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Large multi-ethnic genetic analyses of amyloid imaging identify new genes for Alzheimer disease
Abstract
Amyloid PET imaging has been crucial for detecting the accumulation of amyloid beta (Aβ) deposits in the brain and to study Alzheimer’s disease (AD). We performed a genome-wide association study on the largest collection of amyloid imaging data (N = 13,409) to date, across multiple ethnicities from multicenter cohorts to identify variants associated with brain amyloidosis and AD risk. We found a strong APOE signal on chr19q.13.32 (top SNP: APOE ɛ4; rs429358; β = 0.35, SE = 0.01, P = 6.2 × 10–311, MAF = 0.19), driven by APOE ɛ4, and five additional novel associations (APOE ε2/rs7412; rs73052335/rs5117, rs1081105, rs438811, and rs4420638) independent of APOE ɛ4. APOE ɛ4 and ε2 showed race specific effect with stronger association in Non-Hispanic Whites, with the lowest association in Asians. Besides the APOE, we also identified three other genome-wide loci: ABCA7 (rs12151021/chr19p.13.3; β = 0.07, SE = 0.01, P = 9.2 × 10–09, MAF = 0.32), CR1 (rs6656401/chr1q.32.2; β = 0.1, SE = 0.02, P = 2.4 × 10–10, MAF = 0.18) and FERMT2 locus (rs117834516/chr14q.22.1; β = 0.16, SE = 0.03, P = 1.1 × 10–09, MAF = 0.06) that all colocalized with AD risk. Sex-stratified analyses identified two novel female-specific signals on chr5p.14.1 (rs529007143, β = 0.79, SE = 0.14, P = 1.4 × 10–08, MAF = 0.006, sex-interaction P = 9.8 × 10–07) and chr11p.15.2 (rs192346166, β = 0.94, SE = 0.17, P = 3.7 × 10–08, MAF = 0.004, sex-interaction P = 1.3 × 10–03). We also demonstrated that the overall genetic architecture of brain amyloidosis overlaps with that of AD, Frontotemporal Dementia, stroke, and brain structure-related complex human traits. Overall, our results have important implications when estimating the individual risk to a population level, as race and sex will needed to be taken into account. This may affect participant selection for future clinical trials and therapies.
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These variants have been reported in previous studies to exhibit strong associations with AD risk.
“and have been reported in previous studies to exhibit strong associations with AD risk [4, 12, 77–80].”
From Association of APOC1 with cortical atrophy during conversion to Alzheimer’s disease (2025) · cites this paper as [79]
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Hyman, B. T., Phelps, C. H., Beach, T. G., Bigio, E. H., Cairns, N. J., Carrillo, M. C., Dickson, D. W., Duyckaerts, C., Frosch, M. P., Masliah, E., et al. (2012) · Alzheimer's & Dementia · doi:10.1016/j.jalz.2011.10.007 · Cited by 3,092
2019 Alzheimer’s disease facts and figures.
Alzheimer's Association (2019) · Alzheimer's & Dementia · doi:10.1016/j.jalz.2019.01.010 · Cited by 2,461
Jansen, I. E., Savage, J. E., Watanabe, K., Bryois, J., Williams, D. M., Steinberg, S., Sealock, J., Karlsson, I. K., Hägg, S., Athanasiu, L., et al. (2019) · Nature Genetics · doi:10.1038/s41588-018-0311-9 · Cited by 2,277
Self-citationInflammation as a central mechanism in Alzheimer's disease
Kinney, J. W., Bemiller, S. M., Murtishaw, A. S., Leisgang, A. M., Salazar, A. M., & Lamb, B. T. (2018) · Alzheimer's & Dementia: Translational Research & Clinical Interventions · doi:10.1016/j.trci.2018.06.014 · Cited by 2,253 · cited 1×
“These results highlight the shared genetic architecture underlying central mechanism in AD and other neuroinflammatory disorders [83, 84].”
