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

• DOI: 10.1016/j.neurobiolaging.2014.03.007
• Publication Date: 2014-03-13T22:01:02Z
• Authors: Sun Ju Chung; Mi-Jung Kim; Juyeon Kim; Young Jin Kim; Sooyeoun You; Jaeyoung Koh; Seong Yoon Kim; Jae-Hong Lee
• Keywords: Male; APOC1; Genotyping Techniques; TOMM40; 03 medical and health sciences; Apolipoproteins E; 0302 clinical medicine; Alzheimer Disease; Mitochondrial Precursor Protein Import Complex Proteins; Humans; Exome; Genetic Predisposition to Disease; Genetic Association Studies; Aged; Oligonucleotide Array Sequence Analysis; Aged, 80 and over; Apolipoprotein C-I; Genetic Variation; Membrane Transport Proteins; Middle Aged; 3. Good health; Logistic Models; Exome array; Female; Alzheimer’s disease; APOE

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.