Role of C677T and A1298C MTHFR, A2756G MTR and -786 CT eNOS Gene Polymorphisms in Atrial Fibrillation Susceptibility 英文参考文献.docVIP

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Role of C677T and A1298C MTHFR, A2756G MTR and -786 CT eNOS Gene Polymorphisms in Atrial Fibrillation Susceptibility 英文参考文献.doc

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Role of C677T and A1298C MTHFR, A2756G MTR and -786 CT eNOS Gene Polymorphisms in Atrial Fibrillation Susceptibility 英文参考文献

RoleofC677TandA1298CMTHFR,A2756GMTRand-786 C/TeNOSGenePolymorphismsinAtrialFibrillation Susceptibility BettiGiusti1*,AnnaMariaGori1,RossellaMarcucci1,IlariaSestini1,ClaudiaSaracini1,ElenaSticchi3,FrancescaGensini2,CinziaFatini1 ,Rosanna Abbate1,GianFrancoGensini3 1DepartmentofMedicalandSurgicalCriticalCareandCenterofResearch,TransferandHighEducation,‘‘DENOTHE’’,UniversityofFlorence,Florence, Italy, 2Department of Clinical Pathophysiology, Section of Medical Genetics, University of Florence, Florence, Italy, 3Don Carlo Gnocchi ONLUS Foundation,CentroS.MariaagliUlivi-IRCCS,Florence,Italy Background. Hyperhomocysteinemia has been suggested to play a role in the NonValvular Atrial Fibrillation (NVAF) pathogenesis. Polymorphisms in genes coding for homocysteine (Hcy) metabolism enzymes may be associated with hyperhomocysteinemia and NVAF. Methodologies. 456 NVAF patients and 912 matched controls were genotyped by an electronicmicrochiptechnologyforC677TandA1298CMTHFR,A2756GMTR,and-786C/TeNOSgenepolymorphisms.Hcywas determinedbyanimmunoassaymethod.PrincipalFindings.Thegenotypedistributionofthefourpolymorphismsaswellas genotypecombinationsdidnotdifferinpatientsandcontrols.Hcywashigherinpatientsthanincontrols(15.2,95%CI14.7– 15.7vs11.3,95%CI11.0–11.6mmol/L;p,0.0001).Inbothpopulations,agenotype-phenotypeassociation(p,0.0001)between HcyandC677TMTHFRpolymorphismwasobserved;incontrolsasignificant(p=0.029)associationbetweentHcyand2786C/T eNOSpolymorphismwasalsoobserved.AtthemultivariateanalysistheNVAFrisksignificantlyincreasedintheupperquartiles ofHcycomparedtothelowest:ORfrom2.8(1.68–4.5495%CI)inQ2to12.9(7.96–21.0695%CI)inQ4.Conclusions.Ourdata demonstratedthefourpolymorphisms,althoughable,atleastinpart,toaffectHcy,werenotassociatedwithanincreasedrisk ofNVAFperseorincombination. Citation: GiustiB,GoriAM,MarcucciR,SestiniI,SaraciniC,etal(2007)RoleofC677TandA1298CMTHFR,A2756GMTRand-786C/TeNOSGene PolymorphismsinAtrialFibrillationSusceptibility.PLoSONE2(6):e495.doi:10.1371/journ