Disclosure of APOE Genotype for Risk of Alzheimer's Disease
Disclosure of APOE Genotype for Risk of Alzheimer's Disease
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DOI：
10.1056/nejmoa0809578
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发表时间：
2009-07-16
影响因子：
158.5
通讯作者：
Farrer, Lindsay A.
中科院分区：
文献类型：
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作者：
Green, Robert C.;Roberts, J. Scott;Farrer, Lindsay A.
背景载脂蛋白E（APOE）基因型提供了阿尔茨海默病风险的信息，但对患者及其家庭成员的基因分型一直受到阻碍。我们研究了基因型披露的影响，在一个前瞻性的，随机的，controlled trial.MethodsWe随机分配162无症状的成年人谁有一个与阿尔茨海默氏病的父母接受自己的APOE基因分型（披露组）的结果或不接受这样的结果（nondisclosure group）。我们测量了焦虑、抑郁和考试相关苦恼的症状，分别在公开或不公开后6周、6个月和1年。（4.5在披露组和4.4在非披露组，P = 0.84），抑郁症（分别为8.8和8.7; P = 0.98），或测试相关的痛苦（分别为6.9和7.5; P = 0.61）。对携带APOE β 4等位基因（与风险增加相关）的未披露组和披露亚组进行二次比较，也没有发现显著差异。然而，与β 4阳性亚组相比，β 4阴性亚组的测试相关性痛苦水平显著降低（P = 0.01）。心理结果发生有临床意义的变化的受试者均匀分布在不公开组和NH 4阳性和NH 4阴性亚组中。焦虑和抑郁的基线评分与这些测量的公开后评分密切相关（P
BackgroundThe apolipoprotein E (APOE) genotype provides information on the risk of Alzheimer's disease, but the genotyping of patients and their family members has been discouraged. We examined the effect of genotype disclosure in a prospective, randomized, controlled trial.MethodsWe randomly assigned 162 asymptomatic adults who had a parent with Alzheimer's disease to receive the results of their own APOE genotyping (disclosure group) or not to receive such results (nondisclosure group). We measured symptoms of anxiety, depression, and test-related distress 6 weeks, 6 months, and 1 year after disclosure or nondisclosure.ResultsThere were no significant differences between the two groups in changes in time-averaged measures of anxiety (4.5 in the disclosure group and 4.4 in the nondisclosure group, P = 0.84), depression (8.8 and 8.7, respectively; P = 0.98), or test-related distress (6.9 and 7.5, respectively; P = 0.61). Secondary comparisons between the nondisclosure group and a disclosure subgroup of subjects carrying the APOE epsilon 4 allele (which is associated with increased risk) also revealed no significant differences. However, the epsilon 4-negative subgroup had a significantly lower level of test-related distress than did the epsilon 4-positive subgroup (P = 0.01). Subjects with clinically meaningful changes in psychological outcomes were distributed evenly among the nondisclosure group and the epsilon 4-positive and epsilon 4-negative subgroups. Baseline scores for anxiety and depression were strongly associated with post-disclosure scores of these measures (P