Exome array study did not identify novel variants in Alzheimer's disease |
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| Authors: | Sun Ju Chung Mi-Jung Kim Juyeon Kim Young Jin Kim Sooyeoun You Jaeyoung Koh Seong Yoon Kim Jae-Hong Lee |
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| Affiliation: | 1. Department of Neurology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, South Korea;2. Department of Neurology, Bobath Memorial Hospital, Seongnam, South Korea;3. Department of Neurology, Dongsan Medical Center, Keimyung University, Daegu, South Korea;4. Department of Psychiatry, Asan Medical Center, University of Ulsan College of Medicine, Seoul, South Korea |
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| Abstract: | 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. |
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| Keywords: | Alzheimer's disease Exome array APOE APOC1 TOMM40 |
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