Alzheimer’s Disease: An Updated Overview of Its Genetics
Tóm tắt
Từ khóa
Tài liệu tham khảo
GBD 2016 Neurology Collaborators (2019). Global, regional, and national burden of Alzheimer’s disease and other dementias, 1990–2016: A systematic analysis for the Global Burden of Disease Study 2016. Lancet Neurol., 18, 88–106.
World Health Organization (WHO) (2022, November 03). Available online: https://www.who.int/news-room/fact-sheets/detail/dementia.
Matthews, 2019, Racial and ethnic estimates of Alzheimer’s disease and related dementias in the United States (2015–2060) in adults aged >/=65 years, Alzheimers Dement., 15, 17, 10.1016/j.jalz.2018.06.3063
Long, 2019, Alzheimer Disease: An Update on Pathobiology and Treatment Strategies, Cell, 179, 312, 10.1016/j.cell.2019.09.001
Maccioni, 2018, Pathway to Tau Modifications and the Origins of Alzheimer’s Disease, Arch. Med. Res., 49, 130, 10.1016/j.arcmed.2018.05.002
Gonzalez, A., Singh, S.K., Churruca, M., and Maccioni, R.B. (2022). Alzheimer’s Disease and Tau Self-Assembly: In the Search of the Missing Link. Int. J. Mol. Sci., 23.
Silva, 2019, Alzheimer’s disease: Risk factors and potentially protective measures, J. Biomed. Sci., 26, 33, 10.1186/s12929-019-0524-y
Reiss, 2018, Amyloid toxicity in Alzheimer’s disease, Rev. Neurosci., 29, 613, 10.1515/revneuro-2017-0063
Soto-Rojas, L.O., Pacheco-Herrero, M., Martinez-Gomez, P.A., Campa-Cordoba, B.B., Apatiga-Perez, R., Villegas-Rojas, M.M., Harrington, C.R., de la Cruz, F., Garces-Ramirez, L., and Luna-Munoz, J. (2021). The Neurovascular Unit Dysfunction in Alzheimer’s Disease. Int. J. Mol. Sci., 22.
Breijyeh, Z., and Karaman, R. (2020). Comprehensive Review on Alzheimer’s Disease: Causes and Treatment. Molecules, 25.
Livingston, 2017, Dementia prevention, intervention, and care, Lancet, 390, 2673, 10.1016/S0140-6736(17)31363-6
Bellenguez, 2022, New insights into the genetic etiology of Alzheimer’s disease and related dementias, Nat. Genet., 54, 412, 10.1038/s41588-022-01024-z
Du, 2018, Alzheimer’s disease hypothesis and related therapies, Transl. Neurodegener., 7, 2, 10.1186/s40035-018-0107-y
Sharma, 2019, Comprehensive review of mechanisms of pathogenesis involved in Alzheimer’s disease and potential therapeutic strategies, Prog. Neurobiol., 174, 53, 10.1016/j.pneurobio.2018.12.006
Wingo, 2021, Integrating human brain proteomes with genome-wide association data implicates new proteins in Alzheimer’s disease pathogenesis, Nat. Genet., 53, 143, 10.1038/s41588-020-00773-z
Cacace, 2016, Molecular genetics of early-onset Alzheimer’s disease revisited, Alzheimers Dement., 12, 733, 10.1016/j.jalz.2016.01.012
Lanoiselee, H.M., Nicolas, G., Wallon, D., Rovelet-Lecrux, A., Lacour, M., Rousseau, S., Richard, A.C., Pasquier, F., Rollin-Sillaire, A., and Martinaud, O. (2017). APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases. PLoS Med., 14.
(2022, November 03). Alzforum. Available online: https://www.alzforum.org/mutations.
