Influence of common polymorphisms in the SLC5A2 gene on metabolic traits in subjects at increased risk of diabetes and on response to empagliflozin treatment in patients with diabetes

Pharmacogenetics and Genomics - Tập 27 Số 4 - Trang 135-142 - 2017
Heike Zimdahl1, Axel Haupt1, Michael Brendel1, Louis Bour1, Fausto Machicao1, Afshin Salsali1, Uli C. Broedl1, Hans‐Juergen Woerle1, Hans‐Ulrich Häring1, Harald Staiger1
1* Heike Zimdahl and Axel Haupt contributed equally to the writing of this article.; Accepted January 6, 2017; Received April 13, 2016; aBoehringer Ingelheim Pharma GmbH & Co. KG, Biberach; cInstitute for Diabetes Research and Metabolic Diseases, Helmholtz Centre Munich; dDepartment of Internal Medicine, Division of Endocrinology, Diabetology, Vascular Disease, Nephrology, and Clinical Chemistry; e-mail: [email protected]; eInterfaculty Centre for Pharmacogenomics and Pharma Research, University of Tuebingen; fInstitute of Pharmaceutical Sciences, Department of Pharmacy and Biochemistry, Eberhard Karls University Tuebingen, Tuebingen; fax: +49 735 1 83 94835; gInstitute of Experimental Genetics, Helmholtz Centre Munich, German Research Center for Environmental Health, Neuherberg; iEli Lilly and Company, Indianapolis, USA

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Tài liệu tham khảo

Wright, 2011, Biology of human sodium glucose transporters, Physiol Rev, 91, 733, 10.1152/physrev.00055.2009

Ferrannini, 2012, SGLT2 inhibition in diabetes mellitus: rationale and clinical prospects, Nat Rev Endocrinol, 8, 495, 10.1038/nrendo.2011.243

Santer, 2010, Familial renal glucosuria and SGLT2: from a mendelian trait to a therapeutic target, Clin J Am Soc Nephrol, 5, 133, 10.2215/CJN.04010609

Calado, 2006, Familial renal glucosuria: SLC5A2 mutation analysis and evidence of salt-wasting, Kidney Int, 69, 852, 10.1038/sj.ki.5000194

Calado, 2008, Twenty-one additional cases of familial renal glucosuria: absence of genetic heterogeneity, high prevalence of private mutations and further evidence of volume depletion, Nephrol Dial Transplant, 23, 3874, 10.1093/ndt/gfn386

Santer, 2003, Molecular analysis of the SGLT2 gene in patients with renal glucosuria, J Am Soc Nephrol, 14, 2873, 10.1097/01.ASN.0000092790.89332.D2

Calado, 2011, Effect of kidney disease on glucose handling (including genetic defects), Kidney Int Suppl, 120, S7, 10.1038/ki.2010.510

Enigk, 2011, Role of genetic variation in the human sodium-glucose cotransporter 2 gene (SGLT2) in glucose homeostasis, Pharmacogenomics, 12, 1119, 10.2217/pgs.11.69

Stefan, 2005, Polymorphisms in the gene encoding adiponectin receptor 1 are associated with insulin resistance and high liver fat, Diabetologia, 48, 2282, 10.1007/s00125-005-1948-3

Häring, 2014, Empagliflozin as add-on to metformin in patients with type 2 diabetes: a 24-week, randomized, double-blind, placebo-controlled trial, Diabetes Care, 37, 1650, 10.2337/dc13-2105

Häring, 2013, Empagliflozin as add-on to metformin plus sulfonylurea in patients with type 2 diabetes: a 24-week, randomized, double-blind, placebo-controlled trial, Diabetes Care, 36, 3396, 10.2337/dc12-2673

Roden, 2013, Empagliflozin monotherapy with sitagliptin as an active comparator in patients with type 2 diabetes: a randomised, double-blind, placebo-controlled, phase 3 trial, Lancet Diabetes Endocrinol, 1, 208, 10.1016/S2213-8587(13)70084-6

Kovacs, 2014, Empagliflozin improves glycaemic and weight control as add-on therapy to pioglitazone or pioglitazone plus metformin in patients with type 2 diabetes: a 24-week, randomized, placebo-controlled trial, Diabetes Obes Metab, 16, 147, 10.1111/dom.12188

Sanger, 1977, DNA sequencing with chain-terminating inhibitors, Proc Natl Acad Sci USA, 74, 5463, 10.1073/pnas.74.12.5463

Zimdahl, 2014, Influence of TCF7L2 gene variants on the therapeutic response to the dipeptidylpeptidase-4 inhibitor linagliptin, Diabetologia, 57, 1869, 10.1007/s00125-014-3276-y

Wagner, 2014, Age-dependent association of serum prolactin with glycaemia and insulin sensitivity in humans, Acta Diabetol, 51, 71, 10.1007/s00592-013-0493-7

Matsuda, 1999, Insulin sensitivity indices obtained from oral glucose tolerance testing: comparison with the euglycemic insulin clamp, Diabetes Care, 22, 1462, 10.2337/diacare.22.9.1462

Matthews, 1985, Homeostasis model assessment: insulin resistance and beta-cell function from fasting plasma glucose and insulin concentrations in man, Diabetologia, 28, 412, 10.1007/BF00280883

Staiger, 2013, Common genetic variation in the human FNDC5 locus, encoding the novel muscle-derived ‘browning’ factor irisin, determines insulin sensitivity, PLoS One, 8, e61903, 10.1371/journal.pone.0061903

Levey, 1999, A more accurate method to estimate glomerular filtration rate from serum creatinine: a new prediction equation. Modification of Diet in Renal Disease Study Group, Ann Intern Med, 130, 461, 10.7326/0003-4819-130-6-199903160-00002

Myburgh, 2012, Cardiovascular pharmacogenetics, Pharmacol Ther, 133, 280, 10.1016/j.pharmthera.2011.11.002

Becker, 2013, Pharmacogenetics of oral antidiabetic drugs, Int J Endocrinol, 2013, 686315, 10.1155/2013/686315

Tonjes, 2013, SGLT2: a potential target for the pharmacogenetics of type 2 diabetes?, Pharmacogenomics, 14, 825, 10.2217/pgs.13.61

Abdul-Ghani, 2013, Novel hypothesis to explain why SGLT2 inhibitors inhibit only 30–50% of filtered glucose load in humans, Diabetes, 62, 3324, 10.2337/db13-0604

Rieg, 2014, Increase in SGLT1-mediated transport explains renal glucose reabsorption during genetic and pharmacological SGLT2 inhibition in euglycemia, Am J Physiol Renal Physiol, 306, F188, 10.1152/ajprenal.00518.2013

Heise, 2013, Safety, tolerability, pharmacokinetics and pharmacodynamics following 4 weeks’ treatment with empagliflozin once daily in patients with type 2 diabetes, Diabetes Obes Metab, 15, 613, 10.1111/dom.12073