Exome array study did not identify novel variants in Alzheimer's disease

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• 作者：Sun Ju Chung^a ; ^{sjchung@amc.seoul.kr" class="auth_mail} ; ^{sunjubrain@gmail.com" class="auth_mail} ; Mi-Jung Kim^b ; Juyeon Kim^a ; Young Jin Kim^a ; Sooyeoun You^c ; Jaeyoung Koh^a ; Seong Yoon Kim^d ; Jae-Hong Lee^a
• 关键词：Alzheimer's disease ; Exome array ; APOE ; APOC1 ; TOMM40
• 刊名：Neurobiology of Aging
• 出版年：August 2014
• 年：2014
• 卷：35
• 期：8
• 页码：1958.e13-1958.e14
• 全文大小：165 K

文摘

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.