Sleegers, 2016, The genetic landscape of Alzheimer disease: Clinical implications and perspectives, Genet. Med., 18, 421, 10.1038/gim.2015.117
Nalivaeva, 2013, The amyloid precursor protein: A biochemical enigma in brain development, function and disease, FEBS Lett., 587, 2046, 10.1016/j.febslet.2013.05.010
Belyaev, 2010, The transcriptionally active amyloid precursor protein (APP) intracellular domain is preferentially produced from the 695 isoform of APP in a β-secretase-dependent pathway, J. Biol. Chem., 285, 41443, 10.1074/jbc.M110.141390
Zhang, 2021, An APP ectodomain mutation outside of the Abeta domain promotes Abeta production in vitro and deposition in vivo, J. Exp. Med., 218, e20210313, 10.1084/jem.20210313
Muratore, 2014, The familial Alzheimer’s disease APPV717I mutation alters APP processing and Tau expression in iPSC-derived neurons, Hum. Mol. Genet., 23, 3523, 10.1093/hmg/ddu064
Doran, 2017, Down Syndrome, Partial Trisomy 21, and Absence of Alzheimer’s Disease: The Role of APP, J. Alzheimers Dis., 56, 459, 10.3233/JAD-160836
Kasuga, 2009, Identification of independent APP locus duplication in Japanese patients with early-onset Alzheimer disease, J. Neurol. Neurosurg. Psychiatry, 80, 1050, 10.1136/jnnp.2008.161703
Sleegers, 2006, APP duplication is sufficient to cause early onset Alzheimer’s dementia with cerebral amyloid angiopathy, Brain, 129, 2977, 10.1093/brain/awl203
Karch, 2015, Alzheimer’s disease risk genes and mechanisms of disease pathogenesis, Biol. Psychiatry, 77, 43, 10.1016/j.biopsych.2014.05.006
Yamazaki, 2019, Apolipoprotein E and Alzheimer disease: Pathobiology and targeting strategies, Nat. Rev. Neurol., 15, 501, 10.1038/s41582-019-0228-7
Safieh, M., Korczyn, A.D., and Michaelson, D.M. (2019). ApoE4: An emerging therapeutic target for Alzheimer’s disease. BMC Med., 17.
Sanchez, 2022, Distinct tau neuropathology and cellular profiles of an APOE3 Christchurch homozygote protected against autosomal dominant Alzheimer’s dementia, Acta Neuropathol., 144, 589, 10.1007/s00401-022-02467-8
Manzine, 2019, ADAM10 in Alzheimer’s disease: Pharmacological modulation by natural compounds and its role as a peripheral marker, Biomed. Pharmacother., 113, 108661, 10.1016/j.biopha.2019.108661
Peron, R., Vatanabe, I.P., Manzine, P.R., Camins, A., and Cominetti, M.R. (2018). Alpha-Secretase ADAM10 Regulation: Insights into Alzheimer’s Disease Treatment. Pharmaceuticals, 11.
Yuan, 2017, The Role of ADAM10 in Alzheimer’s Disease, J. Alzheimers Dis., 58, 303, 10.3233/JAD-170061
Narayan, 2020, PICALM Rescues Endocytic Defects Caused by the Alzheimer’s Disease Risk Factor APOE4, Cell Rep., 33, 108224, 10.1016/j.celrep.2020.108224
Ponomareva, 2020, Genetic Association Between Alzheimer’s Disease Risk Variant of the PICALM Gene and EEG Functional Connectivity in Non-demented Adults, Front. Neurosci., 14, 324, 10.3389/fnins.2020.00324
Xu, 2015, The Role of PICALM in Alzheimer’s Disease, Mol. Neurobiol., 52, 399, 10.1007/s12035-014-8878-3
Reddy, 2020, Neural regeneration therapies for Alzheimer’s and Parkinson’s disease-related disorders, Biochim. Biophys. Acta Mol. Basis Dis., 1866, 165506, 10.1016/j.bbadis.2019.06.020
Uddin, 2021, Exploring the Role of CLU in the Pathogenesis of Alzheimer’s Disease, Neurotox. Res., 39, 2108, 10.1007/s12640-020-00271-4
Harold, 2009, Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer’s disease, Nat. Genet., 41, 1088, 10.1038/ng.440
Jansen, 2019, Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer’s disease risk, Nat. Genet., 51, 404, 10.1038/s41588-018-0311-9
Maccioni, 2018, Alzheimer s Disease in the Perspective of Neuroimmunology, Open Neurol. J., 12, 50, 10.2174/1874205X01812010050
Cortes, N., Andrade, V., Guzman-Martinez, L., Estrella, M., and Maccioni, R.B. (2018). Neuroimmune Tau Mechanisms: Their Role in the Progression of Neuronal Degeneration. Int. J. Mol. Sci., 19.
