基因多态性与冠心病

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1、GenePolymorphismsandCoronaryHeartDiseaseFangZhengClinicLab,ZhongnanHospital,WuhanUniversityCoronaryHeartDiseaseisstilltheNo.1killerintheworld.GeneticsEnvironmentalLifestyleThepreventionofCHDisbasedonthecontrolofseveralfactorsassociatedwithadiseaseorclinicalconditionandsuspected

2、toplayapathogeneticalrole,definedasriskfactors.TheriskfactorsofCHDincluded:AgeClottingfactorsSexFibrinolyticfactorsHypertensionHyperhomocysteinaemiaSmokingInflammationfactorsDiabetesEndotheliumfactorHyperlipidaemiaNutritionfactorObesityPost-menopausalstatusGeneticfactorsEmerged

3、CHDRiskFactorsButonlyin5%ofhereditaryCHD,thegenebackgroundwasclear.Intheothers,eachgeneticfactorplayedaminorroleinoccurrenceanddevelopmentofthedisease.Raremutations(e.g.,intheLDLRandAPOEgenes)mayhaveamajoreffect,whereasgenesbelongingtonormalpolymorphismhaveonlyamoderateeffect.B

4、utevengeneswithonlyaslighteffectcanbeclinicallyimportantincombinationwithothergenes.Theimportanceofpolymorphismanalyseswillincreasesignificantlyinthenearfuture.What’snormalpolymorphism?Theoccurrenceinapopulation(oramongpopulations)ofseveralphenotypicformsassociatedwithallelesof

5、onegeneorhomologsofonechromosome.Theoccurrencetogetherinthesamepopulationofmorethanonealleleorgeneticmarkeratthesamelocuswiththeleastfrequentalleleormarkeroccurringmorefrequentlythancanbeaccountedforbymutationalone.PolymorphismandMutationTheyarebothsinglenucleotidepoly-morphism

6、，SNP.polymorphism－－normalphenotypemutation－－diseasepolymorphism－－moremutation－－lessCardiovasculardiseaseiscomplexasaconsequenceofpleiotropy.Theseincludedenvironmentalandgeneticsfactors.Genepolymorphismplayedanimportantroleintheoccurrenceanddevelopmentofcardiovasculardisease.And

7、itcanbeappliedontheprediction,diagnosis,treatmentandprognosis.1.ThegenepolymorphismsasindependentriskpredictorsAnHphIpolymorphismintheE-selectingeneisassociatedwithprematurecoronaryarterydisease.ApoEgenepolymorphismisrelatedtocoronaryheartdisease.E23KpolymorphisminKCNJ11genehas

8、relationshipswithcoronaryheartdisease.Everygenevariant