A Pharmacogenomic Dissection of a Rosuvastatin-Induced Rhabdomyolysis Case Evokes the Polygenic Nature of Adverse Drug Reactions

References

• Scalco RS, Gardiner AR, Pitceathly RD, et al. Rhabdomyolysis: a genetic perspective. Orphanet J Rare Dis. 2015;10:51. doi:10.1186/s13023-015-0264-325929793
   PubMed Web of Science ®Google Scholar
• Torres PA, Helmstetter JA, Kaye AM, Kaye AD. Rhabdomyolysis: pathogenesis, diagnosis, and treatment. Ochsner J. 2015;15(1):58–69.25829882
   PubMed Web of Science ®Google Scholar
• Huerta-Alardin AL, Varon J, Marik PE. Bench-to-bedside review: rhabdomyolysis – an overview for clinicians. Crit Care. 2005;9(2):158–169. doi:10.1186/cc297815774072
   PubMed Web of Science ®Google Scholar
• Thompson PD, Panza G, Zaleski A, Taylor B. Statin-associated side effects. J Am Coll Cardiol. 2016;67(20):2395–2410. doi:10.1016/j.jacc.2016.02.07127199064
   PubMed Web of Science ®Google Scholar
• Ganga HV, Slim HB, Thompson PD. A systematic review of statin-induced muscle problems in clinical trials. Am Heart J. 2014;168(1):6–15. doi:10.1016/j.ahj.2014.03.01924952854
   PubMed Web of Science ®Google Scholar
• Vrkic Kirhmajer M, Macolic Sarinic V, Simicevic L, et al. Rosuvastatin-induced rhabdomyolysis - possible role of ticagrelor and patients’ pharmacogenetic profile. Basic Clin Pharmacol Toxicol. 2018;123(4):509–518. doi:10.1111/bcpt.2018.123.issue-429734517
   PubMed Web of Science ®Google Scholar
• Schwarz UI, Gulilat M, Kim RB. The role of next-generation sequencing in pharmacogenetics and pharmacogenomics. Cold Spring Harb Perspect Med. 2019;9:2. doi:10.1101/cshperspect.a033027
   Web of Science ®Google Scholar
• Vrablik M, Zlatohlavek L, Stulc T, et al. Statin-associated myopathy: from genetic predisposition to clinical management. Physiol Res. 2014;63(Suppl 3):S327–334.25428737
   PubMed Web of Science ®Google Scholar
• Ortega-Recalde O, Vergara JI, Fonseca DJ, et al. Whole-exome sequencing enables rapid determination of xeroderma pigmentosum molecular etiology. PLoS One. 2014;8(6):e64692. doi:10.1371/journal.pone.006469223755135
   PubMed Web of Science ®Google Scholar
• Patino LC, Battu R, Ortega-Recalde O, et al. Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis. PLoS One. 2014;9(10):e109576. doi:10.1371/journal.pone.010957625333361
   PubMed Web of Science ®Google Scholar
• Patino LC, Beau I, Carlosama C, et al. New mutations in non-syndromic primary ovarian insufficiency patients identified via whole-exome sequencing. Hum Reprod. 2017;32(7):1512–1520. doi:10.1093/humrep/dex08928505269
   PubMed Web of Science ®Google Scholar
• Quintero-Ronderos P, Mercier E, Fukuda M, et al. Novel genes and mutations in patients affected by recurrent pregnancy loss. PLoS One. 2017;12(10):e0186149.29016666
   PubMed Web of Science ®Google Scholar
• Fonseca DJ, Patino LC, Suarez YC, et al. Next generation sequencing in women affected by nonsyndromic premature ovarian failure displays new potential causative genes and mutations. Fertil Steril. 2015;104(1):154–162.e152. doi:10.1016/j.fertnstert.2015.04.01625989972
   PubMed Web of Science ®Google Scholar
• Naranjo CA, Busto U, Sellers EM, et al. A method for estimating the probability of adverse drug reactions. Clin Pharmacol Ther. 1981;30(2):239–245. doi:10.1038/clpt.1981.1547249508
   PubMed Web of Science ®Google Scholar
• Horn JR, Hansten PD, Chan LN. Proposal for a new tool to evaluate drug interaction cases. Ann Pharmacother. 2007;41(4):674–680. doi:10.1345/aph.1H42317389673
   PubMed Web of Science ®Google Scholar
• Agbabiaka TB, Savovic J, Ernst E. Methods for causality assessment of adverse drug reactions: a systematic review. Drug Safety. 2008;31(1):21–37. doi:10.2165/00002018-200831010-0000318095744
   PubMed Web of Science ®Google Scholar
• Fux R, Morike K, Gundel UF, Hartmann R, Gleiter CH. Ezetimibe and statin-associated myopathy. Ann Intern Med. 2004;140(8):671–672. doi:10.7326/0003-4819-140-8-200404200-0003415096354
   PubMed Web of Science ®Google Scholar
• Floyd JS, Bloch KM, Brody JA, et al. Pharmacogenomics of statin-related myopathy: meta-analysis of rare variants from whole-exome sequencing. PLoS One. 2019;14(6):e0218115.31242253
   PubMed Web of Science ®Google Scholar
• van Vuren AJ, de Jong B, Bootsma HP, Van der Veen MJ, Feith GW. Ticagrelor-induced renal failure leading to statin-induced rhabdomyolysis. Neth J Med. 2015;73(3):136–138.25852115
   PubMed Web of Science ®Google Scholar
• Cattaneo M, Schulz R, Nylander S. Adenosine-mediated effects of ticagrelor: evidence and potential clinical relevance. J Am Coll Cardiol. 2014;63(23):2503–2509. doi:10.1016/j.jacc.2014.03.03124768873
   PubMed Web of Science ®Google Scholar
• Kirchheiner J, Brockmoller J. Clinical consequences of cytochrome P450 2C9 polymorphisms. Clin Pharmacol Ther. 2005;77(1):1–16. doi:10.1016/j.clpt.2004.08.00915637526
   PubMed Web of Science ®Google Scholar
• Dean L. Carvedilol therapy and CYP2D6 genotype In: Pratt V, McLeod H, Rubinstein W, Dean L, Kattman B, Malheiro A, editors. Medical Genetics Summaries. Bethesda (MD): National Center for Biotechnology Information (US); 2012:1–6.