Maccioni, 2010, The revitalized tau hypothesis on Alzheimer’s disease, Arch. Med. Res., 41, 226, 10.1016/j.arcmed.2010.03.007
Morales, 2010, Neuroimmunomodulation in the pathogenesis of Alzheimer’s disease, Neuroimmunomodulation, 17, 202, 10.1159/000258724
Cao, 2022, Association of SPI1 Haplotypes with Altered SPI1 Gene Expression and Alzheimer’s Disease Risk, J. Alzheimers Dis., 86, 1861, 10.3233/JAD-215311
Jones, 2021, Modest changes in Spi1 dosage reveal the potential for altered microglial function as seen in Alzheimer’s disease, Sci. Rep., 11, 14935, 10.1038/s41598-021-94324-z
Wissfeld, 2021, Deletion of Alzheimer’s disease-associated CD33 results in an inflammatory human microglia phenotype, Glia, 69, 1393, 10.1002/glia.23968
Griciuc, 2020, Gene therapy for Alzheimer’s disease targeting CD33 reduces amyloid beta accumulation and neuroinflammation, Hum. Mol. Genet., 29, 2920, 10.1093/hmg/ddaa179
Cruchaga, 2013, GWAS of cerebrospinal fluid tau levels identifies risk variants for Alzheimer’s disease, Neuron, 78, 256, 10.1016/j.neuron.2013.02.026
Tao, 2019, The role of CD2AP in the Pathogenesis of Alzheimer’s Disease, Aging Dis., 10, 901, 10.14336/AD.2018.1025
Sochocka, 2017, The Infectious Etiology of Alzheimer’s Disease, Curr. Neuropharmacol., 15, 996, 10.2174/1570159X15666170313122937
Jonsson, 2022, PILRA polymorphism modifies the effect of APOE4 and GM17 on Alzheimer’s disease risk, Sci. Rep., 12, 13264, 10.1038/s41598-022-17058-6
Agostini, 2019, The PILRA G78R Variant Correlates with Higher HSV-1-Specific IgG Titers in Alzheimer’s Disease, Cell Mol. Neurobiol., 39, 1217, 10.1007/s10571-019-00712-5
Linard, 2020, Interaction between APOE4 and herpes simplex virus type 1 in Alzheimer’s disease, Alzheimers Dement., 16, 200, 10.1002/alz.12008
Yuan, 2023, The common genes involved in the pathogenesis of Alzheimer’s disease and type 2 diabetes and their implication for drug repositioning, Neuropharmacology, 223, 109327, 10.1016/j.neuropharm.2022.109327
Goikolea, 2019, Alterations in cholesterol metabolism as a risk factor for developing Alzheimer’s disease: Potential novel targets for treatment, J. Steroid Biochem. Mol. Biol., 190, 104, 10.1016/j.jsbmb.2019.03.003
Mez, 2017, Two novel loci, COBL and SLC10A2, for Alzheimer’s disease in African Americans, Alzheimers Dement., 13, 119, 10.1016/j.jalz.2016.09.002
Gao, 2016, ZCWPW1 is associated with late-onset Alzheimer’s disease in Han Chinese: A replication study and meta-analyses, Oncotarget, 7, 20305, 10.18632/oncotarget.7945
Chen, 2021, AMPK: A bridge between diabetes mellitus and Alzheimer’s disease, Behav. Brain Res., 400, 113043, 10.1016/j.bbr.2020.113043
Pathak, 2019, Genome-Wide Methylation of Mild Cognitive Impairment in Mexican Americans Highlights Genes Involved in Synaptic Transport, Alzheimer’s Disease-Precursor Phenotypes, and Metabolic Morbidities, J. Alzheimers Dis., 72, 733, 10.3233/JAD-190634
Reagan, 2022, The 677C > T variant in methylenetetrahydrofolate reductase causes morphological and functional cerebrovascular deficits in mice, J. Cereb. Blood Flow Metab., 42, 2333, 10.1177/0271678X221122644
Sleegers, 2019, The role of ABCA7 in Alzheimer’s disease: Evidence from genomics, transcriptomics and methylomics, Acta Neuropathol., 138, 201, 10.1007/s00401-019-01994-1
Aikawa, T., Holm, M.L., and Kanekiyo, T. (2018). ABCA7 and Pathogenic Pathways of Alzheimer’s Disease. Brain Sci., 8.
