Pharmacogenomic Biomarkers in Coronary Artery Disease: A Narrative Review

References

• Barquera S , Pedroza-TobíasA , MedinaCet al. Global overview of the epidemiology of atherosclerotic cardiovascular disease. Arch. Med. Res.46(5), 328–338 (2015).
   PubMed Web of Science ®Google Scholar
• Kaptoge S , PennellsL , DeBacquer Det al. World Health Organization cardiovascular disease risk charts: revised models to estimate risk in 21 global regions. Lancet. Glob. Health7(10), e1332–e1345 (2019).
   PubMed Web of Science ®Google Scholar
• Goldstein LB , AdamsR , AlbertsMJet al. Primary prevention of ischemic stroke, a guideline from the American Heart Association/American Stroke Association Stroke Council: cosponsored by the Atherosclerotic Peripheral Vascular Disease Interdisciplinary Working Group, Cardiovascular. Nursing. Counc. Stroke37, 1583–1633 (2006).
   PubMed Web of Science ®Google Scholar
• Gupta R , JoshiP , MohanVet al. Epidemiology and causation of coronary heart disease and stroke in India. Heart1, 16–26 (2008).
   Google Scholar
• Figtree GA , VernonST. Coronary artery disease patients without standard modifiable risk factors (SMuRFs)–a forgotten group calling out for new discoveries. Cardiovasc. Res.117(6), 76–88 (2021).
   Web of Science ®Google Scholar
• Nikpay M , MohammadzadehS. Phenome-wide screening for traits causally associated with the risk of coronary artery disease. J. Hum. Genet.65(4), 371–380 (2020).
   PubMed Web of Science ®Google Scholar
• Zaiou M , ElAmri H. Cardiovascular pharmacogenetics: a promise for genomically-guided therapy and personalized medicine. Clin. Genet.91(3), 355–370 (2017).
   PubMed Web of Science ®Google Scholar
• Verschuren JJW , TrompetS , WesselsJAMet al. A systematic review on pharmacogenetics in cardiovascular disease: is it ready for clinical application? Eur. Heart J. 33(2), 165–175 (2012).
   PubMed Web of Science ®Google Scholar
• Katsonis P , KoireA , WilsonSJet al. Single nucleotide variations: biological impact and theoretical interpretation. Protein Sci.23(12), 1650–1666 (2014).
   PubMed Web of Science ®Google Scholar
• Sherry ST , WardM , SirotkinK. dbSNP – database for single-nucleotide polymorphisms and other classes of minor genetic variation. Genome Res.9(8), 677–679 (1999).
   PubMed Web of Science ®Google Scholar
• Lu S , WangY , WangYet al. The IL-6 rs1800795 and rs1800796 polymorphisms are associated with coronary artery disease risk. J. Cell. Mol. Med.24(11), 6191–6207 (2020).
   PubMed Web of Science ®Google Scholar
• Bertilsson L , DahlML , DalénPet al. Molecular genetics of CYP2D6: clinical relevance with focus on psychotropic drugs. Br. J. Clin. Pharmacol.53(2), 111–122 (2002).
   PubMed Web of Science ®Google Scholar
• Deneer VHM , Van SchaikRHN. Evidence based drug dosing and pharmacotherapeutic recommendations per genotype. Methods Mol. Biol.1015, 345–354 (2013).
   PubMedGoogle Scholar
• Sosa-Macías M , TeranE , WatersWet al. Pharmacogenetics and ethnicity: relevance for clinical implementation, clinical trials, pharmacovigilance and drug regulation in Latin America. Pharmacogenomics17(16), 1741–1747 (2016).
   PubMed Web of Science ®Google Scholar
• Saunders H , HarrisD , ChirilăRM. Pharmacogenomics: introduction and use in clinical practice. Rom. J. Intern. Med.58(2), 69–74 (2020).
   PubMed Web of Science ®Google Scholar
• Shi Y , ZhangH , HuangSet al. Epigenetic regulation in cardiovascular disease: mechanisms and advances in clinical trials. Signal Transduct. Target Ther.7(1), 200–227 (2022).
