Association of Met420del Variant of Metformin Transporter Gene SLC22A1 with Metformin Treatment Response in Ethiopian Patients with Type 2 Diabetes

References

• Emerging Risk Factors Collaboration. Diabetes mellitus, fasting blood glucose concentration, and risk of vascular disease: a collaborative meta-analysis of 102 prospective studies. Lancet Lond Engl. 2010;375(9733):2215–2222. doi:10.1016/S0140-6736(10)60484-9
   PubMed Web of Science ®Google Scholar
• Saeedi P, Petersohn I, Salpea P, et al. Global and regional diabetes prevalence estimates for 2019 and projections for 2030 and 2045: results from the International Diabetes Federation Diabetes Atlas, 9th edition. Diabetes Res Clin Pract. 2019;157:107843. doi:10.1016/j.diabres.2019.107843
   PubMed Web of Science ®Google Scholar
• Thomas MC. Glycemic exposure, glycemic control, and metabolic karma in diabetic complications. Adv Chronic Kidney Dis. 2014;21(3):311–317. doi:10.1053/j.ackd.2014.03.004
   PubMed Web of Science ®Google Scholar
• Stark Casagrande S, Fradkin JE, Saydah SH, Rust KF, Cowie CC. The prevalence of meeting A1C, blood pressure, and LDL goals among people with diabetes, 1988–2010. Diabetes Care. 2013;36(8):2271–2279. doi:10.2337/dc12-2258
   PubMed Web of Science ®Google Scholar
• Abera RG, Demesse ES, Boko WD. Evaluation of glycemic control and related factors among outpatients with type 2 diabetes at Tikur Anbessa Specialized Hospital, Addis Ababa, Ethiopia: a cross-sectional study. BMC Endocr Disord. 2022;22(1):54. doi:10.1186/s12902-022-00974-z
   PubMed Web of Science ®Google Scholar
• Abdissa D, Hirpa D. Poor glycemic control and its associated factors among diabetes patients attending public hospitals in West Shewa Zone, Oromia, Ethiopia: an Institutional based cross-sectional study. Metab Open. 2022;13:100154. doi:10.1016/j.metop.2021.100154
   PubMedGoogle Scholar
• Scarpello JHB, Howlett HCS. Metformin therapy and clinical uses. Diab Vasc Dis Res. 2008;5(3):157–167. doi:10.3132/dvdr.2008.027
   PubMed Web of Science ®Google Scholar
• Inzucchi SE, Bergenstal RM, Buse JB, et al. Management of hyperglycemia in type 2 diabetes: a patient-centered approach: position statement of the American Diabetes Association (ADA) and the European Association for the Study of Diabetes (EASD). Diabetes Care. 2012;35(6):1364–1379. doi:10.2337/dc12-0413
   PubMed Web of Science ®Google Scholar
• Jia W, Weng J, Zhu D, et al. Standards of medical care for type 2 diabetes in China 2019. Diabetes Metab Res Rev. 2019;35(6):e3158. doi:10.1002/dmrr.3158
   PubMed Web of Science ®Google Scholar
• Cook MN, Girman CJ, Stein PP, Alexander CM. Initial monotherapy with either metformin or sulphonylureas often fails to achieve or maintain current glycaemic goals in patients with Type 2 diabetes in UK primary care. Diabet Med J Br Diabet Assoc. 2007;24(4):350–358. doi:10.1111/j.1464-5491.2007.02078.x
   PubMed Web of Science ®Google Scholar
• Florez JC. Does metformin work for everyone? A genome-wide association study for metformin response. Curr Diab Rep. 2011;11(6):467–469. doi:10.1007/s11892-011-0220-0
   PubMedGoogle Scholar
• van Leeuwen N, Swen JJ, Guchelaar HJ, ’t Hart LM. The role of pharmacogenetics in drug disposition and response of oral glucose-lowering drugs. Clin Pharmacokinet. 2013;52(10):833–854. doi:10.1007/s40262-013-0076-3
   PubMed Web of Science ®Google Scholar
