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Review

Pathogenesis of coronary artery disease: focus on genetic risk factors and identification of genetic variants

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Pages 15-32 | Published online: 16 Jan 2014

References

  • MurrayCJVosTLozanoRDisability-adjusted life years (DALYs) for 291 diseases and injuries in 21 regions, 1990–2010: a systematic analysis for the Global Burden of Disease Study 2010Lancet20123802197222323245608
  • Lluis-GanellaCGenetic Factors Associated with Coronary Heart Disease and Analysis of their Predictive CapacityBarcelona, SpainUniversitat Pompeu Fabra2012
  • MecchiaDLavezziAMMauriMMatturriLFeto-placental atherosclerotic lesions in intrauterine fetal demise: role of parental cigarette smokingOpen Cardiovasc Med J20093515619572018
  • LusisAJMarRPajukantaPGenetics of atherosclerosisAnnu Rev Genomics Hum Genet2004518921815485348
  • GlassCKWitztumJLAtherosclerosis. the road aheadCell200110450351611239408
  • SanzJMorenoPFusterVThe year in atherothrombosisJ Am Coll Cardiol201324621131114323916939
  • TabasIGlassCKAnti-inflammatory therapy in chronic disease: challenges and opportunitiesScience201333916617223307734
  • SakakuraKNakanoMOtsukaFLadichEKolodgieFDVirmaniRPathophysiology of atherosclerosis plaque progressionHeart Lung Circ20132239941123541627
  • GhattasAGriffithsHRDevittALipGYShantsilaEMonocytes in coronary artery disease and atherosclerosis: where are we now?J Am Coll Cardiol2013621541155123973684
  • LibbyPRidkerPMHanssonGKProgress and challenges in translating the biology of atherosclerosisNature201147331732521593864
  • WitztumJLLichtmanAHThe infuence of innate and adaptive immune responses on atherosclerosisAnnu Rev Pathol872013 [Epub ahead of print.]
  • LibbyPInflammation in atherosclerosisArterioscler Thromb Vasc Biol2012322045205122895665
  • TabasIMacrophage death and defective infammation resolution in atherosclerosisNat Rev Immunol201010364619960040
  • FinnAVNakanoMNarulaJKolodgieFDVirmaniRConcept of vulnerable/unstable plaqueArterioscler Thromb Vasc Biol2010301282129220554950
  • DoyleBCapliceNPlaque neovascularization and antiangiogenic therapy for atherosclerosisJ Am Coll Cardiol2007492073208017531655
  • VisscherPMHillWGWrayNRHeritability in the genomics era – concepts and misconceptionsNat Rev Genet2008925526618319743
  • ElosuaRLluis-GanellaCLucasGResearch into the genetic component of heart disease: from linkage studies to genome-wide genotypingRev Esp Cardiol Suppl20099Suppl24B38B
  • PedenJFFarrallMThirty-fve common variants for coronary artery disease: the fruits of much collaborative labourHum Mol Genet201120R198R20521875899
  • ChialHMendelian genetics: patterns of inheritance and single-gene disordersNature Education200811 Available from: http://www.nature.com/scitable/topicpage/mendelian-genetics-patterns-of-inheritance-and-single-966Accessed November 4, 2013
  • LoboIMultifactorial inheritance and genetic diseaseNature Education200811 Available from: http://www.nature.com/scitable/topicpage/multifactorial-inheritance-and-genetic-disease-919Accessed November 4, 2013
  • DeloukasPKanoniSWillenborgCLarge-scale association analysis identifies new risk loci for coronary artery diseaseNat Genet201345253323202125
  • DawnTMBarrettJHGenetic linkage studiesLancet20053661036104416168786
  • KathiresanSSrivastavaDGenetics of human cardiovascular diseaseCell20121481242125722424232
  • WangJGStaessenJAFranklinSSFagardRGueyffierFSystolic and diastolic blood pressure lowering as determinants of cardiovascular outcomeHypertension20054590791315837826
  • HelgadottirAManolescuAThorleifssonGThe gene encoding 5-lipoxygenase activating protein confers risk of myocardial infarction and strokeNat Genet20043623323914770184
  • WangLFanCTopolSETopolEJWangQMutation of MEF2A in an inherited disorder with features of coronary artery diseaseScience20033021578158114645853
