Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University Medical Center, Department of Neurology, New York, NY 10032, USA.
Neurobiol Aging. 2013 Nov;34(11):2445-8. doi: 10.1016/j.neurobiolaging.2013.05.002. Epub 2013 Jun 4.
Research to understand variability at the highest end of the cognitive performance distribution has been scarce. Our aim was to define a cognitive endophenotype based on exceptional episodic memory (EM) performance and to investigate familial aggregation of EM in families from the Long Life Family Study (LLFS). Using a sample of 1911 nondemented offspring of long-lived probands, we created a quantitative phenotype, EM (memory z ≥ 1.5), and classified LLFS families as EM and non-EM families based on the number of EM offspring. We then assessed differences in memory performance between LLFS relatives in the parental generation of EM families and those in non-EM families using multivariate analysis adjusted for APOE Apolipoprotein E genotype. LLFS relatives in the proband generation from EM families showed better EM performance than those from non-EM families (β = 0.74, standard error = 0.19, p = 1.4 × 10(-4)). We demonstrated that there is a familial correlation of the EM endophenotype, suggesting that genetic variants might influence memory performance in long-lived families.
对认知表现分布最高端的可变性进行研究一直很少。我们的目的是基于卓越的情景记忆（EM）表现定义认知内表型，并调查来自长寿家族研究（LLFS）的家族中 EM 的家族聚集性。使用 1911 名无痴呆长寿被试的非裔后代样本，我们创建了一个定量表型 EM（记忆 z≥1.5），并根据 EM 后代的数量将 LLFS 家族分类为 EM 和非 EM 家族。然后，我们使用多变量分析调整 APOE 载脂蛋白 E 基因型，评估 EM 家族的父母代和非 EM 家族的 LLFS 亲属之间的记忆表现差异。来自 EM 家族的先证者代的 LLFS 亲属的 EM 表现优于来自非 EM 家族的亲属（β=0.74，标准误=0.19，p=1.4×10(-4)）。我们证明了 EM 内表型存在家族相关性，这表明遗传变异可能会影响长寿家族的记忆表现。
