Bellenguez C, Küçükali F, Jansen IE, Kleineidam L, Moreno-Grau S, Amin N, et al. New insights into the genetic etiology of Alzheimer’s disease and related dementias. Nat Genet. 2022;54(4):412–36.
Article CAS PubMed PubMed Central Google Scholar
Kunkle BW, Grenier-Boley B, Sims R, Bis JC, Damotte V, Naj AC, et al. Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing. Nat Genet. 2019;51(3):414–30.
Article CAS PubMed PubMed Central Google Scholar
Wightman DP, Jansen IE, Savage JE, Shadrin AA, Bahrami S, Holland D, et al. A genome-wide association study with 1,126,563 individuals identifies new risk loci for Alzheimer’s disease. Nat Genet. 2021;53(9):1276–82.
Article CAS PubMed PubMed Central Google Scholar
Jansen IE, Savage JE, Watanabe K, Bryois J, Williams DM, Steinberg S, et al. Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer’s disease risk. Nat Genet. 2019;51(3):404–13.
Article CAS PubMed PubMed Central Google Scholar
Schwartzentruber J, Cooper S, Liu JZ, Barrio-Hernandez I, Bello E, Kumasaka N, et al. Genome-wide meta-analysis, fine-mapping and integrative prioritization implicate new Alzheimer’s disease risk genes. Nat Genet. 2021;53(3):392–402.
Article CAS PubMed PubMed Central Google Scholar
de Rojas I, Moreno-Grau S, Tesi N, Grenier-Boley B, Andrade V, Jansen IE, et al. Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores. Nat Commun. 2021;12(1):3417.
Article PubMed PubMed Central Google Scholar
Collins RL, Brand H, Karczewski KJ, Zhao X, Alföldi J, Francioli LC, et al. A structural variation reference for medical and population genetics. Nature. 2020;581(7809):444–51.
Article CAS PubMed PubMed Central Google Scholar
Sudmant PH, Rausch T, Gardner EJ, Handsaker RE, Abyzov A, Huddleston J, et al. An integrated map of structural variation in 2,504 human genomes. Nature. 2015;526(7571):75–81.
Article CAS PubMed PubMed Central Google Scholar
Chiang C, Scott AJ, Davis JR, Tsang EK, Li X, Kim Y, et al. The impact of structural variation on human gene expression. Nat Genet. 2017;49(5):692–9.
Article CAS PubMed PubMed Central Google Scholar
Scott AJ, Chiang C, Hall IM. Structural variants are a major source of gene expression differences in humans and often affect multiple nearby genes. Genome Res. 2021;31(12):2249–57.
Article CAS PubMed PubMed Central Google Scholar
Blom ES, Viswanathan J, Kilander L, Helisalmi S, Soininen H, Lannfelt L, et al. Low prevalence of APP duplications in Swedish and Finnish patients with early-onset Alzheimer’s disease. Eur J Hum Genet. 2008;16(2):171–5.
Article CAS PubMed Google Scholar
Hooli BV, Mohapatra G, Mattheisen M, Parrado AR, Roehr JT, Shen Y, et al. Role of common and rare APP DNA sequence variants in Alzheimer disease. Neurology. 2012;78(16):1250–7.
Article CAS PubMed PubMed Central Google Scholar
Kasuga K, Shimohata T, Nishimura A, Shiga A, Mizuguchi T, Tokunaga J, et al. Identification of independent APP locus duplication in Japanese patients with early-onset Alzheimer disease. J Neurol Neurosurg Psychiatry. 2009;80(9):1050–2.
Article CAS PubMed Google Scholar
Rovelet-Lecrux A, Hannequin D, Raux G, Le Meur N, Laquerrière A, Vital A, et al. APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy. Nat Genet. 2006;38(1):24–6.
Article CAS PubMed Google Scholar
Sleegers K, Brouwers N, Gijselinck I, Theuns J, Goossens D, Wauters J, et al. APP duplication is sufficient to cause early onset Alzheimer’s dementia with cerebral amyloid angiopathy. Brain. 2006;129(Pt 11):2977–83.
Wang H, Wang L-S, Schellenberg G, Lee W-P. The role of structural variations in Alzheimer’s disease and other neurodegenerative diseases. Front Aging Neurosci. 2022;14:1073905.
Article CAS PubMed Google Scholar
Wang H, Dombroski BA, Cheng PL, Tucci A, Si YQ, Farrell JJ, et al. Structural variation detection and association analysis of whole-genome-sequence data from 16,905 Alzheimer’s diseases sequencing project subjects. medRxiv. 2023.09.13.23295505.
Baker M, Litvan I, Houlden H, Adamson J, Dickson D, Perez-Tur J, et al. Association of an extended haplotype in the tau gene with progressive supranuclear palsy. Hum Mol Genet. 1999;8(4):711–5.
Article CAS PubMed Google Scholar
DeJesus-Hernandez M, Mackenzie IR, Boeve BF, Boxer AL, Baker M, Rutherford NJ, et al. Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron. 2011;72(2):245–56.
Article CAS PubMed PubMed Central Google Scholar
Kaivola K, Chia R, Ding J, Rasheed M, Fujita M, Menon V, et al. Genome-wide structural variant analysis identifies risk loci for non-Alzheimer’s dementias. Cell Genom. 2023;3(6):100316.
Article CAS PubMed PubMed Central Google Scholar
Wang H, Chang TS, Dombroski BA, Cheng P-L, Patil V, Valiente-Banuet L, et al. Whole-genome sequencing analysis reveals new susceptibility loci and structural variants associated with progressive supranuclear palsy. Mol Neurodegener. 2024;19(1):61.
Article CAS PubMed PubMed Central Google Scholar
Zabetian CP, Hutter CM, Factor SA, Nutt JG, Higgins DS, Griffith A, et al. Association analysis of MAPT H1 haplotype and subhaplotypes in Parkinson’s disease. Ann Neurol. 2007;62(2):137–44.
Article CAS PubMed PubMed Central Google Scholar
Billingsley KJ, Ding J, Jerez PA, Illarionova A, Levine K, Grenn FP, et al. Genome-wide analysis of structural variants in Parkinson disease. Ann Neurol. 2023;93(5):1012–22.
Article CAS PubMed PubMed Central Google Scholar
Vialle RA, de Paiva LK, Bennett DA, Crary JF, Raj T. Integrating whole-genome sequencing with multi-omic data reveals the impact of structural variants on gene regulation in the human brain. Nat Neurosci. 2022;25(4):504–14.
Article CAS PubMed PubMed Central Google Scholar
Bennett DA, Buchman AS, Boyle PA, Barnes LL, Wilson RS, Schneider JA. Religious orders study and rush memory and aging project. J Alzheimers Dis. 2018;64(s1):S161–89.
Article PubMed PubMed Central Google Scholar
Bennett DA, Schneider JA, Arvanitakis Z, Wilson RS. Overview and findings from the religious orders study. Curr Alzheimer Res. 2012;9(6):628–45.
Article CAS PubMed PubMed Central Google Scholar
Bennett DA, Schneider JA, Buchman AS, Barnes LL, Boyle PA, Wilson RS. Overview and findings from the rush memory and aging project. Curr Alzheimer Res. 2012;9(6):646–63.
Article CAS PubMed PubMed Central Google Scholar
Bennett DA, Schneider JA, Arvanitakis Z, Kelly JF, Aggarwal NT, Shah RC, et al. Neuropathology of older persons without cognitive impairment from two community-based studies. Neurology. 2006;66(12):1837–44.
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