title: Integrated late onset Alzheimer's disease (LOAD) susceptibility genes: Cholesterol metabolism and trafficking perspectives.
abstract: Late onset Alzheimer's disease (LOAD) is the most common type of dementia and is characterized by decreased amyloid-β (Aβ) clearance from the brain. Cholesterol regulates the production and clearance of Aβ. Genome-wide association study (GWAS) suggests that at least 20 genes are associated with LOAD. The genes APOE, CLU, SORL1, PICALM, and BIN1 have a relatively high LOAD susceptibility. Additional experimental and bioinformatic approaches to integrate data from genetics, epigenetics, and molecular networks may further increase our understanding of LOAD in relation to cholesterol metabolism and trafficking.
authors: Department of Biological Sciences, College of Natural Sciences, Pusan National University, Busan 46241, Republic of Korea; Department of Psychiatry, Hyungju Hospital, Yangsan-si, Gyeongsangnam-do, Republic of Korea.
authors: Hee Kim
authors: HK
authors: Dong
authors: Department of Biological Sciences, College of Natural Sciences, Pusan National University, Busan 46241, Republic of Korea; Genetic Engineering Institute, Pusan National University, Busan 46241, Republic of Korea.
authors: Jeong-An
authors: JA
authors: Gim
authors: Department of Neurology, Gyeongsangnam Provincial Yangsan Hospital for the Elderly, Yangsan-si, Gyeongsangnam-do, Republic of Korea.
authors: Seung Hyeon
authors: SH
authors: Yeo
authors: Department of Biological Sciences, College of Natural Sciences, Pusan National University, Busan 46241, Republic of Korea; Genetic Engineering Institute, Pusan National University, Busan 46241, Republic of Korea. Electronic address: khs307@pusan.ac.kr.
authors: Heui-Soo
authors: HS
authors: Kim
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics / Q000378:metabolism; D000544:Alzheimer Disease / Q000235:genetics* / Q000378:metabolism; D016229:Amyloid beta-Peptides / Q000378:metabolism; D001057:Apolipoproteins E / Q000235:genetics / Q000378:metabolism; D001692:Biological Transport / Q000235:genetics; D001921:Brain / Q000378:metabolism*; D002784:Cholesterol / Q000235:genetics* / Q000378:metabolism*; D051152:Clusterin / Q000235:genetics / Q000378:metabolism; D004843:Epistasis, Genetic; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D006801:Humans; D026502:LDL-Receptor Related Proteins / Q000235:genetics / Q000378:metabolism; D026901:Membrane Transport Proteins / Q000235:genetics / Q000378:metabolism; D034041:Monomeric Clathrin Assembly Proteins / Q000235:genetics / Q000378:metabolism; D009687:Nuclear Proteins / Q000235:genetics / Q000378:metabolism; D025941:Protein Interaction Mapping; D025521:Tumor Suppressor Proteins / Q000235:genetics / Q000378:metabolism
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D016229:Amyloid beta-Peptides; C000612345:ApoE protein, human; D001057:Apolipoproteins E; C101410:BIN1 protein, human; C495242:CLU protein, human; D051152:Clusterin; D026502:LDL-Receptor Related Proteins; D026901:Membrane Transport Proteins; D034041:Monomeric Clathrin Assembly Proteins; D009687:Nuclear Proteins; C439003:PICALM protein, human; C102582:SORL1 protein, human; D025521:Tumor Suppressor Proteins; D002784:Cholesterol
keywords: Alzheimer's disease; GWAS; LOAD; brain; cholesterol metabolism