资源描述：
《晚发型阿尔茨海默病的发病风险.docx》由会员上传分享，免费在线阅读，更多相关内容在工程资料-天天文库。
1、SLC26A4genepolymorphismandlate-onsetAlzheimer’sdiseaseinaHanChinesepopulationfromQingdao,China全文: PDF (167KB) 输出: BibTeX
2、 EndNote (RIS)摘要 近期一项大规模的全基因关联研究发现SLC26A4基因rs2072064多态性位点与高加索人群晚发型阿尔茨海默病的发病风险有关。实验选取599例中国青岛汉族晚发型阿尔茨海默病患者和598例年龄和性别相匹配的健康对照，利用PCR-连接酶技术检测发现晚发
3、型阿尔茨海默病患者SLC26A4基因rs2072064多态性位点的基因频率和等位基因频率出现明显异常，其中等位基因型A显著降低晚发型阿尔茨海默病的发病风险。但是经晚发型阿尔茨海默病易感性基因载脂蛋白Eε4分层后，仅在非携带载脂蛋白Eε4基因晚发型阿尔茨海默病患者和健康对照者SLC26A4基因型和等位基因型频率存在差异。Logistic回归分析发现，在校正性别，年龄和载脂蛋白Eε4携带状态等因素后，该位点仍与晚发型阿尔茨海默病的发病风险显著相关。说明SLC26A4基因为中国北方汉族青岛地区人群晚发型阿尔茨海默病的易感基因。关
4、键词： 神经再生； 神经退行性变； 晚发型阿尔茨海默病； SLC26A4基因； rs2072064多态性位点； 多态性； 基因关联； 汉族； 载脂蛋白E； Abstract:Inarecentgenome-wideassociationstudy,theSLC26A4geners2072064polymorphismwasfoundtobeassociatedwithlate-onsetAlzheimer’sdiseaseinCaucasians.Here,weinvestigatedthisassociationina
5、largeNorthernHanChinesecohortconsistingof599sporadiclate-onsetAlzheimer’sdiseasepatientsand598healthycontrolsmatchedforsexandageinaNorthernHanChinesepopulationfromQingdao,China.Genotypingbythepolymerasechainreaction-ligasedetectionreactionrevealedthatthereweresign
6、ificantdifferencesinthegenotype(P =0.017)andallele(P =0.007)frequenciesofthers2072064polymorphismbetweenlate-onsetAlzheimer’sdiseasepatientsandcontrols.TheAalleleofthispolymorphismwassignificantlyassociatedwithareducedriskoflate-onsetAlzheimer’sdisease(oddsratio(O
7、R)=0.792,95%confidenceinterval(CI)=0.670–0.937, P =0.007).WhenthedatawerestratifiedbytheapolipoproteinEε4status,therewasasignificantdifferenceonlyamongapolipoproteinEε4non-carriers(genotypicP=0.001,allelic P =0.001).Furthermore,theassociationbetweenrs2072064andlat
8、e-onsetAlzheimer’sdiseaseremainedsignificantbylogisticregressionanalysisafteradjustmentforage,gender,andtheapolipoproteinEε4carrierstatus(dominantmodel: OR =0.787,95% CI =0.619–1.000, P =0.050;recessivemodel:OR=0.655,95% CI =0.448–0.959, P =0.030;additivemodel: OR
9、 =0.792,95% CI =0.661–0.950, P =0.012).ThesefindingssuggestthatSLC26A4isasusceptibilitygeneforlate-onsetAlzheimer’sdiseaseinaNorthernHanChinesepopulatio
