简介：Inheritedcardiomyopathiesaremajorcausesofmorbidityandmortalityandincludeagroupofcardiacdisorderssuchashypertrophiccardiomyopathy(HCM),dilatedcardiomyopathy,arrhythmogenicrightventriculardysplasia/cardiomyopathy(ARVD/C),leftventricularnoncompaction(LVNC),andrestrictivecardiomyopathy(RCM).Thesediseaseshaveasubstantialgeneticcomponentandpredisposetosuddencardiacdeath.Sincethefirstgenewasidentifiedasadisease-causinggeneforHCMovertwodecadesago,morethaneightygeneshavebeenidentifiedtobeassociatedwithinheritedcardiomyopathiesandgenetictestinghasbecomeprevalentinmakingclinicaldiagnosis.Withtheadventofnext-generationsequencingtechnology,geneticpaneltestingofinheritedcardiomyopathieshasbecomefeasibleandcostefficient.Inthisreview,wesummarizetheindividualcardiomyopathieswiththeemphasisoncardiomyopathygeneticsandgenetictesting.

简介：BackgroundAtrialfibrillation(AF)wasusedtobeconsideredasnongeneticsdisorder,butrecentstudieshaverevealedthatgeneticsvariantsconferredsusceptibilitytoAFdevelopment,butmostwithlimitedevidence.Inordertosystematicallyevaluatetheoverallcontributionsofgene-diseaseassociationstudiestocurrentunderstandingsofthegeneticsusceptibilitytoatrialfibrillation,weperformasystematicreviewandmeta-analysisbasedoncomprehensivesearches.MethodAllstudiesontheassociationsofgeneticsvariantswithAFriskwereidentifiedbysearchingthefollowingdatabases:Medline,Embase,BIOSIS,GlobalHealth,LILACSandCBMDisc.Oddsratios(CI)and95%confidenceintervals(CI)werecalculatedunderhomozygotecomparison(HC),dominantmodel(DM)andrecessivemodel(RM),respectively.ResultsAtotalof41studieson32genesand72polymorphismslocationswereidentified.ThesummaryORwasstatisticallysignificantassociationsin23(31.94%)singlenucleotidepolymorphisms(SNPs).Thegenesinrenin-angiotensin-aldosteronesystem(RAAS)andionchannelswerethemostlystudied.FourSNPs(50.00%)inRAASgenesweresignificantlyassociatedwithAFsusceptibility:ACEI/D(HC:OR=1.53,95%CI:1.14-2.0DM:OR=1.47,95%CI:0.86-1.53;RM:OR=0.49,95%CI:0.41-0.59);AGTA-20C(HC:OR=1.56,95%CI:1.41-2.12);AGTM235T(HC:OR=2.37,95%CI:1.21-4.65).StatisticallysignificantassociationswerealsofoundinthefollowinggenesandSNPs:ABCA1G1051A,BCHEG1615A,CETPA1061G,I405V,TaqIB,CRPC1444T,EDN2A985G,eNOST-786C,IL-10T-819C,A-592C,MinKG38S,KCNH2rs1805120,Kir3.4C171T,G810T,MMP2C-1306T,FactorⅡG20210A,SCN5AH58R,SLC26A8I639V,G-proteinβ-subunitC825T,chromatosome4q25rs2200733andrs10033464.ConclusionsNearlyone-thirdofSNPswerestatisticallysignificantassociatedwithAFrisk,withvariantsinRAASgenesmosthighlysignificantassociation.Morestudiesonawiderangeofgenesaremerited.