  • VarretMRabesJPSaint-JoreBA third major locus for autosomal dominant hypercholesterolemia maps to 1p34.1-p32Am J Hum Genet1999641378138710205269
  • RischNMerikangasKThe future of genetic studies of complex human diseasesScience1996273151615178801636
  • ZhuMZhaoSCandidate gene identification approach: progress and challengesInt J Biol Sci2007342042717998950
  • TaborHKRischNJMyersRMCandidate-gene approaches for studying complex genetic traits: practical considerationsNat Rev Genet2002339139711988764
  • AttiaJIoannidisJPThakkinstianAHow to use an article about genetic association. C: What are the results and will they help me in caring for my patients?JAMA200930130430819155457
  • LohmuellerKEPearceCLPikeMLanderESHirschhornJNMeta-analysis of genetic association studies supports a contribution of common variants to susceptibility to common diseaseNat Genet20033317718212524541
  • VisscherPMBrownMAMcCarthyMIYangJFive years of GWAS discoveryAm J Hum Genet20129072422243964
  • The International HapMap ConsortiumA haplotype map of the human genomeNature20054371299132016255080
  • US Department of Energy Human Genome Project Available from: http://www.ornl.gov/hgmisAccessed November 4, 2013
  • ArkingDEChakravartiAUnderstanding cardiovascular disease through the lens of genome-wide association studiesTrends Genet20092538739419716196
  • PurcellSNealeBTodd-BrownKPLINK: a tool set for whole-genome association and population-based linkage analysesAm J Hum Genet20078155957517701901
  • AulchenkoYSRipkeSIsaacsAvan DuijnCMGenABEL: an Rlibrary for genome-wide association analysisBioinformatics2007231294129617384015
  • RobertsRStewartAFGenes and coronary artery disease: where are we?J Am Coll Cardiol2012601715172123040572
  • ManolioTACollinsFSCoxNJFinding the missing heritability of complex diseasesNature200946174775319812666
  • HindorffLAJunkinsHAMehtaJPManolioTAA catalog of published genome-wide association studies Available from: http://www.genome.gov/gwastudiesAccessed November 4, 2013
  • MarianAJChallenges in medical applications of whole exome/genome sequencing discoveriesTrends Cardiovasc Med20122221922322921985
  • AlmasyLThe role of phenotype in gene discovery in the whole genome sequencing eraHum Genet20121311533154022722752
  • HelgadottirAThorleifssonGManolescuAA common variant on chromosome 9p21 affects the risk of myocardial infarctionScience20073161491149317478679
  • McPhersonRPertsemlidisAKavaslarNA common allele on chromosome 9 associated with coronary heart diseaseScience20073161488149117478681
  • Wellcome Trust Case Control ConsortiumGenome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controlsNature200744766167817554300
  • DupuisJLangenbergCProkopenkoINew genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes riskNat Genet20104210511620081858
  • EhretGBMunroePBRiceKMGenetic variants in novel pathways infuence blood pressure and cardiovascular disease riskNature201147810310921909115
  • HeidIMJacksonAURandallJCMeta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distributionNat Genet20104294996020935629
  • SpeliotesEKWillerCJBerndtSIAssociation analyses of 249,796 individuals reveal 18 new loci associated with body mass indexNat Genet20104293794820935630
  • TeslovichTMMusunuruKSmithAVBiological, clinical and population relevance of 95 loci for blood lipidsNature201046670771320686565
  • VoightBFScottLJSteinthorsdottirVTwelve type 2 diabetes susceptibility loci identified through large-scale association analysisNat Genet20104257958920581827
  • WainLVVerwoertGCO’ReillyPFGenome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressureNat Genet2011431005101121909110
  • AbifadelMVarretMRabesJPMutations in PCSK9 cause autosomal dominant hypercholesterolemiaNat Genet20033415415612730697
  • LambertGSjoukeBChoqueBKasteleinJJHovinghGKThe PCSK9 decadeJ Lipid Res2012532515252422811413
  • RothEMMcKenneyJMHanotinCAssetGSteinEAAtorvastatin with or without an antibody to PCSK9 in primary hypercholesterolemiaN Engl J Med20123671891190023113833
