title: The genetics of Alzheimer's disease.
abstract: Alzheimer's disease (AD) is a complex and heterogeneous neurodegenerative disorder, classified as either early onset (under 65 years of age), or late onset (over 65 years of age). Three main genes are involved in early onset AD: amyloid precursor protein (APP), presenilin 1 (PSEN1), and presenilin 2 (PSEN2). The apolipoprotein E (APOE) E4 allele has been found to be a main risk factor for late-onset Alzheimer's disease. Additionally, genome-wide association studies (GWASs) have identified several genes that might be potential risk factors for AD, including clusterin (CLU), complement receptor 1 (CR1), phosphatidylinositol binding clathrin assembly protein (PICALM), and sortilin-related receptor (SORL1). Recent studies have discovered additional novel genes that might be involved in late-onset AD, such as triggering receptor expressed on myeloid cells 2 (TREM2) and cluster of differentiation 33 (CD33). Identification of new AD-related genes is important for better understanding of the pathomechanisms leading to neurodegeneration. Since the differential diagnoses of neurodegenerative disorders are difficult, especially in the early stages, genetic testing is essential for diagnostic processes. Next-generation sequencing studies have been successfully used for detecting mutations, monitoring the epigenetic changes, and analyzing transcriptomes. These studies may be a promising approach toward understanding the complete genetic mechanisms of diverse genetic disorders such as AD.
authors.affiliation: Department of BioNano Technology Gachon University, Gyeonggi-do, South Korea.
authors.forename: Eva
authors.initials: E
authors.lastname: Bagyinszky
authors.affiliation: Department of Neurology, Chung-Ang University College of Medicine, Seoul, South Korea.
authors.forename: Young Chul
authors.initials: YC
authors.lastname: Youn
authors.affiliation: Department of BioNano Technology Gachon University, Gyeonggi-do, South Korea.
authors.forename: Seong Soo A
authors.initials: SS
authors.lastname: An
authors.affiliation: Department of Neurology, Seoul National University Budang Hospital, Gyeonggi-do, South Korea.
authors.forename: SangYun
authors.initials: S
authors.lastname: Kim
mesh_terms: D000367:Age Factors; D000368:Aged; D000544:Alzheimer Disease / Q000235:genetics*; D016564:Amyloid beta-Protein Precursor / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005820:Genetic Testing; D006801:Humans; D008875:Middle Aged; D011110:Polymorphism, Genetic / Q000235:genetics; D053764:Presenilin-1 / Q000235:genetics; D053766:Presenilin-2 / Q000235:genetics
chemical_list: C545487:APP protein, human; D016564:Amyloid beta-Protein Precursor; C508861:PSEN2 protein, human; D053764:Presenilin-1; D053766:Presenilin-2
keywords: APOE; amyloid precursor protein; dementia; diagnosis; genetic testing; mutation; presenilin 1; presenilin 2
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