   PubMed Web of Science ®Google Scholar
• Kim JA , CeccarelliR , LuCY. Pharmacogenomic biomarkers in US FDA-approved drug labels (2000–2020). J. Pers. Med.11(3), 1–13 (2021).
   Web of Science ®Google Scholar
• Prasher B , VarmaB , KumarAet al. Ayurgenomics for stratified medicine: TRISUTRA consortium initiative across ethnically and geographically diverse Indian populations. J. Ethnopharmacol.197, 274–293 (2017).
   PubMed Web of Science ®Google Scholar
• Leusink M , Onland-MoretNC , de BakkerPIet al. Seventeen years of statin pharmacogenetics: a systematic review. Pharmacogenomics17(2), 163–180 (2015).
   PubMed Web of Science ®Google Scholar
• Alakbarzade V , HuangX , SterICet al. High on-clopidogrel platelet reactivity in ischaemic stroke or transient ischaemic attack: systematic review and meta-analysis. J. Stroke Cerebrovasc. Dis.29(7), 104877 (2020).
   PubMed Web of Science ®Google Scholar
• Dichgans M , BeaufortN , DebetteS , AndersonCD. Stroke genetics: turning discoveries into clinical applications. Stroke52(9), 2974–2982 (2021).
   PubMed Web of Science ®Google Scholar
• Topol EJ , SmithJ , PlowEF , WangQK. Genetic susceptibility to myocardial infarction and coronary artery disease. Hum. Mol. Genet.15(2), 117–123 (2006).
   Google Scholar
• Ward LD , KellisM. HaploReg, v4: systematic mining of putative causal variants, cell types, regulators and target genes for human complex traits and disease. Nucleic Acids Res.44, 877–881 (2016).
   PubMed Web of Science ®Google Scholar
• Abdulfattah SY , Al-AwadiSJ. ApoB gene polymorphism (rs676210) and its pharmacogenetics impact on atorvastatin response among Iraqi population with coronary artery disease. J. Genet. Eng. Biotechnol.19(1), 95 (2021).
   PubMed Web of Science ®Google Scholar
• Agema WR , WouterJukema J , de MaatMPet al. Pharmacogenetics of the CD14 endotoxin receptor polymorphism and progression of coronary atherosclerosis. Thromb. Haemost.91(5), 986–990 (2004).
   PubMed Web of Science ®Google Scholar
• Kononov S , MalG , AzarovaIet al. Pharmacogenetic loci for rosuvastatin are associated with intima-media thickness change and coronary artery disease risk. Pharmacogenomics23, 15–34 (2022).
   PubMed Web of Science ®Google Scholar
• Chen SN , BallantyneCM , GottoAMet al. A common PCSK9 haplotype, encompassing the E670G coding single-nucleotide polymorphism, is a novel genetic marker for plasma low-density lipoprotein cholesterol levels and severity of coronary atherosclerosis. J. Am. Coll. Cardiol.45(10), 1611–1619 (2005).
   PubMed Web of Science ®Google Scholar
• Donnelly LA , Van ZuydamNR , ZhouKet al. Robust association of the LPA locus with low-density lipoprotein cholesterol lowering response to statin treatment in a meta-analysis of 30,467 individuals from both randomized control trials and observational studies and association with coronary artery. Pharmacogenet. Genomics23(10), 518–525 (2013).
   PubMed Web of Science ®Google Scholar
• Maitland-van der Zee AH , LynchA , BoerwinkleEet al. Interactions between the single-nucleotide polymorphisms in the homocysteine pathway. Pharmacogenet. Genomics18(8), 651–656 (2008).
   PubMedGoogle Scholar
• Mangravite LM , MedinaMW , CuiJet al. Combined influence of LDLR and HMGCR sequence variation on lipid-lowering response to simvastatin. Arterioscler. Thromb. Vasc. Biol.30(7), 1485–1492 (2010).
   PubMed Web of Science ®Google Scholar
• Abd Elgwad ER , BehiryEG , SwailemFMet al. Association between Q192R polymorphism in the PON1 gene and statin responses in cardiac patients. Ann. Med. Surg.3, 1–5 (2018).