BackgroundFast and accurate genotype imputation in genome-wide association studies through pre-phasing
Howie, B., Fuchsberger, C., Stephens, M., Marchini, J., & Abecasis, G. R. (2012) · Nature Genetics · doi:10.1038/ng.2354 · Cited by 1,737
Genetic Investigation of ANthropometric Traits (GIANT) Consortium, Yang, J., DIAbetes Genetics Replication And Meta-analysis (DIAGRAM) Consortium, Ferreira, T., Morris, A. P., Medland, S. E., Madden, P. A. F., Heath, A. C., Martin, N. G., Montgomery, G. W., et al. (2012) · Nature Genetics · doi:10.1038/ng.2213 · Cited by 1,712
Integrated Systems Approach Identifies Genetic Nodes and Networks in Late-Onset Alzheimer’s Disease
Zhang, B., Gaiteri, C., Bodea, L.-G., Wang, Z., McElwee, J., Podtelezhnikov, A. A., Zhang, C., Xie, T., Tran, L., Dobrin, R., et al. (2013) · Cell · doi:10.1016/j.cell.2013.03.030 · Cited by 1,657
Amyloid imaging results from the Australian Imaging, Biomarkers and Lifestyle (AIBL) study of aging
Rowe, C. C., Ellis, K. A., Rimajova, M., Bourgeat, P., Pike, K. E., Jones, G., Fripp, J., Tochon-Danguy, H., Morandeau, L., O'Keefe, G., et al. (2010) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2010.04.007 · Cited by 986
APOE predicts amyloid‐beta but not tau Alzheimer pathology in cognitively normal aging
Morris, J. C., Roe, C. M., Xiong, C., Fagan, A. M., Goate, A. M., Holtzman, D. M., & Mintun, M. A. (2010) · Annals of Neurology · doi:10.1002/ana.21843 · Cited by 830
Self-citationUpregulated function of mitochondria‐associated ER membranes in Alzheimer disease
Area‐Gomez, E., del Carmen Lara Castillo, M., Tambini, M. D., Guardia‐Laguarta, C., de Groof, A. J. C., Madra, M., Ikenouchi, J., Umeda, M., Bird, T. D., Sturley, S. L., et al. (2012) · The EMBO Journal · doi:10.1038/emboj.2012.202 · Cited by 638
Methylomic profiling implicates cortical deregulation of ANK1 in Alzheimer's disease
Lunnon, K., Smith, R., Hannon, E., De Jager, P. L., Srivastava, G., Volta, M., Troakes, C., Al-Sarraj, S., Burrage, J., Macdonald, R., et al. (2014) · Nature Neuroscience · doi:10.1038/nn.3782 · Cited by 574
A more accurate method for colocalisation analysis allowing for multiple causal variants
Wallace, C. (2021) · PLOS Genetics · doi:10.1371/journal.pgen.1009440 · Cited by 567
Schwartzentruber, J., Cooper, S., Liu, J. Z., Barrio-Hernandez, I., Bello, E., Kumasaka, N., Young, A. M. H., Franklin, R. J. M., Johnson, T., Estrada, K., et al. (2021) · Nature Genetics · doi:10.1038/s41588-020-00776-w · Cited by 532
Clusterin in Alzheimer’s Disease: Mechanisms, Genetics, and Lessons From Other Pathologies
Foster, E. M., Dangla-Valls, A., Lovestone, S., Ribe, E. M., & Buckley, N. J. (2019) · Frontiers in Neuroscience · doi:10.3389/fnins.2019.00164 · Cited by 381
TREM2 Acts Downstream of CD33 in Modulating Microglial Pathology in Alzheimer's Disease
Griciuc, A., Patel, S., Federico, A. N., Choi, S. H., Innes, B. J., Oram, M. K., Cereghetti, G., McGinty, D., Anselmo, A., Sadreyev, R. I., et al. (2019) · Neuron · doi:10.1016/j.neuron.2019.06.010 · Cited by 378
The MS4A gene cluster is a key modulator of soluble TREM2 and Alzheimer’s disease risk
