Chao Serena, Roberts J Scott, Marteau Theresa M, Silliman Rebecca, Cupples L Adrienne, Green Robert C
Department of Medicine (Geriatrics Section) Boston University School of Medicine, Boston, MA 02118, USA.
Alzheimer Dis Assoc Disord. 2008 Jan-Mar;22(1):94-7. doi: 10.1097/WAD.0b013e31815a9dcc.
Risk information for Alzheimer disease (AD) may be communicated through susceptibility gene disclosure, even though this is not currently in clinical use. The REVEAL Study is the first randomized clinical trial of risk assessment for AD with apolipoprotein E (APOE) genotype and numerical risk estimate disclosure. We examined whether APOE genotype and numerical risk disclosure to asymptomatic individuals at high risk for AD alters health behaviors. One hundred sixty-two participants were randomized to either intervention (APOE disclosure) or control (no genotype disclosure) groups. Subjects in both groups received numerical lifetime risk estimates of future AD development based on sex and family history of AD. The intervention group received their APOE genotype. Subjects were informed that no proven preventive measures for AD existed and given an information sheet on preventative therapies under investigation. Participants who learned they were epsilon 4 positive were significantly more likely than epsilon 4 negative participants to report AD-specific health behavior change 1 year after disclosure (adjusted odds ratio: 2.73; 95% confidence interval: 1.14, 6.54; P=0.02). Post hoc analyses revealed similar significant associations between numerical lifetime risk estimates and self-report of AD-specific health behavior change. Despite lack of preventive measures for AD, knowledge of APOE genotype, numerical lifetime risk, or both, influences health behavior.
阿尔茨海默病(AD)的风险信息或许可通过易感基因披露来传达,即便目前其尚未应用于临床。REVEAL研究是第一项针对携带载脂蛋白E(APOE)基因型及数值风险评估披露的AD风险评估随机临床试验。我们研究了向AD高危无症状个体披露APOE基因型及数值风险是否会改变其健康行为。162名参与者被随机分为干预组(披露APOE)或对照组(不披露基因型)。两组受试者均基于性别及AD家族史获得了未来患AD的终生数值风险估计。干预组还被告知其APOE基因型。受试者被告知尚无已证实的AD预防措施,并收到一份关于正在研究的预防疗法的信息表。得知自己ε4呈阳性的参与者在披露后1年报告AD特异性健康行为改变的可能性显著高于ε4呈阴性的参与者(校正比值比:2.73;95%置信区间:1.14,6.54;P=0.02)。事后分析显示,终生数值风险估计与AD特异性健康行为改变的自我报告之间也存在类似的显著关联。尽管缺乏AD预防措施,但对APOE基因型、终生数值风险或两者的了解会影响健康行为。