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1、JournaloftheAmericanCollegeofCardiologyVol.56,No.4,2010©2010bytheAmericanCollegeofCardiologyFoundationISSN0735-1097/$36.00PublishedbyElsevierInc.doi:10.1016/j.jacc.2010.02.051STATE-OF-THE-ARTPAPERGeneticsandGenomicsofStrokeNovelApproachesAlisonE.Baird,MBBS,PHDBrooklyn,NewYorkEvid
2、enceforageneticbasisforstrokecomesfromtwinandfamilystudiesandfromtheoccurrenceofanum-berofuncommonmonogenicdisorders,butthecontributionofgeneticfactorsidentifiedforstrokesofarissmall.Advancesingeneticsandgenomicsmaypermitnewinsights.Inrecentgenome-wideassociationstudies,anumberofs
3、ingle-nucleotidepolymorphismshavebeenassociatedwithspecificstrokesubtypesandmajorstrokeriskfactorssuchasdiabetesandatrialfibrillation.Theseawaitreplication.Studiesofmessengerribonu-cleicacidexpressionhavealsoshownpromiseforthedevelopmentofgenomicsignaturesforstrokeclassifica-tion.St
4、rokeandcoronaryheartdiseasesharesomefeaturesofpathophysiology,risk,andtreatment,andtheirgeneticandgenomicbasesalsoappeartooverlap.(JAmCollCardiol2010;56:245–53)©2010bytheAmericanCollegeofCardiologyFoundationWhenthehumangenomewassequencedin2003,the(PAR)forstroke(9,10),asopposedtor
5、iskfactorsidentifiedimplicationsforcardiovascularandstrokemedicineinforCHD,whichmayaccountformorethan90%ofthetermsofthenewdiagnostic,therapeutic,andpreventiveattributablerisk(11).Themechanismsforover30%ofstrategiesthatmayultimatelyresultwereimmediatelyischemicstrokesarenotknown,ev
6、enafterextensiveworkuprecognized(1,2).Geneticandgenomicfactorsappearto(1214).Strokediagnosisisinaccurateinupto30%ofcontributetoallstagesofthedevelopmentofvascularpatientsacutely,anditisnotpossibletoreliablydistinguishdisease,frompredisposition,throughriskandsubclinicalbetweenisch
7、emicandhemorrhagicstrokeclinically.Nodisease,toovertdisease.Althoughthecontributionofblood-baseddiagnosticmarkerhasyetbeendevelopedforgeneticfactorsidentifiedforstrokeissmallatpresent,itisstroke,unlikeforacutecoronarysyndromes;thismightbeverypossiblethatthesequencingofthegenomemay
8、resultbecauseofissuesrelatedtotheblood-b