Lambert, 2022, The Alzheimer susceptibility gene BIN1 induces isoform-dependent neurotoxicity through early endosome defects, Acta Neuropathol. Commun., 10, 4, 10.1186/s40478-021-01285-5
Perdigao, 2021, Alzheimer’s disease BIN1 coding variants increase intracellular Abeta levels by interfering with BACE1 recycling, J. Biol. Chem., 297, 101056, 10.1016/j.jbc.2021.101056
Gao, 2021, The Mechanistic Role of Bridging Integrator 1 (BIN1) in Alzheimer’s Disease, Cell Mol. Neurobiol., 41, 1431, 10.1007/s10571-020-00926-y
Naj, 2011, Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer’s disease, Nat. Genet., 43, 436, 10.1038/ng.801
Hollingworth, 2011, Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer’s disease, Nat. Genet., 43, 429, 10.1038/ng.803
Talebi, 2020, ABCA7 and EphA1 Genes Polymorphisms in Late-Onset Alzheimer’s Disease, J. Mol. Neurosci., 70, 167, 10.1007/s12031-019-01420-x
Moreau, 2014, PICALM modulates autophagy activity and tau accumulation, Nat. Commun., 5, 4998, 10.1038/ncomms5998
Tian, 2013, Adaptor complex AP2/PICALM, through interaction with LC3, targets Alzheimer’s APP-CTF for terminal degradation via autophagy, Proc. Natl. Acad. Sci. USA, 110, 17071, 10.1073/pnas.1315110110
Campion, 2019, SORL1 genetic variants and Alzheimer disease risk: A literature review and meta-analysis of sequencing data, Acta Neuropathol., 138, 173, 10.1007/s00401-019-01991-4
Yin, 2015, The Role of SORL1 in Alzheimer’s Disease, Mol. Neurobiol., 51, 909, 10.1007/s12035-014-8742-5
Kunkle, 2016, Genome-wide linkage analyses of non-Hispanic white families identify novel loci for familial late-onset Alzheimer’s disease, Alzheimers Dement., 12, 2, 10.1016/j.jalz.2015.05.020
Lu, 2021, Explore the role of CR1 genetic variants in late-onset Alzheimer’s disease susceptibility, Psychiatr. Genet., 31, 216, 10.1097/YPG.0000000000000291
Crehan, 2012, Complement receptor 1 (CR1) and Alzheimer’s disease, Immunobiology, 217, 244, 10.1016/j.imbio.2011.07.017
Han, S., Nho, K., and Lee, Y. (2020). Alternative Splicing Regulation of an Alzheimer’s Risk Variant in CLU. Int. J. Mol. Sci., 21.
Griciuc, 2013, Alzheimer’s disease risk gene CD33 inhibits microglial uptake of amyloid beta, Neuron, 78, 631, 10.1016/j.neuron.2013.04.014
Qin, 2021, TREM2, microglia, and Alzheimer’s disease, Mech. Ageing Dev., 195, 111438, 10.1016/j.mad.2021.111438
Shi, 2018, Interplay between innate immunity and Alzheimer disease: APOE and TREM2 in the spotlight, Nat. Rev. Immunol., 18, 759, 10.1038/s41577-018-0051-1
Ulland, 2017, TREM2 Maintains Microglial Metabolic Fitness in Alzheimer’s Disease, Cell, 170, 649, 10.1016/j.cell.2017.07.023
Lee, E.G., Chen, S., Leong, L., Tulloch, J., and Yu, C.E. (2021). TOMM40 RNA Transcription in Alzheimer’s Disease Brain and Its Implication in Mitochondrial Dysfunction. Genes, 12.
Bezuch, 2021, Superior Frontal Gyrus TOMM40-APOE Locus DNA Methylation in Alzheimer’s Disease, J. Alzheimers Dis. Rep., 5, 275, 10.3233/ADR-201000
Zhu, 2021, TOMM40 and APOE variants synergistically increase the risk of Alzheimer’s disease in a Chinese population, Aging Clin. Exp. Res., 33, 1667, 10.1007/s40520-020-01661-6
Zhu, 2017, State of Play in Alzheimer’s Disease Genetics, J. Alzheimers Dis., 58, 631, 10.3233/JAD-170062
Eysert, 2021, Alzheimer’s genetic risk factor FERMT2 (Kindlin-2) controls axonal growth and synaptic plasticity in an APP-dependent manner, Mol. Psychiatry, 26, 5592, 10.1038/s41380-020-00926-w
Chapuis, 2017, Genome-wide, high-content siRNA screening identifies the Alzheimer’s genetic risk factor FERMT2 as a major modulator of APP metabolism, Acta Neuropathol., 133, 955, 10.1007/s00401-016-1652-z
Hassan, 2018, Exploring the mechanistic insights of Cas scaffolding protein family member 4 with protein tyrosine kinase 2 in Alzheimer’s disease by evaluating protein interactions through molecular docking and dynamic simulations, Neurol. Sci., 39, 1361, 10.1007/s10072-018-3430-2
Beck, 2014, Adaptors for disorders of the brain? The cancer signaling proteins NEDD9, CASS4, and PTK2B in Alzheimer’s disease, Oncoscience, 1, 486, 10.18632/oncoscience.64
Dourlen, 2017, Functional screening of Alzheimer risk loci identifies PTK2B as an in vivo modulator and early marker of Tau pathology, Mol. Psychiatry, 22, 874, 10.1038/mp.2016.59
Tsai, 2021, INPP5D expression is associated with risk for Alzheimer’s disease and induced by plaque-associated microglia, Neurobiol. Dis., 153, 105303, 10.1016/j.nbd.2021.105303
Yoshino, 2017, INPP5D mRNA Expression and Cognitive Decline in Japanese Alzheimer’s Disease Subjects, J. Alzheimers Dis., 58, 687, 10.3233/JAD-161211
Chen, 2021, Netrin-1 receptor UNC5C cleavage by active delta-secretase enhances neurodegeneration, promoting Alzheimer’s disease pathologies, Sci. Adv., 7, eabe4499, 10.1126/sciadv.abe4499
Li, 2018, The role of UNC5C in Alzheimer’s disease, Ann. Transl. Med., 6, 178, 10.21037/atm.2018.04.43
Nackenoff, A.G., Hohman, T.J., Neuner, S.M., Akers, C.S., Weitzel, N.C., Shostak, A., Ferguson, S.M., Mobley, B., Bennett, D.A., and Schneider, J.A. (2021). PLD3 is a neuronal lysosomal phospholipase D associated with beta-amyloid plaques and cognitive function in Alzheimer’s disease. PLoS Genet., 17.
