2019, Number 1
<< Back Next >>
Rev Hosp Jua Mex 2019; 86 (1)
E23K (KCNJ11), and R1273R (ABCC8) polymorphism frequency in diabetes mellitus type 2 patients: glycemic control association in patients undergoing oral hypoglycemic treatment
Rodríguez-Rivera NS, Cuautle-Rodríguez P, Ortiz-López MG, Granados-Silvestre MÁ, Menjívar-Iraheta M, Molina-Guarneros J
Language: Spanish
References: 52
Page: 17-25
PDF size: 242.94 Kb.
ABSTRACT
Type 2 diabetes mellitus is a very heterogeneous disease with a very diverse response rate to different drugs; about 75% of patients under treatment are not controlled according to data from ENSANUT 2006, 2012 and MC 2016. Polymorphisms associated with the risk of this disease have been described in several populations that may also be related to variations in the pharmacological response of patients. Sulfonylureas are among the most commonly used drugs for diabetes control; polymorphisms in the genes that code for the target channel of these drugs:
KCNJ11 and
ABCC8 could be related to these variations. In Mexico there is little information about the frequency of these polymorphisms in the general population and diabetics. We genotyped 80 diabetic patients in treatment with oral hypoglycemic agents, for polymorphisms E23K (
KCNJ11) and R1273R (
ABCC8) by PCR-RFLP. The genotypic and allelic frequencies obtained were compared with those reported for the main world populations and with those of diabetics, finding that they are different from most of the reported populations. We found no association in our data between E23K and R1273R with glycemic control of patients.
REFERENCES
Villalpando S, de la Cruz V, Rojas R, Shamah-Levy T, Avila MA, Gaona B, et al. Prevalence and distribution of type 2 diabetes mellitus in Mexican adult population: a probabilistic survey. Salud Publica Mex 2010; 52 Suppl 1: S19-26.
Hernández AM. Proyecto de Modificación a la Norma Oficial Mexicana NOM-015-SSA2-1994, Para la prevención, tratamiento y control de la diabetes; para quedar como Norma Oficial Mexicana PROY-NOM-015-SSA2-2007, Para la prevención, tratamiento y control de la diabetes mellitus. S.d. Gobernación, Editor 2008.
Jiménez-Corona A, Aguilar-Salinas CA, Rojas-Martínez R, Hernández-Ávila M. Type 2 diabetes and frequency of prevention and control measures. Salud Publica Mex 2013; 55 Suppl 2: S137-43.
Hernández AM, Rivera DJ, Shamah-Levy T, Cuevas NL, Gómez AML, Gaona PE, et al. Encuesta Nacional de Salud y Nutrición de Medio Camino 2016: Informe final de resultados. S.d. Salud, Editor 2016. p. 151.
Barraza-Lloréns M, Guajardo-Barrón V, Picó J, García R, Hernández C, Mora F, et al. Carga económica de la diabetes mellitus en México, 2013. México: Funsalud; 2015. p. 131.
Standards of Medical Care in Diabetes-2016: summary of revisions. Diabetes Care 2016; 39 Suppl 1: S4-5.
Colagiuri S. Global guideline for type 2 diabetes. Bélgica: I.D. Federation; 2012. p. 123.
Genuth S. Should sulfonylureas remain an acceptable first-line add-on to metformin therapy in patients with type 2 diabetes? No, it’s time to move on! Diabetes Care 2015; 38(1): 170-5.
Zarate A, Barsuto L, Saucedo R, Hernández-Valencia M. Guía para seleccionar el tratamiento farmacológico en diabetes 2. Rev Med Inst Mex Seguro Soc 2010; 3(48): 293-6.
Altagracia-Martínez M, Kravzov J, Moreno MR, Rubio C, Skromne D, Rivas MS, et al. Diabetes mellitus tipo 2: ventas de los hipoglucemiantes orales y costos de los tratamientos farmacológicos en México. Revista Mexicana de Ciencias Farmacéuticas 2007; 38(001): 23-33.
Bryan J, Crane A, Vila-Carriles WH, Babenko AP, Aguilar-Bryan L. Insulin secretagogues, sulfonylurea receptors and K(ATP) channels. Curr Pharm Des 2005; 11(21): 2699-716.
Proks P, Ashcroft FM. Modeling K(ATP) channel gating and its regulation. Prog Biophys Mol Biol 2009; 99(1): 7-19.
Vedovato N, Ashcroft FM, Puljung MC. The nucleotide-binding sites of SUR1: a mechanistic model. Biophys J 2015; 109(12): 2452-60.
Flanagan SE, Clauin S, Bellanne-Chantelot C, de Lonlay P, Harries LW, Gloyn AL, et al. Update of mutations in the genes encoding the pancreatic beta-cell K(ATP) channel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism. Hum Mutat 2009; 30(2): 170-80.
Gloyn AL, Siddiqui J, Ellard S. 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 2006; 27(3): 220-31.