   Google Scholar
• Yang Q , ChenY , YongW. FOXP3 genetic variant and risk of acute coronary syndrome in Chinese Han population. Cell Biochem. Funct.1(7), 599–602 (2013).
   Google Scholar
• Poduri A , KhullarM , BahlA. Common variants of HMGCR, CETP, APOAI, ABCB1, CYP3A4, and CYP7A1 genes as predictors of lipid-lowering response to atorvastatin therapy. DNA Cell Biol.29(10), 629–637 (2010).
   PubMed Web of Science ®Google Scholar
• Alipour A , CabezasMC , ElteJWFet al. Mannose binding lectin 2 haplotypes do not affect the progression of coronary atherosclerosis in men with proven coronary artery disease treated with pravastatin. Atherosclerosis215(1), 125–129 (2011).
   PubMed Web of Science ®Google Scholar
• Pechlivanis S , JungD , MoebusSet al. Pharmacogenetic association of diabetes-associated genetic risk score with rapid progression of coronary artery calcification following treatment with HMG-CoA-reductase inhibitors–results of the Heinz Nixdorf Recall study. Naunyn. Schmiedebergs Arch. Pharmacol.394(8), 1713–1725 (2021).
   PubMed Web of Science ®Google Scholar
• Bharath G , VishnuprabuDP , PreethiLet al. SLCO1B1 and ABCB1 variants synergistically influence the atorvastatin treatment response in South Indian coronary artery disease patients. Pharmacogenomics23, 683–694 (2022).
   PubMed Web of Science ®Google Scholar
• Lewis SR , PritchardMW , Schofield-RobinsonOJet al. Continuation versus discontinuation of antiplatelet therapy for bleeding and ischaemic events in adults undergoing non-cardiac surgery. Cochrane Database Syst. Rev.7(7), CD012584 (2018).
   PubMedGoogle Scholar
• Goodman T , FerroA , SharmaP. Pharmacogenetics of aspirin resistance: a comprehensive systematic review. Br. J. Clin. Pharmacol.66, 222–232 (2008).
   PubMed Web of Science ®Google Scholar
• Damman P , WoudstraP , KuijtWJ. P2Y12 platelet inhibition in clinical practice. J. Thromb. Thrombolysis33(2), 143–153 (2012).
   PubMed Web of Science ®Google Scholar
• Raymond J , ImbertL , CousinT. Pharmacogenetics of direct oral anticoagulants: a systematic review. J. Pers. Med.11(1),37–47 (2011).
   Google Scholar
• Wiviott SD , AntmanEM , GibsonCMet al. TRITON-TIMI 38 investigators. Evaluation of prasugrel compared with clopidogrel in patients with acute coronary syndromes: design and rationale for the TRial to assess Improvement in Therapeutic Outcomes by optimizing platelet InhibitioN with prasugrel Thrombolysis In Myocardial Infarction 38 (TRITON-TIMI 38). Am. Heart J.152(4), 627–635 (2006).
   PubMed Web of Science ®Google Scholar
• Kurz DJ , RadovanovicD , SeifertBet al. Comparison of prasugrel and clopidogrel-treated patients with acute coronary syndrome undergoing percutaneous coronary intervention: a propensity score matched analysis of the Acute Myocardial Infarction in Switzerland (AMIS)-Plus Registry. Eur. Heart J. Acute Cardiovasc. Care5(1), 13–22 (2016).
   PubMed Web of Science ®Google Scholar
• Wallentin L , JamesS , StoreyRFet al. Effect of CYP2C19 and ABCB1 single-nucleotide polymorphisms on outcomes of treatment with ticagrelor versus clopidogrel for acute coronary syndromes: a genetic substudy of the PLATO trial. Lancet376(9749), 1320–1328 (2010).
   PubMed Web of Science ®Google Scholar
• Priyadharsini R , ShewadeDG , SubrajaKet al. single-nucleotide polymorphism of CYP3A5*3 contributes to clopidogrel resistance in coronary artery disease patients among Tamilian population. Mol. Biol. Rep.41(11), 7265–7271 (2014).