Deming, Y., Filipello, F., Cignarella, F., Cantoni, C., Hsu, S., Mikesell, R., Li, Z., Del-Aguila, J. L., Dube, U., Farias, F. G., et al. (2019) · Science Translational Medicine · doi:10.1126/scitranslmed.aau2291 · Cited by 271
Self-citationBrouwers, N., Van Cauwenberghe, C., Engelborghs, S., Lambert, J.-C., Bettens, K., Le Bastard, N., Pasquier, F., Montoya, A. G., Peeters, K., Mattheijssens, M., et al. (2012) · Molecular Psychiatry · doi:10.1038/mp.2011.24 · Cited by 227
Cholesterol and Alzheimer’s Disease; From Risk Genes to Pathological Effects
Feringa, F. M., & van der Kant, R. (2021) · Frontiers in Aging Neuroscience · doi:10.3389/fnagi.2021.690372 · Cited by 226
APOE ε2 is associated with milder clinical and pathological Alzheimer disease
Serrano‐Pozo, A., Qian, J., Monsell, S. E., Betensky, R. A., & Hyman, B. T. (2015) · Annals of Neurology · doi:10.1002/ana.24369 · Cited by 176 · cited 1×
“Contrarily, APOE ε2 carriers, showing reduced Aβ deposition [53], have been associated with milder clinical and pathological AD when compared to ε4 carriers [54].”
BackgroundFonseca, M. I., Chu, S., Pierce, A. L., Brubaker, W. D., Hauhart, R. E., Mastroeni, D., Clarke, E. V., Rogers, J., Atkinson, J. P., & Tenner, A. J. (2016) · PLOS ONE · doi:10.1371/journal.pone.0149792 · Cited by 87
Sullivan, S. E., Liao, M., Smith, R. V., White, C., Lagomarsino, V. N., Xu, J., Taga, M., Bennett, D. A., De Jager, P. L., & Young-Pearse, T. L. (2019) · Human Molecular Genetics · doi:10.1093/hmg/ddy376 · Cited by 44
Flagged first, then by citations
Research works printed but not linked: 67
- Gatz M, Reynolds CA, Fratiglioni L, Johansson B, Mortimer JA, Berg S et al (2006) Role of genes and environments for explaining Alzheimer disease. Arch Gen Psych United States 63:168–174 · DOI · Paper page
- Kunkle BW, Grenier-Boley B, Sims R, Bis JC, Damotte V, Naj AC et al (2019) Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing. Nat Genet [Internet]. 51:414–430. https://doi.org/10.1038/s41588-019-0358-2 · DOI · Paper page
- 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 [Internet]. 54:412–436. https://doi.org/10.1038/s41588-022-01024-z · DOI · Paper page
- Ridge PG, Hoyt KB, Boehme K, Mukherjee S, Crane PK, Haines JL et al (2016) Assessment of the genetic variance of late-onset Alzheimer’s disease. Neurobiol Aging 41:200.e13-200.e20 · DOI · Paper page
- Jack CRJ, Therneau TM, Wiste HJ, Weigand SD, Knopman DS, Lowe VJ et al (2016) Transition rates between amyloid and neurodegeneration biomarker states and to dementia: a population-based, longitudinal cohort study. Lancet Neurol 15:56–64 · DOI · Paper page
- Burnham SC, Bourgeat P, Doré V, Savage G, Brown B, Laws S et al (2016) Clinical and cognitive trajectories in cognitively healthy elderly individuals with suspected non-Alzheimer’s disease pathophysiology (SNAP) or Alzheimer’s disease pathology: a longitudinal study. Lancet Neurol England 15:1044–1053 · DOI · Paper page
- Sturchio A, Dwivedi AK, Young CB, Malm T, Marsili L, Sharma JS et al (2021) High cerebrospinal amyloid-β 42 is associated with normal cognition in individuals with brain amyloidosis. EClinicalMedicine 38:100988 · DOI