Stage, 2016, The effect of the top 20 Alzheimer disease risk genes on gray-matter density and FDG PET brain metabolism, Alzheimers Dement., 5, 53
Makela, 2018, Alzheimer risk loci and associated neuropathology in a population-based study (Vantaa 85+), Neurol. Genet., 4, e211, 10.1212/NXG.0000000000000211
Zhang, 2015, Inflammation in Alzheimer’s Disease and Molecular Genetics: Recent Update, Arch. Immunol. Ther. Exp., 63, 333, 10.1007/s00005-015-0351-0
Kim, 2017, Modelling APOE varepsilon3/4 allele-associated sporadic Alzheimer’s disease in an induced neuron, Brain, 140, 2193, 10.1093/brain/awx144
You, 2021, The Influence of MTHFR Polymorphism on Gray Matter Volume in Patients with Amnestic Mild Cognitive Impairment, Front. Neurosci., 15, 778123, 10.3389/fnins.2021.778123
Kaur, 2012, Cystatin C in Alzheimer’s disease, Front. Mol. Neurosci., 5, 79, 10.3389/fnmol.2012.00079
Sun, 2008, Cystatin C-cathepsin B axis regulates amyloid beta levels and associated neuronal deficits in an animal model of Alzheimer’s disease, Neuron, 60, 247, 10.1016/j.neuron.2008.10.001
Mi, 2007, Cystatin C inhibits amyloid-beta deposition in Alzheimer’s disease mouse models, Nat. Genet., 39, 1440, 10.1038/ng.2007.29
Greig, 2005, Selective butyrylcholinesterase inhibition elevates brain acetylcholine, augments learning and lowers Alzheimer beta-amyloid peptide in rodent, Proc. Natl. Acad. Sci. USA, 102, 17213, 10.1073/pnas.0508575102
Guillozet, 1997, Butyrylcholinesterase in the life cycle of amyloid plaques, Ann. Neurol., 42, 909, 10.1002/ana.410420613
Letronne, 2016, ADAM30 Downregulates APP-Linked Defects Through Cathepsin D Activation in Alzheimer’s Disease, EBioMedicine, 9, 278, 10.1016/j.ebiom.2016.06.002
Mariani, 2006, Interaction of CTSD and A2M polymorphisms in the risk for Alzheimer’s disease, J. Neurol. Sci., 247, 187, 10.1016/j.jns.2006.05.043
Ren, 2022, MEF2C ameliorates learning, memory, and molecular pathological changes in Alzheimer’s disease in vivo and in vitro, Acta Biochim. Biophys. Sin., 54, 77, 10.3724/abbs.2021012
Zhang, 2022, Progress on the roles of MEF2C in neuropsychiatric diseases, Mol. Brain, 15, 8, 10.1186/s13041-021-00892-6
Xue, 2021, Type I interferon response-related microglial Mef2c deregulation at the onset of Alzheimer’s pathology in 5xFAD mice, Neurobiol. Dis., 152, 105272, 10.1016/j.nbd.2021.105272
Karahan, 2021, Deletion of Abi3 gene locus exacerbates neuropathological features of Alzheimer’s disease in a mouse model of Abeta amyloidosis, Sci. Adv., 7, eabe3954, 10.1126/sciadv.abe3954
Satoh, 2017, Microglia express ABI3 in the brains of Alzheimer’s disease and Nasu-Hakola disease, Intractable Rare Dis. Res., 6, 262, 10.5582/irdr.2017.01073
Li, 2022, PLCgamma2 impacts microglia-related effectors revealing variants and pathways important in Alzheimer’s disease, Front. Cell Dev. Biol., 10, 999061, 10.3389/fcell.2022.999061
Claes, 2022, The P522R protective variant of PLCG2 promotes the expression of antigen presentation genes by human microglia in an Alzheimer’s disease mouse model, Alzheimers Dement., 18, 1765, 10.1002/alz.12577
Kleineidam, 2020, PLCG2 protective variant p.P522R modulates tau pathology and disease progression in patients with mild cognitive impairment, Acta Neuropathol., 139, 1025, 10.1007/s00401-020-02138-6
Sims, 2017, Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer’s disease, Nat. Genet., 49, 1373, 10.1038/ng.3916
Li, 2021, Genomics of Alzheimer’s disease implicates the innate and adaptive immune systems, Cell. Mol. Life Sci., 78, 7397, 10.1007/s00018-021-03986-5
Yu, 2022, Advances in the Structural and Physiological Functions of SHARPIN, Front. Immunol., 13, 858505, 10.3389/fimmu.2022.858505
