载脂蛋白E(APOE)对有或没有基因突变的家族性阿尔茨海默病(FAD)的遗传风险影响,零星AD(SAD),正常对照(NC)在中国人群中仍不清楚。
总共,15119科目,包括311名没有PSEN1,PSEN2,APP的FAD患者,TREM2和SORL1致病性突变(FAD[未知]);126名具有PSENs/APP突变的FAD患者(FAD[PSENs/APP]);7234名SAD患者;和7448名NC入组。各组分析APOEε4的风险效应。
APOEε4基因型在FAD中的患病率(未知),FAD(PSEN/APP),SAD,NC组为56.27%,26.19%,36.23%,19.54%,分别。Further,APOEε4阳性基因型对FAD(未知)风险具有预测能力(比值比:4.51,95%置信区间:3.57-5.45,P<.001).
APOEε4阳性基因型可能导致家族聚集,以及针对APOE病理功能的多种干预措施的研究,以降低这种疾病的风险,值得关注。
The genetic risk effects of apolipoprotein E (APOE) on familial Alzheimer\'s disease (FAD) with or without gene mutations, sporadic AD (SAD), and normal controls (NC) remain unclear in the Chinese population.
In total, 15 119 subjects, including 311 FAD patients without PSEN1, PSEN2, APP, TREM2, and SORL1 pathogenic mutations (FAD [unknown]); 126 FAD patients with PSENs/APP mutations (FAD [PSENs/APP]); 7234 SAD patients; and 7448 NC were enrolled. The risk effects of APOE ε4 were analyzed across groups.
The prevalence of the APOE ε4 genotype in FAD (unknown), FAD (PSENs/APP), SAD, and NC groups was 56.27%, 26.19%, 36.23%, and 19.54%, respectively. Further, the APOE ε4 positive genotype had predictive power for FAD (unknown) risk (odds ratio: 4.51, 95% confidence interval: 3.57-5.45, P < .001).
APOE ε4 positive genotype may cause familial aggregation, and the investigation of multiple interventions targeting APOE pathological function to reduce the risk for this disease warrants attention.