• Donnelly LA, Doney ASF, Hattersley AT, Morris AD, Pearson ER. The effect of obesity on glycaemic response to metformin or sulphonylureas in Type 2 diabetes. Diabet Med J Br Diabet Assoc. 2006;23(2):128–133. doi:10.1111/j.1464-5491.2005.01755.x
   PubMed Web of Science ®Google Scholar
• Song R. Mechanism of metformin: a tale of two sites. Diabetes Care. 2016;39(2):187–189. doi:10.2337/dci15-0013
   PubMed Web of Science ®Google Scholar
• Rena G, Hardie DG, Pearson ER. The mechanisms of action of metformin. Diabetologia. 2017;60(9):1577–1585. doi:10.1007/s00125-017-4342-z
   PubMed Web of Science ®Google Scholar
• Brunetti A, Chiefari E, Foti DP. Pharmacogenetics in type 2 diabetes: still a conundrum in clinical practice. Expert Rev Endocrinol Metab. 2017;12(3):155–158. doi:10.1080/17446651.2017.1316192
   PubMed Web of Science ®Google Scholar
• Dujic T, Zhou K, Yee SW, et al. Variants in pharmacokinetic transporters and glycemic response to metformin: a metgen meta-analysis. Clin Pharmacol Ther. 2017;101(6):763–772. doi:10.1002/cpt.567
   PubMed Web of Science ®Google Scholar
• Gong L, Goswami S, Giacomini KM, Altman RB, Klein TE. Metformin pathways: pharmacokinetics and pharmacodynamics. Pharmacogenet Genomics. 2012;22(11):820–827. doi:10.1097/FPC.0b013e3283559b22
   PubMed Web of Science ®Google Scholar
• Jensen JB, Sundelin EI, Jakobsen S, et al. [11C]-labeled metformin distribution in the liver and small intestine using dynamic positron emission tomography in mice demonstrates tissue-specific transporter dependency. Diabetes. 2016;65(6):1724–1730. doi:10.2337/db16-0032
   PubMed Web of Science ®Google Scholar
• Sundelin E, Gormsen LC, Jensen JB, et al. Genetic polymorphisms in organic cation transporter 1 attenuates hepatic metformin exposure in humans. Clin Pharmacol Ther. 2017;102(5). doi:10.1002/cpt.701
   PubMed Web of Science ®Google Scholar
• Hiroshi T, Eriko S, Kenji O, Shun H, Ichiro I. Polymorphism in human organic cation transporters and metformin action. Pharmacogenomics. 2008;9(4). doi:10.2217/14622416.9.4.415
   Web of Science ®Google Scholar
• Min-Koo C, Im-Sook S. Organic cation transporters and their pharmacokinetic and pharmacodynamic consequences. Drug Metab Pharmacokinet. 2008;23(4). doi:10.2133/dmpk.23.243
   Web of Science ®Google Scholar
• Goswami S, Gong L, Giacomini K, Altman RB, Klein TE. PharmGKB summary: very important pharmacogene information for SLC22A1. Pharmacogenet Genomics. 2014;24(6):324–328. doi:10.1097/FPC.0000000000000048
   PubMed Web of Science ®Google Scholar
• Zhou Y, Lauschke VM. Population pharmacogenomics: an update on ethnogeographic differences and opportunities for precision public health. Hum Genet. 2022;141(6):1113–1136. doi:10.1007/s00439-021-02385-x
   PubMed Web of Science ®Google Scholar
• Gebreyes YF, Goshu DY, Geletew TK, et al. Prevalence of high blood pressure, hyperglycemia, dyslipidemia, metabolic syndrome and their determinants in Ethiopia: evidences from the National NCDs STEPS survey, 2015. PLoS One. 2018;13(5):e0194819. doi:10.1371/journal.pone.0194819
   PubMed Web of Science ®Google Scholar
• Bennett PH. Impact of the new WHO classification and diagnostic criteria. Diabetes Obes Metab. 1999;1(Suppl 2):S1–6. doi:10.1046/j.1463-1326.1999.0010s2001.x
   PubMedGoogle Scholar
• Wang H, Chow SC. Sample size calculation for comparing proportions. In: Wiley Encyclopedia of Clinical Trials. John Wiley & Sons, Ltd; 2007.
