补体c3基因rs7951位点多态性与重症肌无力的相关性研究

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1、7摘要目的探索补体C3基因rs7951位点多态性与重症肌无力(MG)的易感性和严重程度的相关性。方法纳入475例MG患者和487例健康对照组，采用SNPscanTM多重SNP分型技术对C3基因rs7951位点进行基因分型，比较等位基因和基因型频率在MG组及各亚组(性别、发病年龄、胸腺情况、首发受累范围以及最严重时的Osserman分型和Osterhuis评分)间的分布。结果rs7951位点检测到CC、CT、TT三种基因型，MG组T等位基因(118／950，12．4％)高于对照组(92／974，9．4％)，差异有统计学意义(P

2、=O．036，OR=I．360，95％CI1．019～1．815)。分别在共显性、隐性、显性和加性模型下分析MG组与对照组的基因型频率，发现基因型差异(与CC相比)在显性模型(P=0．044，OR=I．38，95％CI1．01～1．89)和加性模型(P=O．037，OR=I．36，95％CI1．02"-"1．82)下有统计学意义。等位基因和基因型在各亚组的分布频率，除了基因型在15---50岁MG亚组与对照组之间有统计学意义外，其他各MG亚组分布频率的差异无统计学意义。但该亚组的统计学意义经Logistic回归校正后消失。结

3、论补体C3基因rs7951T等位基因可能与MG易感性相关。关键词：重症肌无力；补体C3；rs7951；基因多态性。Ass。c；at；。nbebⅣeenc。mp。e啊nent3Geners7951P；i；黼ObjectiveToexploretheassociationbetweenComplement3Geners7951polymorphismMethodsThers7951polymorphismsweredeterminedbySNPscanTMtechnique．Thefrequenciesofgenotypesan

4、dalleleswerecomparedbetween475MGpatientsand487healthycontrols，aswellasamongsubgroupsofMGpatients．Subgroupsareclassifiedbygender,ageofonset，thymoma，involvementatonsetofMGOssermantypesandOsterhuisscoreatthemaximalseverityduringtheMGcourse．ResultsCC、CT、TTgenotypeswere

5、determinedinSNPrs7951．ThefrequencyofTalleleinMGgroup(118／950，12．4％)Wassignificantlyhigherthanthatinthecontrolgroup(92／974，9．4％)(P=O．036，OR-1．360，95％CI1．019～-1．815)．Thers7951genotypefrequencieswerecomparedundercodominant，recessive，dominantand109．additivemodel．Therew

6、eresignificantdifferenceinthefrequenciesbetweencaseandcontrolunderdominant(P=0．044，OR=I．38，95％CI1．01～1．89)andlog-additivemodel(P=0．037，OIPl．36，95％CI1．02～1．82)．ThereWasnosignificantdifferenceinthefrequenciesofallelesandgenotypesamongsubgroupsofMGpatients，exceptforth

7、esignificantdifferenceinthefrequencyofgenotypebetweenthe15-50yearsubgroupandthecontr01．ThedifferencelostitssignificanceafteradjustingforconfoundingfactorsbyLogisticregression．ConclusionTalleleofcomplement3geners7951maybeassociatedwiththesusceptibilityofmyastheniagr

8、avis．Keywords：myastheniagravis；Complement3；rs7951；genepolymorphisms．目录引言⋯⋯⋯⋯⋯⋯⋯⋯⋯⋯⋯⋯⋯⋯⋯⋯⋯⋯⋯⋯⋯⋯⋯⋯⋯⋯⋯⋯⋯⋯⋯⋯⋯⋯1第一章研究对象和研究方法⋯⋯⋯⋯⋯⋯⋯⋯⋯⋯⋯⋯⋯⋯⋯⋯⋯⋯⋯⋯⋯⋯⋯⋯．2