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主动脉夹层动脉瘤与主动脉真性动脉瘤的单核苷酸多态性研究 1 2 AnalysisofCandidateGenesbyDNASequencingThe 1ChainofTypeIIICollagenFibulin 2MatrixMetallopeptidase2TissueInhibitorofMetallopeptidase1and2CholesterylEsterTransferProteinGeneticAssociationStudiesUsingKnownPolymorphismsinCandidateGenes 3 GroupI GenesoftheECM StructureandRemodelingoftheAortaGroupII GenesoftheCardiovascularSystemGroupIII GenesoftheImmuneSystemGroupIV GenesofSignalingPathways 4 GroupI GenesoftheECM StructureandRemodelingoftheAorta 1ChainofTypeIIICollagenFibrillin1ElastinATP bindingCassetteTransporter SubfamilyC CFTR MRP Member6Fibulin 5FamilyofMatrixMetallopeptidasesTissueInhibitorofMetallopeptidase1 2 and3SerinePeptidaseInhibitor CladeA Member1SerinePeptidaseInhibitor CladeE Member1SecretedPhosphoprotein1Xylosyltransferase1CystatinC 5 GroupII GenesoftheCardiovascularSystemGenesInvolvedintheRenin Angiotensin AldosteroneSystemAngiotensin1convertingenzymeAngiotensinogenAngiotensinogenIIreceptor type1Bradykininreceptor2GenesInvolvedinLipidMetabolismApolipoproteinB includingAg x antigen ApolipoproteinECholesterylEsterTransferProteinCoagulationFactorII thrombin andCoagulationFactorV Proaccelerin LabileFactor GenesInvolvedintheMethionineMetabolism5 10 MethylenetetrahydrofolatereductaseMethylenetetrahydrofolatedehydrogenase15 Methyltetrahydrofolate homocysteinemethyltransferase5 Methyltetrahydrofolate homocysteinemethyltransferasereductaseThymidylatesynthetaseAdenosylhomocysteinaseFolatehydrolase1EndothelialConstitutiveNitricOxideSynthaseProstaglandin endoperoxideSynthase2HaptoglobinBloodGroups 6 GroupIII GenesoftheImmuneSystemHumanLeukocyteAntigenLocusChemokine C Cmotif Receptor5Interleukin1 Interleukin1 andInterleukin1ReceptorAntagonistInterleukin6 interferon 2 Interleukin10PhospholipaseA2 GroupVIITumorNecrosisFactorPeroxisomeProliferator ActivatedReceptorGammaC reactiveProteinHemeOxygenase decycling 1 7 GroupIV GenesofSignalingPathwaysTransformingGrowthFactor 1andTransformingGrowthFactor 1 ReceptorTransformingGrowthFactor 2 ReceptorADutchstudyinvestigatedninedifferentSNPswithtwolargecase controlsets andtwooftheSNPs rs1036095andrs4522809 showedanassociationwithAAAinbothcase controlsetsTransformingGrowthFactor 3LatentTGF BindingProteins1 3 and4SeveralSNPs nt 4234A G 10384G A 21011A T 25859C Tand32603C G intheLTBP4geneshowedanassociationwithAAAgrowthrates EstrogenReceptors1and2andProgesteroneReceptor 8 Genome WideAssociationStudies ASNP rs763518 locatedonchromosome3p12 3 aregionnearcontactin 3 CNTN3 gene wasassociatedwithAAATheCNTN3proteinisalipid anchoredcelladhesionmoleculeknowntobeexpressedinnervoustissue213andaorticwallTheAalleleofaSNP rs7025486 on9q33wasfoundtoassociatewithAAA ThisSNPislocatedwithinDAB2IP whichencodesaninhibitorofcellgrowthandsurvival 9 现有机制 XylosyltransferaseIvariantsandtheirimpactonabdominalaorticaneurysms ClinChimActa 2008May 391 1 2 41 5 TheT alleleofthepolymorphismc 343G T p A115S wasfoundtobesignificantlymorefrequentinAAApatientscomparedtothehealthycontrolgroup demonstratingthatcarriersoftheT allelehavea5 foldincreasedriskofdevelopingAAA oddsratio4 87 95 CI1 38 17 19 p 0 011 CONCLUSIONS OurresultsshowthatXT IpolymorphismspotentiallyconfertothegeneticsusceptibilityofAAA 10 高危因素 高同型半胱氨酸血症HCY增高JMedGenet 2008Nov 45 11 721 30 Epub2008Jul17 Geneticanalysisof56polymorphismsin17genesinvolvedinmethioninemetabolisminpatientswithabdominalaorticaneurysm Rs8003379MTHFD1
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