   Google Scholar
• Shikata E, Yamamoto R, Takane H, et al. Human organic cation transporter (OCT1 and OCT2) gene polymorphisms and therapeutic effects of metformin. J Hum Genet. 2007;52(2):117–122. doi:10.1007/s10038-006-0087-0
   PubMed Web of Science ®Google Scholar
• Park JE, Jeong GH, Lee IK, et al. A pharmacometabolomic approach to predict response to metformin in early-phase type 2 diabetes mellitus patients. Mol Basel Switz. 2018;23(7):1579. doi:10.3390/molecules23071579
   Google Scholar
• American Diabetes Association. 6. Glycemic targets: standards of medical care in diabetes-2018. Diabetes Care. 2018;41(Suppl 1):S55–S64. doi:10.2337/dc18-S006
   PubMed Web of Science ®Google Scholar
• Hales CM, Fryar CD, Carroll MD, Freedman DS, Ogden CL. Trends in obesity and severe obesity prevalence in us youth and adults by sex and age, 2007–2008 to 2015–2016. JAMA. 2018;319(16):1723–1725. doi:10.1001/jama.2018.3060
   PubMed Web of Science ®Google Scholar
• Colberg SR, Sigal RJ, Fernhall B, et al. Exercise and type 2 diabetes. Diabetes Care. 2010;33(12):e147–e167. doi:10.2337/dc10-9990
   PubMed Web of Science ®Google Scholar
• Seid MA, Akalu Y, Gela YY, et al. Microvascular complications and its predictors among type 2 diabetes mellitus patients at Dessie town hospitals, Ethiopia. Diabetol Metab Syndr. 2021;13:86. doi:10.1186/s13098-021-00704-w
   PubMed Web of Science ®Google Scholar
• American Diabetes Association. Standards of medical care in diabetes—2022 abridged for primary care providers. Clin Diabetes. 2022;40(1):10–38. doi:10.2337/cd22-as01
   PubMedGoogle Scholar
• Lim MT, Ab Rahman N, Teh XR, et al. Optimal cut-off points for adherence measure among patients with type 2 diabetes in primary care clinics: a retrospective analysis. Ther Adv Chronic Dis. 2021;12:2040622321990264. doi:10.1177/2040622321990264
   Web of Science ®Google Scholar
• SNP genotyping analysis using TaqMan assays - ET. Available from: https://www.thermofisher.com/ng/en/home/life-science/pcr/real-time-pcr/real-time-pcr-assays/snp-genotyping-taqman-assays.html. Accessed July 29, 2023.
   Google Scholar
• Bińkowski J, Miks S. Gene-Calc [computer software]; 2018. Available from: https://gene-calc.pl/contact. Accessed April 28, 2023.
   Google Scholar
• Hermann LS, Scherstén B, Bitzén PO, Kjellström T, Lindgärde F, Melander A. Therapeutic comparison of metformin and sulfonylurea, alone and in various combinations. A double-blind controlled study. Diabetes Care. 1994;17(10). doi:10.2337/diacare.17.10.1100
   PubMed Web of Science ®Google Scholar
• Se K, Sm H, Ma H, et al. Glycemic durability of rosiglitazone, metformin, or glyburide monotherapy. N Engl J Med. 2006;355(23). doi:10.1056/NEJMoa066224
   Web of Science ®Google Scholar
• Waari G, Mutai J, Gikunju J. Medication adherence and factors associated with poor adherence among type 2 diabetes mellitus patients on follow-up at Kenyatta National Hospital, Kenya. Pan Afr Med J. 2018;29:82. doi:10.11604/pamj.2018.29.82.12639
   PubMed Web of Science ®Google Scholar
• Odume BB, Ofoegbu OS, Aniwada EC, Okechukwu EF. The influence of family characteristics on glycaemic control among adult patients with type 2 diabetes mellitus attending the general outpatient clinic, National Hospital, Abuja, Nigeria. South Afr Fam Pract. 2015;57(6):347–352. doi:10.1080/20786190.2015.1090688