   Google Scholar
• Court MH, Duan SX, Guillemette C, et al. Stereoselective conjugation of oxazepam by human UDP-glucuronosyltransferases (UGTs): S-oxazepam is glucuronidated by UGT2B15, while R-oxazepam is glucuronidated by UGT2B7 and UGT1A9. Drug Metab Dispos. 2002;30(11):1257–1265. doi:10.1124/dmd.30.11.125712386133
   PubMed Web of Science ®Google Scholar
• van Heek M, Farley C, Compton DS, Hoos L, Davis HR. Ezetimibe selectively inhibits intestinal cholesterol absorption in rodents in the presence and absence of exocrine pancreatic function. Br J Pharmacol. 2001;134(2):409–417. doi:10.1038/sj.bjp.070426011564660
   PubMed Web of Science ®Google Scholar
• Simard C, Poirier P. Ezetimibe-associated myopathy in monotherapy and in combination with a 3-hydroxy-3-methylglutaryl coenzyme A reductase inhibitor. Can J Cardiol. 2006;22(2):141–144. doi:10.1016/S0828-282X(06)70253-716485049
   PubMed Web of Science ®Google Scholar
• Kim CH, An H, Kim SH, Shin D. Pharmacokinetic and pharmacodynamic interaction between ezetimibe and rosuvastatin in healthy male subjects. Drug Des Devel Ther. 2017;11:3461–3469. doi:10.2147/DDDT.S146863
   PubMed Web of Science ®Google Scholar
• Tirona RG, Leake BF, Merino G, Kim RB. Polymorphisms in OATP-C: identification of multiple allelic variants associated with altered transport activity among European- and African-Americans. J Biol Chem. 2001;276(38):35669–35675. doi:10.1074/jbc.M10379220011477075
   PubMed Web of Science ®Google Scholar
• Mwinyi J, Johne A, Bauer S, Roots I, Gerloff T. Evidence for inverse effects of OATP-C (SLC21A6) 5 and 1b haplotypes on pravastatin kinetics. Clin Pharmacol Ther. 2004;75(5):415–421. doi:10.1016/j.clpt.2003.12.01615116054
   PubMed Web of Science ®Google Scholar
• Link E, Parish S, Armitage J, et al. SLCO1B1 variants and statin-induced myopathy–a genomewide study. N Engl J Med. 2008;359(8):789–799.18650507
   PubMed Web of Science ®Google Scholar
• Carr DF, O’Meara H, Jorgensen AL, et al. SLCO1B1 genetic variant associated with statin-induced myopathy: a proof-of-concept study using the clinical practice research datalink. Clin Pharmacol Ther. 2013;94(6):695–701. doi:10.1038/clpt.2013.16123942138
   PubMed Web of Science ®Google Scholar
• Niemi M. Transporter pharmacogenetics and statin toxicity. Clin Pharmacol Ther. 2010;87(1):130–133. doi:10.1038/clpt.2009.19719890253
   PubMed Web of Science ®Google Scholar
• Choi JH, Lee MG, Cho JY, Lee JE, Kim KH, Park K. Influence of OATP1B1 genotype on the pharmacokinetics of rosuvastatin in Koreans. Clin Pharmacol Ther. 2008;83(2):251–257. doi:10.1038/sj.clpt.610026717568401
   PubMed Web of Science ®Google Scholar
• Ho RH, Tirona RG, Leake BF, et al. Drug and bile acid transporters in rosuvastatin hepatic uptake: function, expression, and pharmacogenetics. Gastroenterology. 2006;130(6):1793–1806. doi:10.1053/j.gastro.2006.02.03416697742
   PubMed Web of Science ®Google Scholar
• Laitinen A, Niemi M. Frequencies of single-nucleotide polymorphisms of SLCO1A2, SLCO1B3 and SLCO2B1 genes in a finnish population. Basic Clin Pharmacol Toxicol. 2011;108(1):9–13. doi:10.1111/pto.2010.108.issue-120560925
   PubMed Web of Science ®Google Scholar
• Mougey EB, Feng H, Castro M, Irvin CG, Lima JJ. Absorption of montelukast is transporter mediated: a common variant of OATP2B1 is associated with reduced plasma concentrations and poor response. Pharmacogenet Genomics. 2009;19(2):129–138. doi:10.1097/FPC.0b013e32831bd98c19151602
