在线招募登记处（荷兰脑研究登记处）研究志愿者中远程 APOE 基因分型的可行性和可接受性。
Feasibility and acceptability of remote APOE-genotyping among research volunteers of an online recruitment registry (The Dutch Brain Research Registry).
作者信息
Waterink L, van der Lee S J, Nijland D, van der Zee F I, Visser L N C, Pijnenburg Y A L, Sikkes S A M, van der Flier W M, Zwan M D
机构信息
Alzheimer Center Amsterdam, Neurology, Vrije Universiteit Amsterdam, Amsterdam UMC location VUmc, Amsterdam, the Netherlands; Amsterdam Neuroscience, Neurodegeneration, Amsterdam, the Netherlands.
Alzheimer Center Amsterdam, Neurology, Vrije Universiteit Amsterdam, Amsterdam UMC location VUmc, Amsterdam, the Netherlands; Amsterdam Neuroscience, Neurodegeneration, Amsterdam, the Netherlands; Genomics of Neurodegenerative Diseases and Aging, Human Genetics, Vrije Universiteit Amsterdam, Amsterdam UMC location VUmc, Amsterdam, the Netherlands.
出版信息
J Prev Alzheimers Dis. 2025 May;12(5):100099. doi: 10.1016/j.tjpad.2025.100099. Epub 2025 Feb 24.
BACKGROUND
Participant recruitment for preclinical Alzheimer's disease (AD) prevention studies is challenging. Online registries facilitate large scale prescreening of individuals at risk for AD to accelerate recruitment. APOE-prescreening has the potential to better identify at-risk individuals. This study investigated the feasibility and acceptability of at-home APOE-genotyping in cognitively-normal registrants of an online registry.
METHODS
We invited 9,287 cognitively-normal registrants of Dutch Brain Research Registry (DBRR) aged 50 to 75 for at-home APOE-genotype testing, without receiving the results. Feasibility was measured by participation ratio (participation/interested), swab-return ratio (returned-swabs/participation), and genotyping-success ratio (analyzed swabs/returned swabs). Acceptability was measured with online questions about information provision and project scope. We explored prescreening questions potentially reducing screen-failures.
RESULTS
Feasibility was high with an 0.89 participation ratio (2,886/3,251), 0.90 swab-return ratio (2,886/2,597), 0.99 genotyping-success ratio (2,558/2,597). Acceptability was high, as participants were content with the information provision (87 %-97 %, n= 1,709-1,894), which was also well understood (91 %-93 %, n = 1,772-1,802). Among successful-analyzed swabs (n = 2,558), 27 % participants were APOE-ε4 heterozygote (n = 703), and 2 % homozygote (n = 60). Prescreening on a positive family history leads to a third reduction in the number of invitations needed to identify one APOE-ε4 carrier.
CONCLUSION
Our results suggest that APOE-ɛ4 genotyping in participants of an online research registry is feasible, well received and could be used to prescreen individuals at risk for AD for prevention studies. Adding a positive family history before invitation for APOE-genotyping, would further improve the prescreening process and reduce screen failures when identifying carriers.
背景
临床前阿尔茨海默病（AD）预防研究的参与者招募具有挑战性。在线登记处有助于对有AD风险的个体进行大规模预筛查，以加速招募。载脂蛋白E（APOE）预筛查有可能更好地识别有风险的个体。本研究调查了在线登记处认知正常的登记者在家中进行APOE基因分型的可行性和可接受性。
方法
我们邀请了9287名年龄在50至75岁之间、认知正常的荷兰脑研究登记处（DBRR）登记者进行在家中APOE基因分型检测，但不告知检测结果。通过参与率（参与人数/感兴趣人数）、拭子返还率（返还拭子数/参与人数）和基因分型成功率（分析的拭子数/返还的拭子数）来衡量可行性。通过关于信息提供和项目范围的在线问题来衡量可接受性。我们探索了可能减少筛查失败的预筛查问题。
结果
可行性较高，参与率为0.89（2886/3251），拭子返还率为0.90（2886/2597），基因分型成功率为0.99（2558/2597）。可接受性较高，因为参与者对信息提供感到满意（87%-97%，n=1709-1894），并且对信息也理解得很好（91%-93%，n=1772-1802）。在成功分析的拭子中（n=2558），27%的参与者为APOE-ε4杂合子（n=703），2%为纯合子（n=60）。对阳性家族史进行预筛查可使识别一名APOE-ε4携带者所需的邀请数量减少三分之一。
结论
我们的结果表明，在线研究登记处的参与者进行APOE-ɛ4基因分型是可行的，且受到好评，可用于对有AD风险的个体进行预筛查以开展预防研究。在邀请进行APOE基因分型之前增加阳性家族史，将进一步改善预筛查过程，并减少识别携带者时的筛查失败情况。
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