Arvanitakis Z, Shah RC, Bennett DA (2019) Diagnosis and management of dementia: review. JAMA J Am Med Assoc. https://doi.org/10.1001/jama.2019.4782
Schneider JA, Arvanitakis Z, Bang W, Bennett DA (2007) Mixed brain pathologies account for most dementia cases in community-dwelling older persons. Neurology. https://doi.org/10.1212/01.wnl.0000271090.28148.24
Jellinger KA, Attems J (2015) Challenges of multimorbidity of the aging brain: a critical update. J Neural Transm. https://doi.org/10.1007/s00702-014-1288-x
Fischer CE, Qian W, Schweizer TA, Ismail Z, Smith EE, Millikin CP et al (2017) Determining the impact of psychosis on rates of false-positive and false-negative diagnosis in Alzheimer’s disease. Alzheimer’s Dement Transl Res Clin Interv. https://doi.org/10.1016/j.trci.2017.06.001
Medway C, Morgan K (2014) Review: the genetics of Alzheimer’s disease; putting flesh on the bones. Neuropathol Appl Neurobiol 40:97–105
Article CAS PubMed PubMed Central Google Scholar
Bellenguez C, Küçükali F, Jansen IE, Kleineidam L, Moreno-Grau S, Amin N et al (2022) New insights into the genetic etiology of Alzheimer’s disease and related dementias. Nat Genet 54(4):412
Article CAS PubMed PubMed Central Google Scholar
Sonnen JA, Santa Cruz K, Hemmy LS, Woltjer R, Leverenz JB, Montine KS et al (2011) Ecology of the aging human brain. Arch Neurol 68:1049–1056
Article PubMed PubMed Central Google Scholar
Bennett DA, Wilson RS, Boyle PA, Buchman AS, Schneider JA (2012) Relation of neuropathology to cognition in persons without cognitive impairment. Ann Neurol 72:599–609
Article PubMed PubMed Central Google Scholar
Bennett DA, Schneider JA, Wilson RS, Bienias JL, Arnold SE (2004) Neurofibrillary tangles mediate the association of amyloid load with clinical alzheimer disease and level of cognitive function. Arch Neurol 61:378–384
Farfel JM, Yu L, Buchman AS, Schneider JA, De Jager PL, Bennett DA (2016) Relation of genomic variants for Alzheimer disease dementia to common neuropathologies. Neurology. https://doi.org/10.1212/WNL.0000000000002909
Article PubMed PubMed Central Google Scholar
Beecham GW, Hamilton K, Naj AC, Martin ER, Huentelman M, Myers AJ et al (2014) Genome-wide association meta-analysis of neuropathologic features of Alzheimer’s disease and related dementias. PLoS Genet 10:e1004606
Article PubMed PubMed Central Google Scholar
2023 Alzheimer’s disease facts and figures. Alzheimer’s Dement. 2023
Dumitrescu L, Barnes LL, Thambisetty M, Beecham G, Kunkle B, Bush WS et al (2019) Sex differences in the genetic predictors of Alzheimer’s pathology. Brain. https://doi.org/10.1093/brain/awz206
Article PubMed PubMed Central Google Scholar
Tan CH, Fan CC, Mormino EC, Sugrue LP, Broce IJ, Hess CP et al (2018) Polygenic hazard score: an enrichment marker for Alzheimer’s associated amyloid and tau deposition. Acta Neuropathol 135:85–93
Article CAS PubMed Google Scholar
Jansen WJ, Ossenkoppele R, Knol DL, Tijms BM, Scheltens P, Verhey FRJ et al (2015) Prevalence of cerebral amyloid pathology in persons without dementia: a meta-analysis. JAMA J Am Med Assoc 313:1924–1938
Sperling RA, Aisen PS, Beckett LA, Bennett DA, Craft S, Fagan AM et al (2011) Toward defining the preclinical stages of Alzheimer’s disease: Recommendations from the National Institute on Aging- Alzheimer’s Association workgroups on diagnostic guidelines for Alzheimer’s disease. Alzheimer’s Dement 7:280–292
Naj AC, Leonenko G, Jian X, Grenier-boley B, Dalmasso C, Bellenguez C, et al. (2021) Genome-wide meta-analysis of late-onset Alzheimer’s disease using rare variant imputation in 65,602 subjects identifies novel rare variant locus NCK2 : the International Genomics of Alzheimer’s Project (IGAP). medRxiv.