Florez JC, Jablonski KA, Kahn SE, Franks PW, Dabelea D, Hamman RF, 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 2007; 56(2): 531-6.
Zhou D, Zhang D, Liu Y, Zhao T, Chen Z, Liu Z, et al. The E23K variation in the KCNJ11 gene is associated with type 2 diabetes in Chinese and East Asian population. J Hum Genet 2009; 54(7): 433-5.
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 Suppl 3: S363-7.
Laukkanen O, Pihlajamaki J, Lindstrom J, Eriksson J, Valle TT, 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 2004; 89(12): 6286-90.
He YY, Zhang R, Shao XY, Hu C, Wang CR, Lu JX, et al. Association of KCNJ11 and ABCC8 genetic polymorphisms with response to repaglinide in Chinese diabetic patients. Acta Pharmacol Sin 2008; 29(8): 983-9.
Alsmadi O, Al-Rubeaan K, Wakil SM, Imtiaz F, Mohamed G, Al-Saud H, et al. Genetic study of Saudi diabetes (GSSD): significant association of the KCNJ11 E23K polymorphism with type 2 diabetes. Diabetes Metab Res Rev 2008; 24(2): 137-40.
Koo BK, Cho YM, Park BL, Cheong HS, Shin HD, Jang HC, et al. Polymorphisms of KCNJ11 (Kir6.2 gene) are associated with type 2 diabetes and hypertension in the Korean population. Diabet Med 2007; 24(2): 178-86.
Hamming KS, Soliman D, Matemisz LC, Niazi O, Lang Y, Gloyn AL, et al. Coexpression of the type 2 diabetes susceptibility gene variants KCNJ11 E23K and ABCC8 S1369A alter the ATP and sulfonylurea sensitivities of the ATP-sensitive K(+) channel. Diabetes 2009; 58(10): 2419-24.
Javorsky M, Klimcakova L, Schroner Z, Zidzik J, Babjakova E, Fabianova M, et al. KCNJ11 gene E23K variant and therapeutic response to sulfonylureas. Eur J Intern Med 2012; 23(3): 245-9.
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(3): 206-12.
Klen J, Dolzan V, Janez A. CYP2C9, KCNJ11 and ABCC8 polymorphisms and the response to sulphonylurea treatment in type 2 diabetes patients. Eur J Clin Pharmacol 2014; 70(4): 421-8.
Sanchez-Ibarra HE, Reyes-Cortes LM, Jiang XL, Luna-Aguirre CM, Aguirre-Trevino D, Morales-Alvarado IA, et al. Genotypic and phenotypic factors influencing drug response in Mexican patients with type 2 diabetes mellitus. Front Pharmacol 2018; 9: 320.
Tarasov AI, Nicolson TJ, Riveline JP, Taneja TK, Baldwin SA, Baldwin JM, et al. A rare mutation in ABCC8/SUR1 leading to altered ATP-sensitive K+ channel activity and beta-cell glucose sensing is associated with type 2 diabetes in adults. Diabetes 2008; 57(6): 1595-604.
Yu M, Xu XJ, Yin JY, Wu J, Chen X, Gong ZC, et al. KCNJ11 Lys23Glu and TCF7L2 rs290487(C/T) polymorphisms affect therapeutic efficacy of repaglinide in Chinese patients with type 2 diabetes. Clin Pharmacol Ther 2010; 87(3): 330-5.
Nikolac N, Simundic AM, Katalinic D, Topic E, Cipak A, Zjacic Rotkvic V. Metabolic control in type 2 diabetes is associated with sulfonylurea receptor-1 (SUR-1) but not with KCNJ11 polymorphisms. Arch Med Res 2009; 40(5): 387-92.
Parra EJ, Cameron E, Simmonds L, Valladares A, McKeigue P, Shriver M, et al. Association of TCF7L2 polymorphisms with type 2 diabetes in Mexico City. Clin Genet 2007; 71(4): 359-66.
Acuna-Alonzo V, Flores-Dorantes T, Kruit JK, Villarreal-Molina T, Arellano-Campos O, Hunemeier T, et al. A functional ABCA1 gene variant is associated with low HDL-cholesterol levels and shows evidence of positive selection in Native Americans. Hum Mol Genet 2010; 19(14): 2877-85.
Gamboa-Melendez MA, Huerta-Chagoya A, Moreno-Macias H, Vazquez-Cardenas P, Ordonez-Sanchez ML, Rodriguez-Guillen R, et al. Contribution of common genetic variation to the risk of type 2 diabetes in the Mexican Mestizo population. Diabetes 2012; 61(12): 3314-21.
Lara-Riegos JC, Ortiz-Lopez MG, Pena-Espinoza BI, Montufar-Robles I, Pena-Rico MA, Sanchez-Pozos K, et al. Diabetes susceptibility in Mayas: evidence for the involvement of polymorphisms in HHEX, HNF4alpha, KCNJ11, PPARgamma, CDKN2A/2B, SLC30A8, CDC123/CAMK1D, TCF7L2, ABCA1 and SLC16A11 genes. Gene 2015; 565(1): 68-75.