   Web of Science ®Google Scholar
• Du Plessis M, Pearce B, Jacobs C, Hoosain N, Benjeddou M. Genetic polymorphisms of the organic cation transporter 1 gene (SLC22A1) within the Cape Admixed population of South Africa. Mol Biol Rep. 2015;42(3):665–672. doi:10.1007/s11033-014-3813-2
   PubMed Web of Science ®Google Scholar
• Campbell MC, Tishkoff SA. African genetic diversity: implications for human demographic history, modern human origins, and complex disease mapping. Annu Rev Genomics Hum Genet. 2008;9(1):403–433. doi:10.1146/annurev.genom.9.081307.164258
   PubMedGoogle Scholar
• Ramos E, Doumatey A, Elkahloun AG, et al. Pharmacogenomics, ancestry and clinical decision making for global populations. Pharmacogenomics J. 2014;14(3):217–222. doi:10.1038/tpj.2013.24
   PubMed Web of Science ®Google Scholar
• Ceriello A. The glucose triad and its role in comprehensive glycaemic control: current status, future management. Int J Clin Pract. 2010;64(12):1705–1711. doi:10.1111/j.1742-1241.2010.02517.x
   PubMed Web of Science ®Google Scholar
• Ketema EB, Kibret KT. Correlation of fasting and postprandial plasma glucose with HbA1c in assessing glycemic control; systematic review and meta-analysis. Arch Public Health Arch Belg Sante Publique. 2015;73:43. doi:10.1186/s13690-015-0088-6
   PubMed Web of Science ®Google Scholar
• Ong CR, Molyneaux LM, Constantino MI, Twigg SM, Yue DK. Long-term efficacy of metformin therapy in nonobese individuals with type 2 diabetes. Diabetes Care. 2006;29(11):2361–2364. doi:10.2337/dc06-0827
   PubMed Web of Science ®Google Scholar
• Lund SS, Tarnow L, Stehouwer CDA, et al. Targeting hyperglycaemia with either metformin or repaglinide in non-obese patients with type 2 diabetes: results from a randomized crossover trial. Diabetes Obes Metab. 2007;9(3):394–407. doi:10.1111/j.1463-1326.2007.00713.x
   PubMed Web of Science ®Google Scholar
• Garber A, Marre M, Blonde L, et al. Influence of initial hyperglycaemia, weight and age on the blood glucose lowering efficacy and incidence of hypoglycaemic symptoms with a single-tablet metformin-glibenclamide therapy (Glucovance) in type 2 diabetes. Diabetes Obes Metab. 2003;5(3):171–179. doi:10.1046/j.1463-1326.2003.00259.x
   PubMed Web of Science ®Google Scholar
• Ito H, Ishida H, Takeuchi Y, et al. Long-term effect of metformin on blood glucose control in non-obese patients with type 2 diabetes mellitus. Nutr Metab. 2010;7(1):83. doi:10.1186/1743-7075-7-83
   Google Scholar
• Ji L, Li H, Guo X, Li Y, Hu R, Zhu Z. Impact of baseline BMI on glycemic control and weight change with metformin monotherapy in Chinese type 2 diabetes patients: phase IV open-label trial. PLoS One. 2013;8(2):e57222. doi:10.1371/journal.pone.0057222
   PubMed Web of Science ®Google Scholar
• Christensen MMH, Brasch-Andersen C, Green H, et al. The pharmacogenetics of metformin and its impact on plasma metformin steady-state levels and glycosylated hemoglobin A1c. Pharmacogenet Genomics. 2011;21(12):837–850. doi:10.1097/FPC.0b013e32834c0010
   PubMed Web of Science ®Google Scholar
• Zhou Y, Ye W, Wang Y, et al. Genetic variants of OCT1 influence glycemic response to metformin in Han Chinese patients with type-2 diabetes mellitus in Shanghai. Int J Clin Exp Pathol. 2015;8(8):9533–9542.