- Yan Q, Nho K, Del-Aguila J, Wang X, Risacher S, Fan K, et al. (2021) Genome-wide association study of brain amyloid deposition as measured by Pittsburgh Compound-B (PiB)-PET imaging. Mol Psychiatry [Internet]. Mol Psychiatry, 26:309–321. Available from: https://pubmed.ncbi.nlm.nih.gov/30361487/ · DOI · Paper page
- Camus V, Payoux P, Barré L, Desgranges B, Voisin T, Tauber C et al (2012) Using PET with 18F-AV-45 (florbetapir) to quantify brain amyloid load in a clinical environment. Eur J Nucl Med Mol Imaging 39:621–631 · DOI
- Vacher M, Porter T, Villemagne VL, Milicic L, Peretti M, Fowler C et al (2019) Validation of a priori candidate Alzheimer’s disease SNPs with brain amyloid-beta deposition. Sci Rep [Internet]. 9:17069. https://doi.org/10.1038/s41598-019-53604-5 · DOI · Paper page
- Li J, Zhang Q, Chen F, Yan J, Kim S, Wang L et al (2015) Genetic interactions explain variance in cingulate amyloid burden: an AV-45 PET genome-wide association and interaction study in the ADNI cohort. Biomed Res Int 2015:647389
- Raghavan NS, Dumitrescu L, Mormino E, Mahoney ER, Lee AJ, Gao Y et al (2020) Association between common variants in RBFOX1, an RNA-binding protein, and brain amyloidosis in early and preclinical alzheimer disease. JAMA Neurol [Internet]. 77:1288–1298. https://doi.org/10.1001/jamaneurol.2020.1760 · DOI
- Deming Y, Li Z, Kapoor M, Harari O, Del-Aguila JL, Black K et al (2017) Genome-wide association study identifies four novel loci associated with Alzheimer’s endophenotypes and disease modifiers. Acta Neuropathol. https://doi.org/10.1007/s00401-017-1685-y · DOI · Paper page
- Swaminathan S, Shen L, Risacher SL, Yoder KK, West JD, Kim S et al (2012) Amyloid pathway-based candidate gene analysis of [(11)C]PiB-PET in the Alzheimer’s Disease Neuroimaging Initiative (ADNI) cohort. Brain Imaging Behav 6:1–15 · DOI
- Prescott JW, Doraiswamy PM, Gamberger D, Benzinger T, Petrella JR (2021) Diffusion Tensor MRI Structural Connectivity and PET Amyloid Burden in Preclinical Autosomal Dominant Alzheimer Disease: The DIAN Cohort. Radiology 302:143–150. https://doi.org/10.1148/radiol.2021210383 · DOI
- Sperling RA, Rentz DM, Johnson KA, Karlawish J, Donohue M, Salmon DP et al (2014) The A4 study: stopping AD before symptoms begin? Sci Transl Med. 6:228fs13 · DOI
- Dagley A, LaPoint M, Huijbers W, Hedden T, McLaren DG, Chatwal JP et al (2017) Harvard aging brain study: dataset and accessibility. Neuroimage 144:255–258 · DOI
- Mathis CA, Kuller LH, Klunk WE, Snitz BE, Price JC, Weissfeld LA et al (2013) In vivo assessment of amyloid-β deposition in nondemented very elderly subjects. Ann Neurol 73:751–761 · DOI · Paper page
- Gallet Q, Bouteloup V, Locatelli M, Habert M-O, Chupin M, Delrieu J et al (2022) Benzodiazepine use and neuroimaging markers of Alzheimer’s disease in nondemented older individuals: an MRI and 18F Florbetapir PET study in the MEMENTO cohort. Neuropsychopharmacology 47:1114–1420. https://doi.org/10.1038/s41386-021-01246-5 · DOI
- Ramanan VK, Wang X, Przybelski SA, Raghavan S, Heckman MG, Batzler A et al (2020) Variants in PPP2R2B and IGF2BP3 are associated with higher tau deposition. Brain Commun. 2:fcc159. https://doi.org/10.1093/braincomms/fcaa159 · DOI
