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1、CD40-lCf多态性(rs)与粤西汉族人GraVeS病的关系陈晓铭胡卓清李潍刘美莲吴美芬方烁武革【摘要】目的探讨CD40基因单核甘酸多态性(rs)与粤西汉族人群GraVeS病的关系。方法选取Graves病患者219例(GraVeS病组)和健康体检人员200例(对照组)。收集相关资料，检测甲状腺激素(游离T3、游离T4)、促甲状腺激素(TSH)及促甲状腺激素受体抗体(TRAb)水平。应用聚合酹链反应限制性片段长度多态性(PCRRFLP)对样本基因分型。分析基因多态性与GraVeS病遗传易感性、家族史、眼病和预后的关系，及TRAb水平在不同基因型携带者之间的差异。结果(1)Graves病组等位基
2、因C分布频率高于对照组(56.8%vs.47.3%,2=7.722,P=0.005);共性及隐性遗传模型均显示GraVeS病组CC基因型高于对照组(38.4%vs.25.5%,%2=8.054共性=0.018次2=7.9121隐性=0.005)；相对于等位基因T携带者，CC基因型增加GraVeS病发病风险CCvs.TT：优势比(OR)=1.89,CCvs.CT：OR=1.77,CCvs.CT+TT：OR=1.83)0.05)。(3)在Graves病组中，C等位基因携带者TRAb水平较TT基因型者高(18.230.96)vs.(12.651.68)IUL,F=4.576,P=0.002o结论CD
3、40-1C/T多态性(rs)可能与粤西汉族人群GraVeS病及TRAb水平相关，与甲状腺眼病、家族史及预后无关。【关键词】GmVeS病；CD40；基因多态性DOI：10.3760cma.j.issn.l6734157.2015.01.003基金项目:广东省社会发展领域科技计划项目(2012B)；广东省医学科研基金立项课题(A)；湛江市非资助科技攻关计划项目(2013B01030)作者单位：524001湛江，广东医学院附属医院内分泌科通信作者：武革，Email:RelationshipbetweenCD401CTpolymorphism(rs)andGraves*diseaseofHanpopu
4、lationinwesternregionofGuangdongprovinceChenXiaoming,HuZhuoqing,LiWei,LiuMeilian,WuMeifen,FangShuo,WuGe.DepartmentofEndocrinology,AffiIiatedHospitalofGuangdongMedicalCollege,Zhanjiang524001,ChinaCorrespondingauthor:WuGe,Email:【AbstractObjectiveToinvestigatetheassociationbetweenthesinglenucleotidepol
5、ymorphism(SNP,rs)ofCD40geneandGraves,disease(GD)ofHanpopulationinwesternGuangdong.MethodsAsetofsubjectsincluding219patientswithGD(GDgroup)and200healthycontrols(controlgroup)wereedinformationswerecollected,andlevelsofthyroidhormones(freeT3,freeT4),thyroidstimulatinghormone(TSH)andthyrotropinreceptora
6、ntibodies(TRAb)weretested.SNPsweregenotypedbythemethodofpolymerasechainreactionrestrictionfragmentlengthpolymorphism(PCR-RFLP).TheassociationbetweenpolymorphismandthesusceptibilityofGD,familyhistory,ophthalmopathyandprognosisofGDwerehile,thelevelsofTRAbamongdifferentgenotypeswerecompared.Results(1)H
7、igheralleleCfrequencywasobservedinGDgroupthancontrolgroup(56.8%vs.47.3%,2=7.722,P=0.005).Comparcdwithcontrolgroup,additiveandrecessivegeneticmodelsshowedthefrequencyofCCgenotypewerehigherinGDgroup(38.4%vs.25.5%,2=8.054,PAdditive=O,018;%2=7.912,PRessive=0.005).ComparedwithpatientscarriedalleleT,GDris
8、koftheindividualswhocarriedCCgenotypewassignificantlyincreasedCCvs.TToddratio(OR)=1.89,CCvs.CT:OR=1.77,CCvs.CT+TT:OR=L83.(2)TherewasnosignificantdifferenceinalleleorgenotypefrequencyofCD40SNPbetweenpatientswithandwithoutGDfamilyhistory,withandwithoutophthalmopathy,GDonsetandrelapsesubgroup(allP0.05)
9、.(3)InGDgroup,thelevelsofTRAbweresignificanthigherinthosewithCCorCTgenotypethanothergenotype(18.230.96)vs.(12.651.68)UL,F=4.576,P=0.002.ConclusionCD40-1C/Tpolymorphism(rs)isassociatedwithGDandTRAblevelofHanpopulationinwesternGuangdong.NocorrelationisfoundbetweenCD4O-1CTpolymorphismandophthalmopathy,
10、familyhistoryandprognosisofGD.KeywordsGraves*disease;CD40;Genepolymorphisms参考文献lBrixTH,KyvikKO,ChristensenK,etal.EvidenceforamajorroleofheredityinGraVeSdiseasespopulationbasedstudyoftwoDanishtwincohortsJ.JClinEndocrinolMetab,2001,86(2):930-934.2BalazsC.Theroleofhereditaryandenvironmentfactorsinautoi
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