Genotypic and Allelic Distribution of Polymorphic Variants of Gene SLC47A1 Leu125Phe (rs77474263) and Gly64Asp (rs77630697) and Their Association to the Clinical Response to Metformin in Adult Pakistani T2DM Patients
References:
[1] Inzucchi SE, Bergenstal RM, Buse JB, et al. American Diabetes Association (ADA) European Association for the Study of Diabetes (EASD) 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; 35:1364–1379.
[2] Nathan DM, Buse JB, Davidson MB, et al. American Diabetes Association. European Association for Study of Diabetes Medical management of hyperglycemia in type 2 diabetes: a consensus algorithm for the initiation and adjustment of therapy: a consensus statement of the American Diabetes Association and the European Association for the Study of Diabetes. Diabetes Care. 2009; 32:193–203.
[3] Graham GG, Punt J, Arora M, et al. Clinical pharmacokinetics of metformin. Clinical Pharmacokinetics. 2011; 50: 81–98.
[4] 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. Diabetic Medicine. 2007; 24: 350–358.
[5] Kahn SE, Haffner SM, Heise MA, et al. Glycemic durability of rosiglitazone, metformin, or glyburide monotherapy. New England Journal of Medicine. 2006; 355: 2427-2443.
[6] Bailey CJ and Turner RC. Metformin. New England Journal of Medicine. 1996; 334: 574–579.
[7] Leabman MK, Huang CC, Kawamoto M, et al. Pharmacogenetics of Membrane Transporters Investigators. Polymorphisms in a human kidney xenobiotic transporter, OCT2, exhibit altered function. Pharmacogenetics. 2002; 12: 395–405.
[8] Hermann LS, Schersten B, Melander A. Antihyperglycaemic efficacy, response prediction and dose-response relations of treatment with metformin and sulphonylurea, alone and in primary combination. Diabet Med. 1994;11:953–60.
[9] Reitman ML, Schadt EE. Pharmacogenetics of metformin response: a step in the path toward personalized medicine. J Clin Invest. 2007;117:1226–9.
[10] Damme K, Nies AT, Schaeffeler E, Schwab M. Mammalian MATE (SLC47A) transport proteins: impact on efflux of endogenous substrates and xenobiotics. Drug Metabolism & Review. 2011; 43: 499-523.
[11] Giacomini KM, Sugiyama Y. Membrane transporters and drug response. In: Goodman LS, Brunton LL, Chabner B, Knollmann BC, eds. Goodman & Gilman’s Pharmacological Basis of Therapeutics. 12th ed. New York: McGraw-Hill Education; 2011.
[12] Omote H, Hiasa M, Matsumoto T, Otsuka M, Moriyama Y. The MATE proteins as fundamental transporters of metabolic and xenobiotic organic cations. Trends Pharmacol Sci. 2006;27:587–93. doi: 10.1016/j.tips.2006.09.001.
[13] Takane H, Shikata E, Otsubo K, Higuchi S, Ieiri I. Polymorphism in human organic cation transporters and metformin action. Pharmacogenomics. 2008; 9: 415–422.
[14] Bi W, Yan J, Stankiewicz P, et al. Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse. Genome Research. 2002; 12: 713–728.
[15] Hundal RS, Krssak M, Dufour S, et al. Mechanism by which metformin reduces glucose production in type 2 diabetes. Diabetes. 2000; 49: 2063–2069.
[16] Aier MH Jr, Paulsen IT. Phylogeny of multidrug transporters. Seminars in Cell & Developmental Biology. 2001; 12: 205–213.
[17] Tsuda M, Terada T, Mizuno T, Katsura T, Shimakura J, Inui K. Targeted disruption of the multidrug and toxin extrusion 1 (mate1) gene in mice reduces renal secretion of metformin. Molecular Pharmacology. 2009; 75: 1280–1286.