  • McPhersonRChromosome 9p21.3 locus for coronary artery disease: how little we knowJ Am Coll Cardiol201362151382138323933540
  • AgueroFDeganoIRSubiranaIImpact of a partial smoke-free legislation on myocardial infarction incidence, mortality and case-fatality in a population-based registry: the REGICOR studyPLoS One20138e5372223372663
  • PerkJDe BackerGGohlkeHEuropean guidelines on cardiovascular disease prevention in clinical practice (version 2012)Rev Esp Cardiol20126566241
  • Expert Panel on Detection, Evaluation, and Treatment of High Blood Cholesterol in AdultsExecutive Summary of The Third Report of The National Cholesterol Education Program (NCEP) Expert Panel on Detection, Evaluation, And Treatment of High Blood Cholesterol In Adults (Adult Treatment Panel III)JAMA20012852486249711368702
  • WilsonPWD’AgostinoRBLevyDBelangerAMSilbershatzHKannelWBPrediction of coronary heart disease using risk factor categoriesCirculation199897183718479603539
  • MarrugatJVilaJBaena-DiezJMRelative validity of the 10-year cardiovascular risk estimate in a population cohort of the REGICOR studyRev Esp Cardiol20116438539421482004
  • WangTJAssessing the role of circulating, genetic, and imaging biomarkers in cardiovascular risk predictionCirculation201112355156521300963
  • CandoreGBalistreriCRCarusoMPharmacogenomics: a tool to prevent and cure coronary heart diseaseCurr Pharm Des2007133726373418220812
  • EvansWEMcLeodHLPharmacogenomics – drug disposition, drug targets, and side effectsN Engl J Med200334853854912571262
  • MarinFGonzalez-ConejeroRCapranzanoPBassTARoldanVAngiolilloDJPharmacogenetics in cardiovascular antithrombotic therapyJ Am Coll Cardiol2009541041105719744613
  • MotulskyAGDrug reactions enzymes, and biochemical geneticsJ Am Med Assoc195716583583713462859
  • RosesADPharmacogenetics and future drug development and deliveryLancet20003551358136110776762
  • VooraDGinsburgGSClinical application of cardiovascular pharmacogeneticsJ Am Coll Cardiol20126092022742397
  • VerschurenJJTrompetSWesselsJAA systematic review on pharmacogenetics in cardiovascular disease: is it ready for clinical application?Eur Heart J20123316517521804109
  • SimonJALinFHulleySBPhenotypic predictors of response to simvastatin therapy among African-Americans and Caucasians: the Cholesterol and Pharmacogenetics (CAP) StudyAm J Cardiol20069784385016516587
  • IakoubovaOASabatineMSRowlandCMPolymorphism in KIF6 gene and benefit from statins after acute coronary syndromes: results from the PROVE IT-TIMI 22 studyJ Am Coll Cardiol20085144945518222355
  • IakoubovaOATongCHRowlandCMAssociation of the Trp719Arg polymorphism in kinesin-like protein 6 with myocardial infarction and coronary heart disease in 2 prospective trials: the CARE and WOSCOPS trialsJ Am Coll Cardiol20085143544318222353
  • HopewellJCParishSClarkeRNo impact of KIF6 genotype on vascular risk and statin response among 18,348 randomized patients in the heart protection studyJ Am Coll Cardiol2011572000200721458191
  • RidkerPMMacFadyenJGGlynnRJChasmanDIKinesin-like protein 6 (KIF6) polymorphism and the efficacy of rosuvastatin in primary preventionCirc Cardiovasc Genet2011431231721493817
  • LinkEParishSArmitageJSLCO1B1 variants and statin-induced myopathy – a genomewide studyN Engl J Med200835978979918650507
  • JohnsonJACavallariLHBeitelsheesALLewisJPShuldinerARRodenDMPharmacogenomics: application to the management of cardiovascular diseaseClin Pharmacol Ther20119051953121918509
  • ZabalzaMSubiranaISalaJMeta-analyses of the association between cytochrome CYP2C19 loss- and gain-of-function polymorphisms and cardiovascular outcomes in patients with coronary artery disease treated with clopidogrelHeart20129810010821693476
  • US Department of Health and Human ServicesInformation on clopidogrel bisulfate. 27-10-2007 Available from: http://www.fda.gov/Drugs/DrugSafety/PostmarketDrugSafetyInformationforPatientsandProviders/ucm190836.htmAccessed November 4, 2013