   PubMed Web of Science ®Google Scholar
• Zhang D , ZhangX , LiuDet al. Association between insulin receptor substrate-1 polymorphisms and high platelet reactivity with clopidogrel therapy in coronary artery disease patients with type 2 diabetes mellitus. Cardiovasc. Diabetol.15,50–57 (2016).
   PubMed Web of Science ®Google Scholar
• Lepäntalo A , MikkelssonJ , ReséndizJCet al. Polymorphisms of COX-1 and GPVI associate with the antiplatelet effect of aspirin in coronary artery disease patients. Thromb. Haemost.95(2), 253–259 (2006).
   PubMed Web of Science ®Google Scholar
• Viviani Anselmi C , BriguoriC , RoncaratiRet al. Routine assessment of on-clopidogrel platelet reactivity and gene polymorphisms in predicting clinical outcome following drug-eluting stent implantation in patients with stable coronary artery disease. JACC Cardiovasc. Interv.6(11), 1166–1175 (2013).
   PubMed Web of Science ®Google Scholar
• Wang JY , ZhangYJ , LiHet al. CRISPLD1 rs12115090 polymorphisms alters antiplatelet potency of clopidogrel in coronary artery disease patients in Chinese Han. Gene15(678), 226–232 (2013).
   Google Scholar
• Tantray JA , ReddyKP , JamilKet al. Pharmacodynamic and cytogenetic evaluation in CYP2C19*2 and CYP2C19*3 allelomorphism in South Indian population with clopidogrel therapy. Int. J. Cardiol.229, 113–118 (2017).
   PubMed Web of Science ®Google Scholar
• Yang HH , ChenY , GaoCY. Associations of P2Y12R gene polymorphisms with susceptibility to coronary heart disease and clinical efficacy of antiplatelet treatment with clopidogrel. Cardiovasc. Ther.34(6), 460–467 (2016).
   PubMed Web of Science ®Google Scholar
• Gladding P , WebsterM , ZengIet al. The pharmacogenetics and pharmacodynamics of clopidogrel response. An analysis from the PRINC (Plavix Response in Coronary Intervention) trial. JACC Cardiovasc. Interv.1(6), 620–627 (2008).
   PubMed Web of Science ®Google Scholar
• Cooke GE , Liu-StrattonY , FerketichAKet al. Effect of platelet antigen polymorphism on platelet inhibition by aspirin, clopidogrel, or their combination. J. Am. Cardiol.47(3), 541–546 (2006).
   Web of Science ®Google Scholar
• Xiao FY , LiuM , ChenBLet al. Effects of four novel genetic polymorphisms on clopidogrel efficacy in Chinese acute coronary syndromes patients. Gene623, 63–71 (2017).
   PubMed Web of Science ®Google Scholar
• Shuldiner AR , O’ConnellJR , BlidenKPet al. Association of cytochrome P450 2C19 genotype with the antiplatelet effect and clinical efficacy of clopidogrel therapy. JAMA302(8), 849–857 (2009).
   PubMed Web of Science ®Google Scholar
• Lewis JP , HorensteinRB , RyanKet al. The functional G143E variant of carboxylesterase 1 is associated with increased clopidogrel active metabolite levels and greater clopidogrel response. Pharmacogenet. Genomics23(1), 1–8 (2013).
   PubMed Web of Science ®Google Scholar
• Mega JL , CloseSL , WiviottSDet al. Cytochrome P450 genetic polymorphisms and the response to prasugrel relationship to pharmacokinetic, pharmacodynamic, and clinical outcomes. Circulation119(19), 2553–2560 (2009).
   PubMed Web of Science ®Google Scholar
• Clappers N , Van OijenMGH , SundaresanSet al. The C50T polymorphism of the cyclooxygenase-1 gene and the risk of thrombotic events during low-dose therapy with acetyl salicylic acid. Thromb. Haemost.100(1), 70–75 (2008).
   PubMed Web of Science ®Google Scholar
• Li H , ZhangYJ , LiMPet al. Association of N6AMT1rs2254638 polymorphism with clopidogrel response in Chinese patients with coronary artery disease. Front. Pharmacol.9,1039–1047 (2018).
