CAJ | 학술논문

目的通过对阿尔茨海默病(AD)患者分拣蛋白相关受体1 (SORL1)基因位点进行多态性检测,探讨该基因多态性与AD的关系. 方法采用单碱基多位点微测序法(SnaPshot),根据文献命名选取SNP10、19、23、24、25、27位点检测,比较AD组(33例)和对照组(51例)的基因型和等位基因频率的分布. 结果 SNPs19,23,24,25基因型两组间分布差异有统计学意义,SNP19 TT基因型为保护基因型(OR＝0.089,95％CI:0.011～0.718,P＜0.01);SNP23 AT基因型(OR＝3.826,95％CI:1.388～10.544,P＜0.01)、SNP24 CT基因型(OR=5.935,95％CI:1.774～19.853,P＜0.01)和SNP25 CT基因型(OR=5.754,95％CI:2.007～16.496,P＜0.01)与AD患病相关.结论 SORL1基因的SNPs19,23,24,25 4个位点的多态性与AD患病存在关联,可能增加散发性AD的患病风险.
목적 통과대아이자해묵병(AD)환자분간단백상관수체1 (SORL1)기인위점진행다태성검측,탐토해기인다태성여AD적관계. 방법 채용단감기다위점미측서법(SnaPshot),근거문헌명명선취SNP10、19、23、24、25、27위점검측,비교AD조(33례)화대조조(51례)적기인형화등위기인빈솔적분포. 결과 SNPs19,23,24,25기인형량조간분포차이유통계학의의,SNP19 TT기인형위보호기인형(OR＝0.089,95％CI:0.011～0.718,P＜0.01);SNP23 AT기인형(OR＝3.826,95％CI:1.388～10.544,P＜0.01)、SNP24 CT기인형(OR=5.935,95％CI:1.774～19.853,P＜0.01)화SNP25 CT기인형(OR=5.754,95％CI:2.007～16.496,P＜0.01)여AD환병상관.결론 SORL1기인적SNPs19,23,24,25 4개위점적다태성여AD환병존재관련,가능증가산발성AD적환병풍험.
Objective To investigate the association between gene polymorphism of sortilinrelated receptor 1 (SORL1) and Alzheimer' s disease by detecting a series of single nucleotide polymorphisms (SNPs).Methods The Snapshot method was used to genotypc 6 SNPs (SNP10,19,23,24,25,27) in SORL1 and the distributions of allele and genotype of the 6 SNPs were compared between AD patients and healthy control individuals.Results There were significant differences in the genotype distributions of SNP19,23,24 and 25 between AD patients and control group (all P＜0.01).Subjects with TT genotype in SNP19 had significantly lower risk for AD and was protective for AD (OR=0.089,95％CI:0.011-0.718,P＜0.01).The AT genotype in SNP23 (OR＝3.826,95％CI:1.388～10.544,P＜0.01),CT genotype in SNP24(OR=5.935,95％CI:1.774-19.853,P＜0.01)and CT genotype in SNP25(OR=5.754,95％CI:2.007-16.496,P＜0.01)had higher risks for AD.Conclusions SORL1 gene variants of SNP19,23,24 and 25 might be the important risk factors for late-onset AD.