  • HolmesDRJrDehmerGJKaulSLeiferDO’GaraPTSteinCMACCF/AHA Clopidogrel clinical alert: approaches to the FDA “boxed warning”: a report of the American College of Cardiology Foundation Task Force on Clinical Expert Consensus Documents and the American Heart AssociationCirculation201012253755720585015
  • BauerTBoumanHJvan WerkumJWFordNFten BergJMTaubertDImpact of CYP2C19 variant genotypes on clinical efficacy of antiplatelet treatment with clopidogrel: systematic review and meta-analysisBMJ2011343d458821816733
  • HolmesMVPerelPShahTHingoraniADCasasJPCYP2C19 genotype, clopidogrel metabolism, platelet function, and cardiovascular events: a systematic review and meta-analysisJAMA20113062704271422203539
  • MaoucheSSchunkertHStrategies beyond genome-wide association studies for atherosclerosisArterioscler Thromb Vasc Biol20123217018122258900
  • EvangelouEIoannidisJPMeta-analysis methods for genome-wide association studies and beyondNat Rev Genet20131437938923657481
  • PrinsBPLagouVAsselbergsFWSniederHFuJGenetics of coronary artery disease: genome-wide association studies and beyondAtherosclerosis201222511022698794
  • ManolioTABringing genome-wide association findings into clinical useNat Rev Genet20131454955823835440
  • ChatterjeeNWheelerBSampsonJHartgePChanockSJParkJHProjecting the performance of risk prediction based on polygenic analyses of genome-wide association studiesNat Genet20134540040323455638
  • HudsonKLHolohanMKCollinsFSKeeping pace with the times – the Genetic Information Nondiscrimination Act of 2008N Engl J Med20083582661266318565857
  • NoraJJLortscherRHSpanglerRDNoraAHKimberlingWJGenetic-epidemiologic study of early-onset ischemic heart diseaseCirculation1980615035087353240
  • ZdravkovicSWienkeAPedersenNLMarenbergMEYashinAIde FaireUHeritability of death from coronary heart disease: a 36-year follow-up of 20 966 Swedish twinsJ Intern Med200225224725412270005
  • WienkeAHolmNVSkyttheAYashinAIThe heritability of mortality due to heart diseases: a correlated frailty model applied to Danish twinsTwin Res2001426627411665307
  • PeyserPABielakLFChuJSHeritability of coronary artery calcium quantity measured by electron beam computed tomography in asymptomatic adultsCirculation200210630430812119244
  • XiangAHAzenSPBuchananTAHeritability of subclinical atherosclerosis in Latino families ascertained through a hypertensive parentArterioscler Thromb Vasc Biol20022284384812006400
  • FoxCSPolakJFChazaroIGenetic and environmental contributions to atherosclerosis phenotypes in men and women: heritability of carotid intima-media thickness in the Framingham Heart StudyStroke20033439740112574549
  • SwanLBirnieDHInglisGConnellJMHillisWSThe determination of carotid intima medial thickness in adults – a population-based twin studyAtherosclerosis200316613714112482560
  • NorthKEMacCluerJWDevereuxRBHeritability of carotid artery structure and function: the Strong Heart Family StudyArterioscler Thromb Vasc Biol2002221698170312377752
  • HuntKJDuggiralaRGoringHHGenetic basis of variation in carotid artery plaque in the San Antonio Family Heart StudyStroke2002332775278012468769
  • HennekensCHBuringJEEpidemiology in MedicineBoston, MALittle, Brown and Company1987
  • HirschhornJNLohmuellerKByrneEHirschhornKA comprehensive review of genetic association studiesGenet Med20024456111882781
  • HulleySCummingsSRBrownerWSDesigning Clinical Research: An Epidemiologic ApproachBaltimore, MDLippincott, Williams and Wilkins2001
  • KhouryMJBeatyTCohenBFundamentals of Genetic EpidemiologyNew York, NYOxford University Press1993
  • IoannidisJPWhy most discovered true associations are infatedEpidemiology20081964064818633328
  • IoannidisJPWhy most published research findings are falsePLoS Med20052e12416060722
  • PearsonTAManolioTAHow to interpret a genome-wide association studyJAMA20082991335134418349094