- Johnson SC, Koscik RL, Jonaitis EM, Clark LR, Mueller KD, Berman SE et al (2018) The wisconsin registry for alzheimer’s prevention: a review of findings and current directions. Alzheimer’s Dement (Amsterdam, Netherlands) 10:130–142
- Ossenkoppele R, Madison C, Oh H, Wirth M, van Berckel BNM, Jagust WJ (2014) Is verbal episodic memory in elderly with amyloid deposits preserved through altered neuronal function? Cereb Cortex 24:2210–2218 · DOI
- Kim H-R, Jung S-H, Kim J, Jang H, Kang SH, Hwangbo S et al (2021) Identifying novel genetic variants for brain amyloid deposition: a genome-wide association study in the Korean population. Alzheimers Res Ther. 13:117. https://doi.org/10.1186/s13195-021-00854-z · DOI
- Gonzales MM, Samra J, O’Donnell A, Mackin RS, Salinas J, Jacob ME et al (2021) Association of midlife depressive symptoms with regional amyloid-β and tau in the framingham heart study. J Alzheimers Dis 82:249–260 · DOI
- Loh P-R, Danecek P, Palamara PF, Fuchsberger C, A Reshef Y, K Finucane H et al (2016) Reference-based phasing using the Haplotype Reference Consortium panel. Nat Genet 48:1443–1448. https://doi.org/10.1038/ng.3679 · DOI · Paper page
- Chang CC, Chow CC, Tellier LCAM, Vattikuti S, Purcell SM, Lee JJ (2015) Second-generation PLINK: Rising to the challenge of larger and richer datasets. Gigascience. https://doi.org/10.1186/s13742-015-0047-8 · DOI · Paper page
- Willer CJ, Li Y, Abecasis GR (2010) METAL: fast and efficient meta-analysis of genomewide association scans. Bioinformatics 26:2190–2191 · DOI · Paper page
- Skol AD, Scott LJ, Abecasis GR, Boehnke M (2006) Joint analysis is more efficient than replication-based analysis for two-stage genome-wide association studies. Nat Genet. 38:209–213. https://doi.org/10.1038/ng1706 · DOI · Paper page
- Ma C, Blackwell T, Boehnke M, Scott LJ (2013) Recommended joint and meta-analysis strategies for case-control association testing of single low-count variants. Genet Epidemiol 37:539–550 · DOI
- Teissier M, Sanchez MP, Boussaha M, Barbat A, Hoze C, Robert-Granie C, et al. (2018) Use of meta-analyses and joint analyses to select variants in whole genome sequences for genomic evaluation: An application in milk production of French dairy cattle breeds. J Dairy Sci [Internet]. 101:3126–3139. https://www.sciencedirect.com/science/article/pii/S0022030218300857 · DOI
- Lu Q, Li B, Ou D, Erlendsdottir M, Powles RL, Jiang T et al (2017) A powerful approach to estimating annotation-stratified genetic covariance via GWAS summary statistics. Am J Hum Genet 101:939–964 · DOI
- Euesden J, Lewis CM, O’Reilly PF (2015) PRSice: polygenic risk score software. Bioinformatics 31:1466–1468 · DOI
- Lonsdale J, Thomas J, Salvatore M, Phillips R, Lo E, Shad S et al (2013) The genotype-tissue expression (GTEx) project. Nat Genet. 45:580–585. https://doi.org/10.1038/ng.2653 · DOI · Paper page
- Yan Y, Zhao A, Qui Y, Li Y, Yan R, Wang Y, et al. (2020) Genetic Association of FERMT2, HLA-DRB1, CD2AP, and PTK2B Polymorphisms With Alzheimer’s Disease Risk in the Southern Chinese Population. Front Aging Neurosci. 12. Available from: https://www.frontiersin.org/articles/https://doi.org/10.3389/fnagi.2020.00016 · DOI
