability of the SUR1 promoter in relation to beta-cell function and Type II diabetes mellitus
    • Hansen T., Ambye L., Grarup N., Hansen L., Echwald S.M., Ferrer J., et al. Genetic variability of the SUR1 promoter in relation to beta-cell function and Type II diabetes mellitus. Diabetologia 44 (2001) 1330-1334
    • (2001) Diabetologia , vol.44 , pp. 1330-1334
    • Hansen, T.1    Ambye, L.2    Grarup, N.3    Hansen, L.4    Echwald, S.M.5    Ferrer, J.6
  • 25
    • 0035090002 scopus 로고    scopus 로고
    • Role of common sequence variants in insulin secretion in familial type 2 diabetic kindreds: the sulfonylurea receptor, glucokinase, and hepatocyte nuclear factor 1 alpha genes
    • Elbein S.C., Sun J., Scroggin E., Teng K., and Hasstedt S.J. Role of common sequence variants in insulin secretion in familial type 2 diabetic kindreds: the sulfonylurea receptor, glucokinase, and hepatocyte nuclear factor 1 alpha genes. Diabetes Care 24 (2001) 472-478
    • (2001) Diabetes Care , vol.24 , pp. 472-478
    • Elbein, S.C.1    Sun, J.2    Scroggin, E.3    Teng, K.4    Hasstedt, S.J.5
  • 26
    • 0034005933 scopus 로고    scopus 로고
    • Reduced second phase insulin secretion in carriers of a sulphonylurea receptor gene variant associating with Type II diabetes mellitus
    • Hart L.M., Dekker J.M., van Haeften T.W., Ruige J.B., Stehouwer C.D., Erkelens D.W., et al. Reduced second phase insulin secretion in carriers of a sulphonylurea receptor gene variant associating with Type II diabetes mellitus. Diabetologia 43 (2000) 515-519
    • (2000) Diabetologia , vol.43 , pp. 515-519
    • Hart, L.M.1    Dekker, J.M.2    van Haeften, T.W.3    Ruige, J.B.4    Stehouwer, C.D.5    Erkelens, D.W.6
  • 27
    • 4243062602 scopus 로고    scopus 로고
    • Candidate gene association study in type 2 diabetes indicates a role for genes involved in β-cell function as well as insulin action
    • Barroso I., Luan J., Middelberg R.P.S., Harding A.H., Franks P.W., Jakes R.W., et al. Candidate gene association study in type 2 diabetes indicates a role for genes involved in β-cell function as well as insulin action. PLoS Biol 1 (2003) 41-55
    • (2003) PLoS Biol , vol.1 , pp. 41-55
    • Barroso, I.1    Luan, J.2    Middelberg, R.P.S.3    Harding, A.H.4    Franks, P.W.5    Jakes, R.W.6
  • 28
    • 0033812146 scopus 로고    scopus 로고
    • Association of a variant in exon 31 of the sulfonylurea receptor 1 (SUR1) gene with type 2 diabetes mellitus in French Caucasians
    • Reis A.F., Ye W.Z., Dubois-Laforgue D., Bellanne-Chantelot C., Timsit J., and 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 107 (2000) 138-144
    • (2000) Hum Genet , vol.107 , pp. 138-144
    • Reis, A.F.1    Ye, W.Z.2    Dubois-Laforgue, D.3    Bellanne-Chantelot, C.4    Timsit, J.5    Velho, G.6
  • 29
    • 0031702660 scopus 로고    scopus 로고
    • Variant in sulfonylurea receptor-1 gene is associated with high insulin concentrations in non-diabetic Mexican Americans: SUR1 gene variant and hyperinsulinemia
    • Goksel D.L., Fischbach K., Duggirala R., Mitchell B.D., Aguilar-Bryan L., Blangero J., et al. Variant in sulfonylurea receptor-1 gene is associated with high insulin concentrations in non-diabetic Mexican Americans: SUR1 gene variant and hyperinsulinemia. Hum Genet 103 (1998) 280-285
    • (1998) Hum Genet , vol.103 , pp. 280-285
    • Goksel, D.L.1    Fischbach, K.2    Duggirala, R.3    Mitchell, B.D.4    Aguilar-Bryan, L.5    Blangero, J.6
  • 30
    • 35548941306 scopus 로고    scopus 로고
    • Physical activity modifies the effect of SNPs in the SLC2A2 (GLUT2) and ABCC8 (SUR1) genes on the risk of developing type 2 diabetes
    • Kilpelainen T.O., Lakka T.A., Laaksonen DE D.E., Laukkanen O., Lindstrom J., Eriksson J.G., et al. Physical activity modifies the effect of SNPs in the SLC2A2 (GLUT2) and ABCC8 (SUR1) genes on the risk of developing type 2 diabetes. Physiol Genomics 31 (2007) 264-272
    • (2007) Physiol Genomics , vol.31 , pp. 264-272
    • Kilpelainen, T.O.1    Lakka, T.A.2    Laaksonen DE, D.E.3    Laukkanen, O.4    Lindstrom, J.5    Eriksson, J.G.6
  • 31
    • 0021776150 scopus 로고    scopus 로고
    • WHO. Diabetes mellitus. Report of a WHO Study Group. World Health Organ. Tech. Rep. Ser. 1985;727:1-113.
    • WHO. Diabetes mellitus. Report of a WHO Study Group. World Health Organ. Tech. Rep. Ser. 1985;727:1-113.
  • 32
    • 0021813187 scopus 로고
    • Homeostasis model assessment: insulin resistance and β-cell function from fasting plasma glucose and insulin concentrations in man
    • Matthews D.R., Hosker J.P., Rudenski A.S., Naylor B.A., Treacher D.F., and Turner R.C. Homeostasis model assessment: insulin resistance and β-cell function from fasting plasma glucose and insulin concentrations in man. Diabetologia 28 (1985) 412-419
    • (1985) Diabetologia , vol.28 , pp. 412-419
    • Matthews, D.R.1    Hosker, J.P.2    Rudenski, A.S.3    Naylor, B.A.4    Treacher, D.F.5    Turner, R.C.6
  • 33
    • 85007745189 scopus 로고    scopus 로고
    • The odds ratio
    • Bland J.M., and Altman D.G. The odds ratio. BMJ 320 (2000) 1468-11468
    • (2000) BMJ , vol.320 , pp. 1468-11468
    • Bland, J.M.1    Altman, D.G.2
  • 36
    • 0037280761 scopus 로고    scopus 로고
    • 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
    • Love-Gregory L., Wasson J., Lin J., Skolnick G., Suarez B., and Permutt M.A. 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 46 (2003) 136-137
    • (2003) Diabetologia , vol.46 , pp. 136-137
    • Love-Gregory, L.1    Wasson, J.2    Lin, J.3    Skolnick, G.4    Suarez, B.5    Permutt, M.A.6
  • 37
    • 47649112213 scopus 로고    scopus 로고
    • The prevalent Glu23Lys polymorphism in the potassium inward rectifier 6.2 (Kir6.2) gene secretion is associated with impaired glucagon suppression in response to hyperglycemia
    • Tschritter O., Stimvoll M., Machicao F., Holzwarth M., Weisser M., Maerker E., et al. The prevalent Glu23Lys polymorphism in the potassium inward rectifier 6.2 (Kir6.2) gene secretion is associated with impaired glucagon suppression in response to hyperglycemia. Diabetes 51 (2002) 3135-3138
    • (2002) Diabetes , vol.51 , pp. 3135-3138
    • Tschritter, O.1    Stimvoll, M.2    Machicao, F.3    Holzwarth, M.4    Weisser, M.5    Maerker, E.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.