  • DaviesRWDandonaSStewartAFImproved prediction of cardiovascular disease based on a panel of single nucleotide polymorphisms identified through genome-wide association studiesCirc Cardiovasc Genet2010346847420729558
  • AndersonJLHorneBDCampNJJoint effects of common genetic variants from multiple genes and pathways on the risk of premature coronary artery diseaseAm Heart J201016025025620691829
  • QiLMaJQiQHartialaJAllayeeHCamposHGenetic risk score and risk of myocardial infarction in HispanicsCirculation201112337438021242481
  • QiLParastLCaiTGenetic susceptibility to coronary heart disease in type 2 diabetes: 3 independent studiesJ Am Coll Cardiol2011582675268222152955
  • LvXZhangYRaoSJoint effects of genetic variants in multiple loci on the risk of coronary artery disease in Chinese Han subjectsCirc J2012761987199222664640
  • PatelRSSunYVHartialaJAssociation of a genetic risk score with prevalent and incident myocardial infarction in subjects undergoing coronary angiographyCirc Cardiovasc Genet2012544144922767652
  • HughesMFSaarelaOStritzkeJGenetic markers enhance coronary risk prediction in men: the MORGAM prospective cohortsPLoS One20127e4092222848412
  • VaarhorstAALuYHeijmansBTLiterature-based genetic risk scores for coronary heart disease: the Cardiovascular Registry Maastricht (CAREMA) prospective cohort studyCirc Cardiovasc Genet2012520220922373668
  • MorrisonACBareLAChamblessLEPrediction of coronary heart disease risk using a genetic risk score: the Atherosclerosis Risk in Communities studyAm J Epidemiol2007166283517443022
  • KathiresanSMelanderOAnevskiDPolymorphisms associated with cholesterol and risk of cardiovascular eventsN Engl J Med20083581240124918354102
  • TalmudPJCooperJAPalmenJChromosome 9p21.3 coronary heart disease locus genotype and prospective risk of CHD in healthy middle-aged menClin Chem20085446747418250146
  • BrautbarABallantyneCMLawsonKImpact of adding a single allele in the 9p21 locus to traditional risk factors on reclassification of coronary heart disease risk and implications for lipid-modifying therapy in the Atherosclerosis Risk in Communities studyCirc Cardiovasc Genet2009227928520031596
  • PaynterNPChasmanDIBuringJEShiffmanDCookNRRidkerPMCardiovascular disease risk prediction with and without knowledge of genetic variation at chromosome 9p21.3Ann Intern Med2009150657219153409
  • PaynterNPChasmanDIPareGAssociation between a literature-based genetic risk score and cardiovascular events in womenJAMA201030363163720159871
  • RipattiSTikkanenEOrho-MelanderMA multilocus genetic risk score for coronary heart disease: case-control and prospective cohort analysesLancet20103761393140020971364
  • ShiffmanDO’MearaESRowlandCMThe contribution of a 9p21.3 variant, a KIF6 variant, and C-reactive protein to predicting risk of myocardial infarction in a prospective studyBMC Cardiovasc Disord2011111021406102
  • ThanassoulisGPelosoGMPencinaMJA genetic risk score is associated with incident cardiovascular disease and coronary artery calcium – the Framingham Heart StudyCirc Cardiovasc Genet2012511312122235037
  • Lluis-GanellaCSubiranaILucasGAssessment of the value of a genetic risk score in improving the estimation of coronary riskAtherosclerosis201222245646322521901
  • GransboKAlmgrenPSjogrenMChromosome 9p21 genetic variation explains 13% of cardiovascular disease incidence but does not improve risk predictionJ Intern Med201327423324023480785
  • IsaacsAWillemsSMBosDRisk scores of common genetic variants for lipid levels infuence atherosclerosis and incident coronary heart diseaseArterioscler Thromb Vasc Biol2013332233223923766260
  • GannaAMagnussonPKPedersenNLMultilocus genetic risk scores for coronary heart disease predictionArterioscler Thromb Vasc Biol2013332267227223685553
  • TikkanenEHavulinnaASPalotieASalomaaVRipattiSGenetic risk prediction and a 2-stage risk screening strategy for coronary heart diseaseArterioscler Thromb Vasc Biol2013332261226623599444