   PubMed Web of Science ®Google Scholar
• Kreutz RP , OwensJ , DestaZet al. Polymorphisms and clopidogrel response. Clin. Pharmacol.5, 185–192 (2013).
   PubMedGoogle Scholar
• Mak M , LamC , PinedaSJet al. Pharmacogenetics of warfarin in a diverse patient population. J. Cardiovasc. Pharmacol. Ther.24(6), 521–533 (2019).
   PubMed Web of Science ®Google Scholar
• Verma SS , BergmeijerTO , GongLet al. Genomewide association study of platelet reactivity and cardiovascular response in patients treated with clopidogrel: a study by the International Clopidogrel Pharmacogenomics Consortium. Clin. Pharmacol. Ther.108(5), 1067–1077 (2020).
   PubMed Web of Science ®Google Scholar
• Saydam F , Değirmenciİ , BirdaneAet al. The CYP2C19*2 and CYP2C19*17 polymorphisms play a vital role in clopidogrel responsiveness after percutaneous coronary intervention: a pharmacogenomics study. Basic Clin. Pharmacol. Toxicol.121(1), 29–36 (2017).
   PubMed Web of Science ®Google Scholar
• Chen A , SteckerE , WardenBA. Direct oral anticoagulant use: a practical guide to common clinical challenges. J. Am. Heart Assoc.9(13), 1–18 (2020).
   Web of Science ®Google Scholar
• Kakkos SK , KirkilesisGI , TsolakisIA. Editor’s choice–efficacy and safety of the new oral anticoagulants dabigatran, rivaroxaban, apixaban, and edoxaban in the treatment and secondary prevention of venous thromboembolism: a systematic review and meta-analysis of phase III trials. Eur. J. Vasc. Endovasc. Surg.48(5), 565–575 (2014).
   PubMed Web of Science ®Google Scholar
• Paré G , ErikssonN , LehrTet al. Genetic determinants of dabigatran plasma levels and their relation to bleeding. Circulation127(13), 1404–1412 (2013).
   PubMed Web of Science ®Google Scholar
• Sennesael AL , LarockAS , DouxfilsJet al. Rivaroxaban plasma levels in patients admitted for bleeding events: insights from a prospective study. Thromb. J.16(1), 1–8 (2018).
   PubMedGoogle Scholar
• Kryukov AV , SychevDA , AndreevDAet al. Influence of ABCB1 and CYP3A5 gene polymorphisms on pharmacokinetics of apixaban in patients with atrial fibrillation and acute stroke. Pharmacogenomics Pers. Med.11, 43–49 (2018).
   PubMed Web of Science ®Google Scholar
• Vandell AG , LeeJ , ShiMet al. An integrated pharmacokinetic/pharmacogenomic analysis of ABCB1 and SLCO1B1 polymorphisms on edoxaban exposure. Pharmacogenomics J.18(1), 153–159 (2008).
   Google Scholar
• Scharplatz M , PuhanMA , SteurerJ , BachmannLM. What is the impact of the ACE gene insertion/deletion (I/D) polymorphism on the clinical effectiveness and adverse events of ACE inhibitors?–Protocol of a systematic review. BMC Med. Genet.5, 1–6 (2004).
   PubMedGoogle Scholar
• Flaten HK , MonteAA. The pharmacogenomic and metabolomic predictors of ACE inhibitor and angiotensin II receptor blocker effectiveness and safety. Cardiovasc. Drugs Ther.31(4), 471–482 (2017).
   PubMed Web of Science ®Google Scholar
• Konoshita T . Genomic Disease Outcome Consortium (G-DOC) study investigators. Do genetic variants of the renin-angiotensin system predict blood pressure response to renin-angiotensin system-blocking drugs? A systematic review of pharmacogenomics in the renin-angiotensin system. Curr. Hypertens. Rep.13(5), 356–361 (2011).
   PubMed Web of Science ®Google Scholar
• Oemrawsingh RM , AkkerhuisKM , Van VarkLCet al. Individualized angiotensin-converting enzyme (ACE)-inhibitor therapy in stable coronary artery disease based on clinical and pharmacogenetic determinants: The PERindopril GENEtic (PERGENE) risk model. J. Am. Heart Assoc.5(3), 1–11 (2015).