   PubMed Web of Science ®Google Scholar
• Tarasova L, Kalnina I, Geldnere K, et al. Association of genetic variation in the organic cation transporters OCT1, OCT2 and multidrug and toxin extrusion 1 transporter protein genes with the gastrointestinal side effects and lower BMI in metformin-treated type 2 diabetes patients. Pharmacogenet Genomics. 2012;22(9):659–666. doi:10.1097/FPC.0b013e3283561666
   PubMed Web of Science ®Google Scholar
• Christensen MMH, Højlund K, Hother-Nielsen O, et al. Steady-state pharmacokinetics of metformin is independent of the OCT1 genotype in healthy volunteers. Eur J Clin Pharmacol. 2015;71(6):691–697. doi:10.1007/s00228-015-1853-8
   PubMed Web of Science ®Google Scholar
• Shu Y, Sheardown SA, Brown C, et al. Effect of genetic variation in the organic cation transporter 1 (OCT1) on metformin action. J Clin Invest. 2007;117(5):1422–1431. doi:10.1172/JCI30558
   PubMed Web of Science ®Google Scholar
• Mahrooz A, Parsanasab H, Hashemi-Soteh MB, et al. The role of clinical response to metformin in patients newly diagnosed with type 2 diabetes: a monotherapy study. Clin Exp Med. 2015;15(2):159–165. doi:10.1007/s10238-014-0283-8
   PubMed Web of Science ®Google Scholar
• Becker ML, Visser LE, van Schaik RHN, Hofman A, Uitterlinden AG, Stricker BHC. Genetic variation in the organic cation transporter 1 is associated with metformin response in patients with diabetes mellitus. Pharmacogenomics J. 2009;9(4):242–247. doi:10.1038/tpj.2009.15
   PubMed Web of Science ®Google Scholar
• Zhou K, Donnelly LA, Kimber CH, et al. Reduced-function SLC22A1 polymorphisms encoding organic cation transporter 1 and glycemic response to metformin: a GoDARTS study. Diabetes. 2009;58(6):1434–1439. doi:10.2337/db08-0896
   PubMed Web of Science ®Google Scholar
• Florez JC. The pharmacogenetics of metformin. Diabetologia. 2017;60(9):1648–1655. doi:10.1007/s00125-017-4335-y
   PubMed Web of Science ®Google Scholar
• Sakata T, Anzai N, Shin HJ, et al. Novel single nucleotide polymorphisms of organic cation transporter 1 (SLC22A1) affecting transport functions. Biochem Biophys Res Commun. 2004;313(3):789–793. doi:10.1016/j.bbrc.2003.11.175
   PubMed Web of Science ®Google Scholar
• Foretz M, Viollet B. Regulation of hepatic metabolism by AMPK. J Hepatol. 2011;54(4):827–829. doi:10.1016/j.jhep.2010.09.014
   PubMed Web of Science ®Google Scholar
• Krishan S, Richardson DR, Sahni S. Adenosine monophosphate-activated kinase and its key role in catabolism: structure, regulation, biological activity, and pharmacological activation. Mol Pharmacol. 2015;87(3):363–377. doi:10.1124/mol.114.095810
   PubMed Web of Science ®Google Scholar
• Zhou T, Xu X, Du M, Zhao T, Wang J. A preclinical overview of metformin for the treatment of type 2 diabetes. Biomed Pharmacother. 2018;106:1227–1235. doi:10.1016/j.biopha.2018.07.085
   PubMed Web of Science ®Google Scholar
• Schwartz S, Fonseca V, Berner B, Cramer M, Chiang YK, Lewin A. Efficacy, tolerability, and safety of a novel once-daily extended-release metformin in patients with type 2 diabetes. Diabetes Care. 2006;29(4):759–764. doi:10.2337/diacare.29.04.06.dc05-1967
   PubMed Web of Science ®Google Scholar
• DeFronzo RA, Buse JB, Kim T, et al. Once-daily delayed-release metformin lowers plasma glucose and enhances fasting and postprandial GLP-1 and PYY: results from two randomised trials. Diabetologia. 2016;59(8). doi:10.1007/s00125-016-3992-6
   PubMed Web of Science ®Google Scholar
• Napolitano A, Miller S, Nicholls AW, et al. Novel gut-based pharmacology of metformin in patients with type 2 diabetes mellitus. PLoS One. 2014;9(7):e100778. doi:10.1371/journal.pone.0100778
   PubMed Web of Science ®Google Scholar
• McCreight LJ, Bailey CJ, Pearson ER. Metformin and the gastrointestinal tract. Diabetologia. 2016;59(3):426–435. doi:10.1007/s00125-015-3844-9
   PubMed Web of Science ®Google Scholar
• Song IS, Shin HJ, Shim EJ, et al. Genetic variants of the organic cation transporter 2 influence the disposition of metformin. Clin Pharmacol Ther. 2008;84(5):559–562. doi:10.1038/clpt.2008.61
   PubMed Web of Science ®Google Scholar