Department of Neurology, Boston University School of Public Health, Boston, MA, USA.
Am J Clin Nutr. 2010 May;91(5):1402-7. doi: 10.3945/ajcn.2009.28981. Epub 2010 Mar 10.
Genetic susceptibility testing for Alzheimer disease (AD) with APOE genotype disclosure is not recommended for clinical use but is available through direct-to-consumer (DTC) genetic testing companies. Little is known about whether APOE genotype disclosure would actually prompt changes in nutrition behaviors among at-risk individuals.
We studied the effect of APOE genotype disclosure for AD risk assessment on dietary supplement use in adults with a family history of AD.
As part of a secondary analysis of data from the second Risk Evaluation and Education for Alzheimer's Disease Study, we examined the effect of genotype disclosure on health-behavior changes among 272 unaffected first-degree relatives of persons with AD.
Overall, 16% of all participants reported a change in dietary supplement use after AD risk assessment. Participants who learned that they had at least one copy of the risk-increasing epsilon4 allele (epsilon4+) had 4.75 times the odds of reporting a change in dietary supplement use than did their counterparts who had an absence of the risk-increasing epsilon4 allele (epsilon4-) (95% CI: 2.23, 10.10; P < 0.0001) after adjustment for age, sex, race, baseline supplement use, randomization arm, and educational level. There were no significant differences between APOE epsilon4+ and epsilon4- participants in changes in overall diet, exercise, or medications.
In this sample of first-degree relatives receiving genetic susceptibility testing for AD, an APOE epsilon4+ genotype status was positively associated with dietary supplement use after risk disclosure. Such changes occurred despite the absence of evidence that supplement use reduces the risk of AD. Given the expansion of DTC genetic tests, this study highlights the need for future studies in disease risk communication.
阿尔茨海默病（AD）的遗传易感性检测，包括 APOE 基因型披露，不建议用于临床使用，但可通过直接面向消费者（DTC）的基因检测公司获得。目前对于 APOE 基因型披露是否会真正促使高危个体改变营养行为知之甚少。
我们研究了 AD 风险评估中 APOE 基因型披露对有 AD 家族史的成年人使用膳食补充剂的影响。
作为第二次风险评估和阿尔茨海默病教育研究数据的二次分析的一部分，我们检查了基因型披露对 272 名 AD 患者无血缘关系一级亲属健康行为变化的影响。
总体而言，所有参与者中有 16%报告 AD 风险评估后膳食补充剂使用发生了变化。与未携带风险增加的 epsilon4 等位基因（epsilon4-）的参与者相比，得知自己至少携带一个风险增加的 epsilon4 等位基因（epsilon4+）的参与者报告膳食补充剂使用发生变化的几率高 4.75 倍（95%CI：2.23，10.10；P < 0.0001），校正年龄、性别、种族、基线补充剂使用、随机分组和教育水平后。APOE epsilon4+和 epsilon4-参与者在总体饮食、运动或药物方面的变化没有显著差异。
在接受 AD 遗传易感性检测的一级亲属样本中，APOE epsilon4+基因型与风险披露后膳食补充剂使用呈正相关。尽管没有证据表明补充剂使用可以降低 AD 的风险，但仍发生了这种变化。鉴于 DTC 基因检测的扩展，本研究强调了未来在疾病风险沟通方面进行研究的必要性。
