CAJ | 학술논문

目的探讨分拣蛋白受体1(SORL1)基因多态性与散发性阿尔茨海默病(SAD)的相关性.方法采用病例对照研究方法,选取179例SAD患者和106例正常健康对照,利用连接酶检测-聚合酶链反应(LDR-PCR)方法对5个候选SORL1基因多态位点rs985421、rs12364988、rs4598682、rs3781834和rs3781836进行基因分型,比较不同等位基因及基因型与SAD发病风险的关系.结果 SORL1基因SNPrs985421等位基因A的频率在SAD组与正常对照组之间存在显著差异(趋势检验:P=0.0044,Padj=0.022;等位基因:P=0.0023,Padj=0.012).分层分析发现,在APOEε4等位基因非携带者中,SAD组中SORL1SNP rs985421等位基因A的频率显著高于正常对照组(OR=2.260,95％ CI=1.269～4.024,P=0.0048).此外,logistic回归分析结果进一步揭示SORL1基因rs985421等位基因A与SAD患病风险显著相关(OR=1.968,95％ CI=1.273～3.042,Padj=0.002).然而,在其他四个SNPs中并没有观察到任何阳性关联信号.结论 SORL1基因SNP rs985421等位基因A可能与中国人群AD发病有关,并且是非APOE ε4依赖型的独立风险等位.
목적 탐토분간단백수체1(SORL1)기인다태성여산발성아이자해묵병(SAD)적상관성.방법 채용병례대조연구방법,선취179례SAD환자화106례정상건강대조,이용련접매검측-취합매련반응(LDR-PCR)방법대5개후선SORL1기인다태위점rs985421、rs12364988、rs4598682、rs3781834화rs3781836진행기인분형,비교불동등위기인급기인형여SAD발병풍험적관계.결과 SORL1기인SNPrs985421등위기인A적빈솔재SAD조여정상대조조지간존재현저차이(추세검험:P=0.0044,Padj=0.022;등위기인:P=0.0023,Padj=0.012).분층분석발현,재APOEε4등위기인비휴대자중,SAD조중SORL1SNP rs985421등위기인A적빈솔현저고우정상대조조(OR=2.260,95％ CI=1.269～4.024,P=0.0048).차외,logistic회귀분석결과진일보게시SORL1기인rs985421등위기인A여SAD환병풍험현저상관(OR=1.968,95％ CI=1.273～3.042,Padj=0.002).연이,재기타사개SNPs중병몰유관찰도임하양성관련신호.결론 SORL1기인SNP rs985421등위기인A가능여중국인군AD발병유관,병차시비APOE ε4의뢰형적독립풍험등위.
Objective To explore the association between the sortilin-related receptor,L (DLR class) A repeats containing (SORL1) gene single nucleotide polymorphisms (SNPs) and sporadic Alzheimer's disease (SAD) in Han Chinese populations.Methods Five candicate SNPs,including rs985421,rs12364988,rs4598682,rs3781834,and rs3781836,within the SORL1 gene were genotyped by LDR-PCR methods,and the association of these SNPs with SAD risk were also analyzed in a case-control study with 179 SAD and 106 healthy controls.Results The results indicated that the A allele frequency of the SORL1 SNP rs985421 was significant difference between SAD and healthy controls (Trend test:P =0.0044,P adj =0.022; Allelic:P=0.0023,P adj =0.012).In subjects without APOE s4 allele,higher frequency of the A allele of rs985421 was observed in SAD patients compared with control subjects by the stratified analysis (OR=2.260,95％ CI =1.269-4.024,P=0.0048).In addition,logistic regression analysis further revealed that the A allele of SORL1 SNP rs985421 was significantly associated with SAD risk (OR=1.968,95％ CI =1.273-3.042,P=0.002).However,no positive signals in other four SNPs within the SORL1 gene were observed (all P＞ 0.05).Conclusions The A allele of SORL1 SNP rs985421 may be an APOE ε4-independent factor associated with SAD risk.