Rodriguez-Rivera NS, Cuautle-Rodriguez P, Castillo-Najera F, Molina-Guarneros JA. Identification of genetic variants in pharmacogenetic genes associated with type 2 diabetes in a Mexican-Mestizo population. Biomed Rep 2017; 7(1): 21-8.
Aguilar-Juárez M. Caracterización de los polimorfismos T259T del gen Sur-1 y E23K del gen Kir 6.2 en pacientes Mexicanos con DMT2 en tratamiento con sulfonilureas. Ciudad de México: Escuela Superior de Medicina, Instituto Politécnico Nacional: 2009. p. 117.
Li L, Shi Y, Wang X, Shi W, Jiang C. Single nucleotide polymorphisms in K(ATP) channels: muscular impact on type 2 diabetes. Diabetes 2005; 54(5): 1592-7.
van Dam RM, Hoebee B, Seidell JC, Schaap MM, de Bruin TW, Feskens EJ. Common variants in the ATP-sensitive K+ channel genes KCNJ11 (Kir6.2) and ABCC8 (SUR1) in relation to glucose intolerance: population-based studies and meta-analyses. Diabet Med 2005; 22(5): 590-8.
Gloyn AL, McCarthy MI. Genetics: how the UKPDS contributed to determining the genetic landscape of type 2 diabetes. Diabet Med 2008; 25 Suppl 2: 35-40.
Sesti G, Laratta E, Cardellini M, Andreozzi F, Del Guerra S, Irace C, et al. The E23K variant of KCNJ11 encoding the pancreatic beta-cell adenosine 5’-triphosphate-sensitive potassium channel subunit Kir6.2 is associated with an increased risk of secondary failure to sulfonylurea in patients with type 2 diabetes. J Clin Endocrinol Metab 2006; 91(6): 2334-9.
Shimajiri Y, Yamana A, Morita S, Furuta H, Furuta M, Sanke T. Kir6.2 E23K polymorphism is related to secondary failure of sulfonylureas in non-obese patients with type 2 diabetes. J Diabetes Investig 2013; 4(5): 445-9.
El-Sisi AE, Hegazy SK, Metwally SS, Wafa AM, Dawood NA. Effect of genetic polymorphisms on the development of secondary failure to sulfonylurea in Egyptian patients with type 2 diabetes. Ther Adv Endocrinol Metab 2011; 2(4): 155-64.
Gonen MS, Arikoglu H, Erkoc Kaya D, Ozdemir H, Ipekci SH, Arslan A, et al. Effects of single nucleotide polymorphisms in K(ATP) channel genes on type 2 diabetes in a Turkish population. Arch Med Res 2012; 43(4): 317-23.
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 2000; 23(1): 70-3.
Odgerel Z, Lee HS, Erdenebileg N, Gandbold S, Luvsanjamba M, Sambuughin N, et al. Genetic variants in potassium channels are associated with type 2 diabetes in a Mongolian population. J Diabetes 2012; 4(3): 238-42.
Auton A, Brooks LD, Durbin RM, Garrison EP, Kang HM, Korbel JO, et al. A global reference for human genetic variation. Nature 2015; 526(7571): 68-74.
Rastegari A, Rabbani M, Sadeghi HM, Imani EF, Hasanzadeh A, Moazen F. Association of KCNJ11 (E23K) gene polymorphism with susceptibility to type 2 diabetes in Iranian patients. Adv Biomed Res 2015; 4: 1.
Gloyn AL. The search for type 2 diabetes genes. Ageing Res Rev 2003; 2(2): 111-27.
Yokoi N, Kanamori M, Horikawa Y, Takeda J, Sanke T, Furuta H, et al. Association studies of variants in the genes involved in pancreatic beta-cell function in type 2 diabetes in Japanese subjects. Diabetes 2006; 55(8): 2379-86.
Chistiakov DA, Potapov VA, Khodirev DC, Shamkhalova MS, Shestakova MV, Nosikov VV. Genetic variations in the pancreatic ATP-sensitive potassium channel, beta-cell dysfunction, and susceptibility to type 2 diabetes. Acta Diabetol 2009; 46(1): 43-9.
Sokolova EA, Bondar IA, Shabelnikova OY, Pyankova OV, Filipenko ML. Replication of KCNJ11 (p.E23K) and ABCC8 (p.S1369A) Association in Russian Diabetes Mellitus 2 type cohort and meta-analysis. PLoS One 2015; 10(5): e0124662.
Calvillo R, Ramírez A. Boletín del Sistema de Vigilancia Hospitalaria de Diabetes Tipo 2. D.G.d.E. Secretaría de Salud; 2013. p. 38.