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ID:34508141
大小:280.54 KB
页数:4页
时间:2019-03-07
《嵌合蛋白1基因启动子两多态位点与阿尔茨海默病的相关性研究》由会员上传分享,免费在线阅读,更多相关内容在教育资源-天天文库。
1、中国神经精神疾病杂志l0午箜鱼鲞笙塑193·论著·嵌合蛋白1基因启动子两多态位点与阿尔茨海默病的相关性研究钟望涛赵斌吴志红陈煜森山县英玖三木哲郎【摘要】目的探讨嵌合蛋白1(chimerin1,CHN1)基因启动子区多态性、载脂蛋白E(apolipoprotein,APOE)基多态性和阿尔茨海默病(Alzheimer’sdisease,AD)的相关性。方法通过使用TaqMan—PCR法检测单核苷酸多态性方法,观察380例日本AD患者(包括327例迟发型AD与53例早发型AD)和380例非痴呆对照组CHNI基凶启动子(rs3732315与rsl320875)及APOE基因的多态性分布,并分析
2、与AD的相关性。结果CHN1基因启动子rs3732315上A/T多态位点与rsl320875上A/G多态位点分别与AD无明显相关性(P值分别为0.094,0.17)。进一步在LOAD,EOAD与对照组的比较中发现rs37323l5AA基因型与rsl320875GG基因型与EOAD无明显相关(P值分别为0.055,0.065)。结论CHN1基因启动子区rs3732315与rsl320875多态位点与AD无明显相关性,但不能排除rs3732315AA基因型与rs1320875GG基冈型微弱增加了EOAD的发病风险,其真正意义有待在大样本、多中心人群中进一步阐明。【关键词】阿尔茨海默病CHN1
3、基因多态性载脂蛋白E风险子【中图分类号】R749.16【文献标识码】AAssociationofchimerin1(CHN1)genepromoterpolymorphismswithAlzheimer’Sdisease.ZHONGWangtao,ZHAOBin,WUZhihong,CHENYusen,YamagataHidehisaD,MikiTetsuro.TheAffiliatedHospitalofGuangdongMedicalCollege,Zhanjiang524001,China.Tel:0759-2387322.‘【Abstract】ObjectiveToinvesti
4、gatetheassociationofchimerinl(CHNI)genepromoterandAPOEpolymor—phismswithAlzheinmr’sdisease(AD).MethodsUsingthesinglenucleotidepolymorphism(SNP)andTaqMan—PCRmethodthepolymovphismsofCHNIgeneinpromoter(rs3732315andrs1320875)andAPOEwereanalyzedin380AD(including327late—onsetADcasesand53early—onsetADca
5、ses)and380controlswithoutdementiainaJapanesepopula—ti0n.ResultsTherewerenosignificantassociationbetweentwopolymorphisms(rs3732315A/Tandrsl320875A/G)andAD(Pvalueswere0.094,0.17,respectively),theAAgenotype(rs3732315)andGGgenotype(rsl320875)weresig—nificantlydiferentbetweenEOADeasesandcontrols(Pvalu
6、eswere0.055,0.065,respectively).ConclusionsThepoly—morphismsinDromoterofCHN1werenotsignificantlyassociatedwithADrisks.HoweveraweakassociationbetweenCHNI(AAgenotypeofrs3732315andGGgenotypeofrs1320875)andEOADcannotbeexcluded.Furtherinvestigationoftheassociationinalargersamplefrommultiplecentersisre
7、quired.【Keywords】Alzheimer’SdiseaseChimerinlPolymorphishaApolipoproteinERiskfactor阿尔茨海默病(Alzheimer’Sdisease,AD)是一病ease,LOAD)相关,但仍有大约一半的LOAD遗传相因复杂的进展性神经变性疾病。目前的分子遗传学研关基冈未明。免疫组化研究表明,嵌合蛋白1(chim—究表明:APP(amyloidprecursorpro
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