Price AL, Patterson NJ, Plenge RM, Weinblatt ME, Shadick NA, Reich D (2006) Principal components analysis corrects for stratification in genome-wide association studies. Nat Genet. https://doi.org/10.1038/ng1847
Howie BN, Donnelly P, Marchini J (2009) A flexible and accurate genotype imputation method for the next generation of genome-wide association studies. PLoS Genet 5:e1000529
Article PubMed PubMed Central Google Scholar
Delaneau O, Coulonges C, Zagury JF (2008) Shape-IT: new rapid and accurate algorithm for haplotype inference. BMC Bioinform. https://doi.org/10.1186/1471-2105-9-540
Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MAR, Bender D et al (2007) PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 81:559–575
Article CAS PubMed PubMed Central Google Scholar
Willer CJ, Li Y, Abecasis GR (2010) METAL: Fast and efficient meta-analysis of genomewide association scans. Bioinformatics. https://doi.org/10.1093/bioinformatics/btq340
Article PubMed PubMed Central Google Scholar
Mägi R, Morris AP (2010) GWAMA: software for genome-wide association meta-analysis. Bioinformatics 11:288
PubMed PubMed Central Google Scholar
Watanabe K, Taskesen E, Van Bochoven A, Posthuma D (2017) Functional mapping and annotation of genetic associations with FUMA. Nat Commun 9:215
de Leeuw CA, Mooij JM, Heskes T, Posthuma D (2015) MAGMA: generalized gene-set analysis of GWAS data. PLoS Comput Biol 11(4):e1004219
Article PubMed PubMed Central Google Scholar
Aguet F, Barbeira AN, Bonazzola R, Brown A, Castel SE, Jo B et al (2020) The GTEx consortium atlas of genetic regulatory effects across human tissues. Science 369:1318
Zhou D, Jiang Y, Zhong X, Cox NJ, Liu C, Gamazon ER (2020) A unified framework for joint-tissue transcriptome-wide association and Mendelian randomization analysis. Nat Genet. https://doi.org/10.1038/s41588-020-0706-2
Article PubMed PubMed Central Google Scholar
Liu Y, Chen S, Li Z, Morrison AC, Boerwinkle E, Lin X (2019) ACAT: a fast and powerful p value combination method for rare-variant analysis in sequencing studies. Am J Hum Genet 5:e1000384
Millard LAC, Davies NM, Gaunt TR, Smith GD, Tilling K (2018) Software application profile: PHESANT: A tool for performing automated phenome scans in UK Biobank. Int J Epidemiol 1:123
Sun BB, Maranville JC, Peters JE, Stacey D, Staley JR, Blackshaw J et al (2018) Genomic atlas of the human plasma proteome. Nature. https://doi.org/10.1038/s41586-018-0175-2
Article PubMed PubMed Central Google Scholar
Mack S, Coassin S, Rueedi R, Yousri NA, Seppälä I, Gieger C et al (2017) A genome-wide association meta-analysis on lipoprotein (a) concentrations adjusted for apolipoprotein (a) isoforms. J Lipid Res. https://doi.org/10.1194/jlr.M076232
Article PubMed PubMed Central Google Scholar
Dennis JK, Sealock JM, Straub P, Lee YH, Hucks D, Actkins KE et al (2021) Clinical laboratory test-wide association scan of polygenic scores identifies biomarkers of complex disease. Genome Med 21:168
Astle WJ, Elding H, Jiang T, Allen D, Ruklisa D, Mann AL et al (2016) The allelic landscape of human blood cell trait variation and links to common complex disease. Cell 167(5):1415
Article CAS PubMed PubMed Central Google Scholar
Lambert JC, Ibrahim-Verbaas CA, Harold D, Naj AC, Sims R, Bellenguez C et al (2013) Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer’s disease. Nat Genet. https://doi.org/10.1016/j.jalz.2013.04.040
Article PubMed PubMed Central Google Scholar
Chapuis J, Hansmannel F, Gistelinck M, Mounier A, Van Cauwenberghe C, Kolen KV et al (2013) Increased expression of BIN1 mediates Alzheimer genetic risk by modulating tau pathology. Mol Psychiatry 18(11):1225
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