Park, 2021, Alzheimer’s Disease Neuroimaging, I. A missense variant in SHARPIN mediates Alzheimer’s disease-specific brain damages, Transl. Psychiatry, 11, 590, 10.1038/s41398-021-01680-5
Krishnan, 2022, SHARPIN: Role in Finding NEMO and in Amyloid-Beta Clearance and Degradation (ABCD) Pathway in Alzheimer’s Disease?, Cell. Mol. Neurobiol., 42, 1267, 10.1007/s10571-020-01023-w
Krishnan, 2020, A novel role for SHARPIN in amyloid-beta phagocytosis and inflammation by peripheral blood-derived macrophages in Alzheimer’s disease, Neurobiol. Aging, 93, 131, 10.1016/j.neurobiolaging.2020.02.001
Asanomi, 2019, A rare functional variant of SHARPIN attenuates the inflammatory response and associates with increased risk of late-onset Alzheimer’s disease, Mol. Med., 25, 20, 10.1186/s10020-019-0090-5
Zhu, 2021, Priming of NLRP3 inflammasome activation by Msn kinase MINK1 in macrophages, Cell. Mol. Immunol., 18, 2372, 10.1038/s41423-021-00761-1
Lawingco, 2021, Genetic variants in glutamate-, Abeta-, and tau-related pathways determine polygenic risk for Alzheimer’s disease, Neurobiol. Aging, 101, 299.e13, 10.1016/j.neurobiolaging.2020.11.009
Larhammar, 2017, The Ste20 Family Kinases MAP4K4, MINK1, and TNIK Converge to Regulate Stress-Induced JNK Signaling in Neurons, J. Neurosci., 37, 11074, 10.1523/JNEUROSCI.0905-17.2017
Park, 2021, Dysregulated expression levels of APH1B in peripheral blood are associated with brain atrophy and amyloid-beta deposition in Alzheimer’s disease, Alzheimers Res. Ther., 13, 183, 10.1186/s13195-021-00919-z
Barao, 2015, Antagonistic Effects of BACE1 and APH1B-gamma-Secretase Control Axonal Guidance by Regulating Growth Cone Collapse, Cell Rep., 12, 1367, 10.1016/j.celrep.2015.07.059
Fazzari, 2014, Cell autonomous regulation of hippocampal circuitry via Aph1b-gamma-secretase/neuregulin 1 signalling, eLife, 3, e02196, 10.7554/eLife.02196
Zhao, 2020, 3-O-Sulfation of Heparan Sulfate Enhances Tau Interaction and Cellular Uptake, Angew. Chem. Int. Ed. Engl., 59, 1818, 10.1002/anie.201913029
Holmes, 2013, Heparan sulfate proteoglycans mediate internalization and propagation of specific proteopathic seeds, Proc. Natl. Acad. Sci. USA, 110, E3138, 10.1073/pnas.1301440110
Tesi, 2019, Centenarian controls increase variant effect sizes by an average twofold in an extreme case-extreme control analysis of Alzheimer’s disease, Eur. J. Hum. Genet., 27, 244, 10.1038/s41431-018-0273-5
Jun, 2017, Transethnic genome-wide scan identifies novel Alzheimer’s disease loci, Alzheimers Dement., 13, 727, 10.1016/j.jalz.2016.12.012
MacLachlan, 2022, Dysregulation of ACE-1 in Normal Aging and the Early Stages of Alzheimer’s Disease, J. Gerontol. A Biol. Sci. Med. Sci., 77, 1775, 10.1093/gerona/glac083
Braae, 2015, Blood type gene locus has no influence on ACE association with Alzheimer’s disease, Neurobiol. Aging, 36, 1767.e1, 10.1016/j.neurobiolaging.2015.01.013
Narain, 2000, The ACE gene and Alzheimer’s disease susceptibility, J. Med. Genet., 37, 695, 10.1136/jmg.37.9.695
Westwood, 2014, Insulin-like growth factor-1 and risk of Alzheimer dementia and brain atrophy, Neurology, 82, 1613, 10.1212/WNL.0000000000000382
Zoidis, 2011, Stimulation of glucose transport in osteoblastic cells by parathyroid hormone and insulin-like growth factor I, Mol. Cell. Biochem., 348, 33, 10.1007/s11010-010-0634-z
Spangenberg, 2016, Eliminating microglia in Alzheimer’s mice prevents neuronal loss without modulating amyloid-beta pathology, Brain, 139, 1265, 10.1093/brain/aww016
Bekdash, R.A. (2021). Early Life Nutrition and Mental Health: The Role of DNA Methylation. Nutrients, 13.