   PubMed Web of Science ®Google Scholar
• Imanaga J, Kotegawa T, Imai H, et al. The effects of the SLCO2B1 c.1457C > T polymorphism and apple juice on the pharmacokinetics of fexofenadine and midazolam in humans. Pharmacogenet Genomics. 2011;21(2):84–93. doi:10.1097/FPC.0b013e32834300cc21280267
   PubMed Web of Science ®Google Scholar
• Knauer MJ, Urquhart BL, Meyer zu Schwabedissen HE, et al. Human skeletal muscle drug transporters determine local exposure and toxicity of statins. Circ Res. 2010;106(2):297–306. doi:10.1161/CIRCRESAHA.109.20359619940267
   PubMed Web of Science ®Google Scholar
• Leslie EM, Deeley RG, Cole SP. Multidrug resistance proteins: role of P-glycoprotein, MRP1, MRP2, and BCRP (ABCG2) in tissue defense. Toxicol Appl Pharmacol. 2005;204(3):216–237. doi:10.1016/j.taap.2004.10.01215845415
   PubMed Web of Science ®Google Scholar
• Mesrian Tanha H, Rahgozar S, Mojtabavi Naeini M. ABCC4 functional SNP in the 3ʹ splice acceptor site of exon 8 (G912T) is associated with unfavorable clinical outcome in children with acute lymphoblastic leukemia. Cancer Chemother Pharmacol. 2017;80(1):109–117. doi:10.1007/s00280-017-3340-728550450
   PubMed Web of Science ®Google Scholar
• Rodrigues AC. Efflux and uptake transporters as determinants of statin response. Expert Opin Drug Metab Toxicol. 2010;6(5):621–632. doi:10.1517/1742525100371351920367534
   PubMed Web of Science ®Google Scholar
• Sakamoto K, Kimura J. Mechanism of statin-induced rhabdomyolysis. J Pharmacol Sci. 2013;123(4):289–294. doi:10.1254/jphs.13R06CP24257439
   PubMed Web of Science ®Google Scholar
• Szklarczyk D, Gable AL, Lyon D, et al. STRING v11: protein-protein association networks with increased coverage, supporting functional discovery in genome-wide experimental datasets. Nucleic Acids Res. 2019;47(D1):D607–d613. doi:10.1093/nar/gky113130476243
   PubMed Web of Science ®Google Scholar
• Bagnato P, Barone V, Giacomello E, Rossi D, Sorrentino V. Binding of an ankyrin-1 isoform to obscurin suggests a molecular link between the sarcoplasmic reticulum and myofibrils in striated muscles. J Cell Biol. 2003;160(2):245–253. doi:10.1083/jcb.20020810912527750
   PubMed Web of Science ®Google Scholar
• Randazzo D, Giacomello E, Lorenzini S, et al. Obscurin is required for ankyrinB-dependent dystrophin localization and sarcolemma integrity. J Cell Biol. 2013;200(4):523–536. doi:10.1083/jcb.20120511823420875
   PubMed Web of Science ®Google Scholar
• Draeger A, Monastyrskaya K, Mohaupt M, et al. Statin therapy induces ultrastructural damage in skeletal muscle in patients without myalgia. J Pathol. 2006;210(1):94–102. doi:10.1002/(ISSN)1096-989616799920
   PubMed Web of Science ®Google Scholar
• Bomba L, Walter K, Soranzo N. The impact of rare and low-frequency genetic variants in common disease. Genome Biol. 2017;18(1):77. doi:10.1186/s13059-017-1212-428449691
   PubMed Web of Science ®Google Scholar
• Nicolae DL. Association tests for rare variants. Annu Rev Genomics Hum Genet. 2016;17:117–130. doi:10.1146/annurev-genom-083115-02260927147090
   PubMed Web of Science ®Google Scholar
• Neroldova M, Stranecky V, Hodanova K, et al. Rare variants in known and novel candidate genes predisposing to statin-associated myopathy. Pharmacogenomics. 2016;17(13):1405–1414. doi:10.2217/pgs-2016-007127296017
   PubMed Web of Science ®Google Scholar