title: Exome array study did not identify novel variants in Alzheimer's disease.
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.
authors.affiliation: Department of Neurology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, South Korea. Electronic address: sjchung@amc.seoul.kr.
authors.forename: Sun Ju
authors.initials: SJ
authors.lastname: Chung
authors.affiliation: Department of Neurology, Bobath Memorial Hospital, Seongnam, South Korea.
authors.forename: Mi-Jung
authors.initials: MJ
authors.lastname: Kim
authors.affiliation: Department of Neurology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, South Korea.
authors.forename: Juyeon
authors.initials: J
authors.lastname: Kim
authors.affiliation: Department of Neurology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, South Korea.
authors.forename: Young Jin
authors.initials: YJ
authors.lastname: Kim
authors.affiliation: Department of Neurology, Dongsan Medical Center, Keimyung University, Daegu, South Korea.
authors.forename: Sooyeoun
authors.initials: S
authors.lastname: You
authors.affiliation: Department of Neurology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, South Korea.
authors.forename: Jaeyoung
authors.initials: J
authors.lastname: Koh
authors.affiliation: Department of Psychiatry, Asan Medical Center, University of Ulsan College of Medicine, Seoul, South Korea.
authors.forename: Seong Yoon
authors.initials: SY
authors.lastname: Kim
authors.affiliation: Department of Neurology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, South Korea.
authors.forename: Jae-Hong
authors.initials: JH
authors.lastname: Lee
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D000544:Alzheimer Disease / Q000235:genetics*; D053302:Apolipoprotein C-I / Q000235:genetics; D001057:Apolipoproteins E / Q000235:genetics; D059472:Exome / Q000235:genetics*; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation / Q000235:genetics*; D060005:Genotyping Techniques / Q000379:methods*; D006801:Humans; D016015:Logistic Models; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics; D008875:Middle Aged; D000090622:Mitochondrial Precursor Protein Import Complex Proteins; D020411:Oligonucleotide Array Sequence Analysis / Q000379:methods*
chemical_list: C505803:APOC1 protein, human; D053302:Apolipoprotein C-I; D001057:Apolipoproteins E; D026901:Membrane Transport Proteins; D000090622:Mitochondrial Precursor Protein Import Complex Proteins; C400783:TOMM40 protein, human
keywords: APOC1; APOE; Alzheimer's disease; Exome array; TOMM40