Estivill, 2011, DNA methylation in neurodegenerative disorders: A missing link between genome and environment?, Clin. Genet., 80, 1, 10.1111/j.1399-0004.2011.01673.x
Schwartzentruber, 2021, Genome-wide meta-analysis, fine-mapping and integrative prioritization implicate new Alzheimer’s disease risk genes, Nat. Genet., 53, 392, 10.1038/s41588-020-00776-w
Jia, 2021, Prediction of Alzheimer’s disease using multi-variants from a Chinese genome-wide association study, Brain, 144, 924, 10.1093/brain/awaa364
Nazarian, 2019, Genome-wide analysis of genetic predisposition to Alzheimer’s disease and related sex disparities, Alzheimers Res. Ther., 11, 5, 10.1186/s13195-018-0458-8
Tariot, 2022, Sex differences in cognitive resilience in preclinical autosomal-dominant Alzheimer’s disease carriers and non-carriers: Baseline findings from the API ADAD Colombia Trial, Alzheimers Dement., 18, 2272, 10.1002/alz.12552
Stern, 2012, Cognitive reserve in ageing and Alzheimer’s disease, Lancet Neurol., 11, 1006, 10.1016/S1474-4422(12)70191-6
Hardy, 2022, Genome-wide association studies for Alzheimer’s disease: Bigger is not always better, Brain Commun., 4, fcac125, 10.1093/braincomms/fcac125
Marioni, 2018, GWAS on family history of Alzheimer’s disease, Transl. Psychiatry, 8, 99, 10.1038/s41398-018-0150-6
Gallagher, 2018, The Post-GWAS Era: From Association to Function, Am. J. Hum. Genet., 102, 717, 10.1016/j.ajhg.2018.04.002
Grupe, 2007, Evidence for novel susceptibility genes for late-onset Alzheimer’s disease from a genome-wide association study of putative functional variants, Hum. Mol. Genet., 16, 865, 10.1093/hmg/ddm031
Bertram, 2008, Genome-wide association analysis reveals putative Alzheimer’s disease susceptibility loci in addition to APOE, Am. J. Hum. Genet., 83, 623, 10.1016/j.ajhg.2008.10.008
Lambert, 2009, Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer’s disease, Nat. Genet., 41, 1094, 10.1038/ng.439
Seshadri, 2010, Genome-wide analysis of genetic loci associated with Alzheimer disease, JAMA, 303, 1832, 10.1001/jama.2010.574
Feulner, 2010, Examination of the current top candidate genes for AD in a genome-wide association study, Mol. Psychiatry, 15, 756, 10.1038/mp.2008.141
Wijsman, E.M., Pankratz, N.D., Choi, Y., Rothstein, J.H., Faber, K.M., Cheng, R., Lee, J.H., Bird, T.D., Bennett, D.A., and Diaz-Arrastia, R. (2011). Genome-wide association of familial late-onset Alzheimer’s disease replicates BIN1 and CLU and nominates CUGBP2 in interaction with APOE. PLoS Genet., 7.
