Chung Sun Ju, Kim Mi-Jung, Kim Juyeon, Kim Young Jin, You Sooyeoun, Koh Jaeyoung, Kim Seong Yoon, Lee Jae-Hong
Department of Neurology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, South Korea.
Department of Neurology, Bobath Memorial Hospital, Seongnam, South Korea.
Neurobiol Aging. 2014 Aug;35(8):1958.e13-4. doi: 10.1016/j.neurobiolaging.2014.03.007. Epub 2014 Mar 11.
Genetic variants so far identified explain a small fraction of the overall inherited risk of Alzheimer's disease (AD). We aimed to identify novel genetic variants in AD using exome array that contains comprehensive panel. We genotyped 295,988 variants in 1005 subjects (400 AD cases and 605 controls) using Axiom Exome Genotyping Array that contains a pool of variants discovered in over 16 major human exome sequencing initiatives. Logistic regression analysis and the sequence kernel association optimal test were performed. The APOE, APOC1, and TOMM40 showed significant associations with AD in the single variant analysis. However, no significant association of other variants with AD was observed. This exome array study failed to identify novel genetic variants in AD.
迄今为止所识别出的基因变异仅解释了阿尔茨海默病（AD）总体遗传风险的一小部分。我们旨在利用包含综合面板的外显子阵列来识别AD中的新型基因变异。我们使用Axiom外显子基因分型阵列对1005名受试者（400例AD病例和605名对照）中的295,988个变异进行了基因分型，该阵列包含在超过16项主要人类外显子测序计划中发现的一组变异。进行了逻辑回归分析和序列核关联最优检验。在单变异分析中，载脂蛋白E（APOE）、载脂蛋白C1（APOC1）和转位酶线粒体40（TOMM40）与AD显示出显著关联。然而，未观察到其他变异与AD有显著关联。这项外显子阵列研究未能识别出AD中的新型基因变异。