   Web of Science ®Google Scholar
• Brugts JJ , de MaatMPM , DanserAHJet al. Individualised therapy of angiotensin converting enzyme (ACE) inhibitors in stable coronary artery disease: overview of the primary results of the PERindopril GENEtic association (PERGENE) study. Netherlands Heart J.20(1), 24–32 (2012).
   PubMed Web of Science ®Google Scholar
• Tardif JC , PfefferMA , KouzSet al. Pharmacogenetics-guided dalcetrapib therapy after an acute coronary syndrome: the dal-GenE trial. Eur. Heart J.43(39), 3947–3956 (2022).
   PubMed Web of Science ®Google Scholar
• Knouff CW , LimN , SongKet al. Pharmacological effects of lipid-lowering drugs recapitulate with a larger amplitude the phenotypic effects of common variants within their target genes. Pharmacogenet. Genomics18(12), 1051–1057 (2008).
   PubMed Web of Science ®Google Scholar
• Beitelshees AL , NavareH , WangDet al. CACNA1C gene polymorphisms, cardiovascular disease outcomes, and treatment response. Circ. Cardiovasc. Genet.2(4), 362–370 (2009).
   PubMed Web of Science ®Google Scholar
• Shin J , JohnsonJA. Pharmacogenetics of β-blockers. Pharmacotherapy27(6), 874–887 (2007).
   PubMed Web of Science ®Google Scholar
• Vandell AG , LobmeyerMT , GawronskiBEet al. G protein receptor kinase 4 polymorphisms: β-blocker pharmacogenetics and treatment-related outcomes in hypertension. Hypertension60(4), 957–964 (2012).
   PubMed Web of Science ®Google Scholar
• Price ET , PacanowskiMA , MartinMAet al. Liver X receptor alpha gene polymorphisms and treated with antihypertensive therapy: results. Pharmacogenet. Genomics21(6), 333–340 (2012).
   Web of Science ®Google Scholar
• McDonough CW , GongY , PadmanabhanSet al. Pharmacogenomic association of nonsynonymous SNPs in SIGLEC12, A1BG, and the selectin region and cardivascular outcomes. Hypertension62(1), 48–54 (2013).
   PubMed Web of Science ®Google Scholar
• Niu Y , GongY , LangaeeTYet al. Genetic variation in the β2 subunit of the voltage-gated calcium channel and pharmacogenetic association with adverse cardiovascular outcomes in the international verapamil SR-trandolapril study genetic substudy (INVEST-GENES). Circ. Cardiovasc. Genet3(6), 548–555 (2010).
   PubMed Web of Science ®Google Scholar
• Poirier S , MayerG. The biology of PCSK9 from the endoplasmic reticulum to lysosomes: new and emerging therapeutics to control low-density lipoprotein cholesterol. Drug Des. Dev. Ther.7, 1135–1148 (2013).
   PubMed Web of Science ®Google Scholar
• Dua P , ReetaKH. PCSK9 (proprotein convertase subtilisin/Kexin type 9): a narrative review. J. Pract. Cardiovasc. Sci.6(3), 226–233 (2020).
   Google Scholar
• Warden BA , MilesJR , OleagaCet al. Unusual responses to PCSK9 inhibitors in a clinical cohort utilizing a structured follow-up protocol. Vol. 1. Am. J. Prevent. Cardiol.9(7), 104877 (2020).
   Google Scholar
• Zhang X , LiuQ , ZhangH. Hyperlipidemia patients carrying LDLR splicing mutation c.1187-2A>G respond favorably to rosuvastatin and PCSK9 inhibitor evolocumab. Mol. Genet. Genomics297, 833–841 (2022).
   PubMed Web of Science ®Google Scholar
• Meissner K , SperkerB , KarstenCZet al. Expression and localization of P-glycoprotein in human heart: effects of cardiomyopathy. J. Histochem. Cytochem.50(10), 1351–1356 (2002).
   PubMed Web of Science ®Google Scholar