Logue, 2011, Multi-Institutional Research on Alzheimer Genetic Epidemiology Study, G. A comprehensive genetic association study of Alzheimer disease in African Americans, Arch. Neurol., 68, 1569, 10.1001/archneurol.2011.646
Lee, 2011, Identification of novel loci for Alzheimer disease and replication of CLU, PICALM, and BIN1 in Caribbean Hispanic individuals, Arch. Neurol., 68, 320, 10.1001/archneurol.2010.292
Gaj, 2012, Identification of a late onset Alzheimer’s disease candidate risk variant at 9q21.33 in Polish patients, J. Alzheimers Dis., 32, 157, 10.3233/JAD-2012-120520
Kamboh, 2012, Genome-wide association study of Alzheimer’s disease, Transl. Psychiatry, 2, e117, 10.1038/tp.2012.45
Cruchaga, 2014, Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer’s disease, Nature, 505, 550, 10.1038/nature12825
Jonsson, 2013, Variant of TREM2 associated with the risk of Alzheimer’s disease, N. Engl. J. Med., 368, 107, 10.1056/NEJMoa1211103
Floudas, 2014, Identifying genetic interactions associated with late-onset Alzheimer’s disease, BioData Min., 7, 35, 10.1186/s13040-014-0035-z
Jun, 2014, PLXNA4 is associated with Alzheimer disease and modulates tau phosphorylation, Ann. Neurol., 76, 379, 10.1002/ana.24219
Tosto, 2015, F-box/LRR-repeat protein 7 is genetically associated with Alzheimer’s disease, Ann. Clin. Transl. Neurol., 2, 810, 10.1002/acn3.223
Hirano, 2015, A genome-wide association study of late-onset Alzheimer’s disease in a Japanese population, Psychiatr. Genet., 25, 139, 10.1097/YPG.0000000000000090
Herold, 2016, Family-based association analyses of imputed genotypes reveal genome-wide significant association of Alzheimer’s disease with OSBPL6, PTPRG, and PDCL3, Mol. Psychiatry, 21, 1608, 10.1038/mp.2015.218
Hao, 2018, Prediction of Alzheimer’s Disease-Associated Genes by Integration of GWAS Summary Data and Expression Data, Front. Genet., 9, 653, 10.3389/fgene.2018.00653
Kunkle, 2019, Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Abeta, tau, immunity and lipid processing, Nat. Genet., 51, 414, 10.1038/s41588-019-0358-2
Kunkle, 2021, Novel Alzheimer Disease Risk Loci and Pathways in African American Individuals Using the African Genome Resources Panel: A Meta-analysis, JAMA Neurol., 78, 102, 10.1001/jamaneurol.2020.3536
Shigemizu, 2022, Whole-genome sequencing reveals novel ethnicity-specific rare variants associated with Alzheimer’s disease, Mol. Psychiatry, 27, 2554, 10.1038/s41380-022-01483-0
Yong, 2016, Profiling genome-wide DNA methylation, Epigenetics Chromatin, 9, 26, 10.1186/s13072-016-0075-3
Visscher, 2017, 10 Years of GWAS Discovery: Biology, Function, and Translation, Am. J. Hum. Genet., 101, 5, 10.1016/j.ajhg.2017.06.005
Sabarwal, 2018, Hazardous effects of chemical pesticides on human health-Cancer and other associated disorders, Environ. Toxicol. Pharmacol., 63, 103, 10.1016/j.etap.2018.08.018
Gao, 2022, Epigenetics in Alzheimer’s Disease, Front. Aging Neurosci., 14, 911635, 10.3389/fnagi.2022.911635
Tam, 2019, Benefits and limitations of genome-wide association studies, Nat. Rev. Genet., 20, 467, 10.1038/s41576-019-0127-1
Wang, 2021, Genome-wide epistasis analysis for Alzheimer’s disease and implications for genetic risk prediction, Alzheimers Res. Ther., 13, 55, 10.1186/s13195-021-00794-8
Vaz, 2020, Alzheimer’s disease: Recent treatment strategies, Eur. J. Pharmacol., 887, 173554, 10.1016/j.ejphar.2020.173554
Panza, 2019, Amyloid-beta immunotherapy for alzheimer disease: Is it now a long shot?, Ann. Neurol., 85, 303, 10.1002/ana.25410
Swanson, 2023, Lecanemab in Early Alzheimer’s Disease, N. Engl. J. Med., 388, 9, 10.1056/NEJMoa2212948
U.S. Food & Drug Administration (2023, January 10). Available online: https://www.fda.gov/news-events/press-announcements/fda-grants-accelerated-approval-alzheimers-disease-treatment.
Nehls, 2016, Unified theory of Alzheimer’s disease (UTAD): Implications for prevention and curative therapy, J. Mol. Psychiatry, 4, 3, 10.1186/s40303-016-0018-8
Gauthier, 2019, Combination Therapy for Alzheimer’s Disease: Perspectives of the EU/US CTAD Task Force, J. Prev. Alzheimers Dis., 6, 164
Rosenberg, 2020, Multidomain Interventions to Prevent Cognitive Impairment, Alzheimer’s Disease, and Dementia: From FINGER to World-Wide FINGERS, J. Prev. Alzheimers Dis., 7, 29
Kivipelto, 2018, Lifestyle interventions to prevent cognitive impairment, dementia and Alzheimer disease, Nat. Rev. Neurol., 14, 653, 10.1038/s41582-018-0070-3