[18] Chen Y, Li S, Brown C, et al. Effect of genetic variation in the organic cation transporter 2 on the renal elimination of metformin. Pharmacogenetics and Genomics. 2009; 19: 497-504.
[19] Zolk O. Disposition of metformin: variability due to polymorphisms of organic cation transporters. Annals of Medicine. 2012; 44:119-129. Pharmacology Therapy. 2014; 96: 370–9.
[20] Available at www.surveysystem.com. Accessed on 1/11/2018.
[21] Kirby A, Gebski V, Keech AC. Determining the sample size in a clinical trial. The Medical Journal of Australia. 2002; 177: 256-7.
[22] Khalid Z and Sezerman OU. Prediction of HIV Drug Resistance by combining Sequence and Structural Properties. IEEE/ACM transactions on computational biology and bioinformatics. 2018; 15: 966-973.
[23] Available at http://snp-nexus.org/. Accessed on 13/12/2018.
[24] Available at http://provean.jcvi.org/seq_submit.php. Accessed on 13/12/2018.
[25] Available at http://mutationassessor.org/r3/. Accessed on 13/12/2018.
[26] Available at http://flexpred.rit.albany.edu/. Accessed on 14/12/2018.
[27] Available at http://iupred.enzim.hu/. Accessed on 14/12/2018.
[28] Available at http://www.sbg.bio.ic.ac.uk/phyre2/html/page.cgi?id=index. Accessed on 14/12/2018.
[29] Krieger E, Joo K, Lee J, Lee J, Raman S, Thompson J, Tyka M, Baker D, Karplus K. Improving physical realism, stereochemistry, and side-chain accuracy in homology modeling: Four approaches that performed well in CASP8. Proteins. 2009; 77 Suppl 9:114-22.
[30] Available at http://pipe.sc.fsu.edu/wesa.html. Accessed on 15/12/2018.
[31] Available at http://mutpred.mutdb.org/. Accessed on 15/12/2018.
[32] Khalid Z and Ugur. Interpreting the prevalence of regulatory SNPs in cancers and protein-coding SNPs among non-cancer diseases using GWAS association studies. 2014: 95-98.
[33] 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):159-65.
[34] Shu Y, Sheardown SA, Brown C, et al. Effect of genetic variation in the organic cation transporter 1 (OCT1) on metformin action. Journal of Clinical Investigation. 2007; 117: 1422–1431.
[35] Sissung TM, Troutman SM, Campbell TJ, et al. Transporter pharmacogenetics: transporter polymorphisms affect normal physiology, diseases, and pharmacotherapy. Discovery medicine. 2012; 13: 19-34.
[36] Lozano E, Herraez E, Briz O, et al. Role of the plasma membrane transporter of organic cations OCT1 and its genetic variants in modern liver pharmacology. Bio Medical research international. 2013; 692-701.
[37] Topic E. The role of pharmacogenetics in the treatment of diabetes mellitus. Journal of Medical Biochemistry. 2014; 33: 58–70.
[38] Toyama K, Yonezawa A, Tsuda M, et al. Heterozygous variants of multidrug and toxin extrusions (MATE1 and MATE2-K) have little influence on the disposition of metformin in diabetic patients. Pharmacogenetics Genomics. 2010; 20: 135-138.
[39] Tzvetkov MV, Vormfelde SV, Balen D, et al. The effects of genetic polymorphisms in the organic cation transporters OCT1, OCT2, and OCT3 on the renal clearance of metformin. Clinical Pharmacology & Therapeutics. 2009; 86: 299-306
[40] Tkac I, Klimcakova L, Javorsky M, et al. Pharmacogenomic association between a variant in SLC47A1 gene and therapeutic response to metformin in type 2 diabetes. Diabetes Obesity and Metabolism. 2013; 15: 189–91.
[41] Retrieved from: https://www.ncbi.nlm.nih.gov/projects/SNP/. Accessed on 18/12/2018.