- Greenwood AK, Gockley J, Daily K, Aluthgamage D, Leanza Z, Sieberts SK et al (2020) Agora: An open platform for exploration of Alzheimer’s disease evidence. Alzheimer’s Dement 16:e046129. https://doi.org/10.1002/alz.046129 · DOI
- Sakae N, Liu C-C, Shinohara M, Frisch-Daiello J, Ma L, Yamazaki Y et al (2016) ABCA7 deficiency accelerates amyloid-β generation and alzheimer’s neuronal pathology. J Neurosci Off J Soc Neurosci 36:3848–3859 · DOI
- Logge W, Cheng D, Chesworth R, Bhatia S, Garner B, Kim WS et al (2012) Role of Abca7 in mouse behaviours relevant to neurodegenerative diseases. PLoS ONE 7:e45959 · DOI
- De Roeck A, Van Broeckhoven C, Sleegers K (2019) The role of ABCA7 in Alzheimer’s disease: evidence from genomics, transcriptomics and methylomics. Acta Neuropathol 138:201–220 · DOI · Paper page
- 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 87:489–496 · DOI · Paper page
- Lamar M, Yu L, Rubin LH, James BD, Barnes LL, Farfel JM et al (2019) APOE genotypes as a risk factor for age-dependent accumulation of cerebrovascular disease in older adults. Alzheimer’s Dement 15:258–266. https://doi.org/10.1016/j.jalz.2018.08.007 · DOI · Paper page
- Li Z, Shue F, Zhao N, Shinohara M, Bu G (2020) APOE2: protective mechanism and therapeutic implications for Alzheimer’s disease. Mol Neurodegener 15:63 · DOI · Paper page
- McLaren W, Gil L, Hunt SE, Riat HS, Ritchie GRS, Thormann A et al (2016) The Ensembl Variant Effect Predictor. Genome Biol 17:122. https://doi.org/10.1186/s13059-016-0974-4 · DOI · Paper page
- Dumitrescu L, Mahoney ER, Mukherjee S, Lee ML, Bush WS, Engelman CD et al (2020) Genetic variants and functional pathways associated with resilience to Alzheimer’s disease. Brain 143:2561–2575. https://doi.org/10.1093/brain/awaa209 · DOI
- Shen L, Kim S, Risacher SL, Nho K, Swaminathan S, West JD et al (2010) Whole genome association study of brain-wide imaging phenotypes for identifying quantitative trait loci in MCI and AD: A study of the ADNI cohort. Neuroimage 53:1051–1063 · DOI
- Ferencz B, Laukka EJ, Lövdén M, Kalpouzos G, Keller L, Graff C et al (2013) The influence of APOE and TOMM40 polymorphisms on hippocampal volume and episodic memory in old age. Front Hum Neurosci 7:198 · DOI
- Siddarth P, Burggren AC, Merrill DA, Ercoli LM, Mahmood Z, Barrio JR et al (2018) Longer TOMM40 poly-T variants associated with higher FDDNP-PET medial temporal tau and amyloid binding. PLoS ONE 13:e0208358 · DOI
- Cruchaga C, Nowotny P, Kauwe JSK, Ridge PG, Mayo K, Bertelsen S et al (2011) Association and expression analyses with single-nucleotide polymorphisms in TOMM40 in Alzheimer disease. Arch Neurol United States 68:1013–1019 · DOI
- Oatman SR, Reddy JS, Quicksall Z, Carrasquillo MM, Wang X, Liu C-C et al (2023) Genome-wide association study of brain biochemical phenotypes reveals distinct genetic architecture of Alzheimer’s disease related proteins. Mol Neurodegener. 18:2. https://doi.org/10.1186/s13024-022-00592-2 · DOI
- Seshadri S, Fitzpatrick AL, Ikram MA, DeStefano AL, Gudnason V, Boada M et al (2010) Genome-wide analysis of genetic loci associated with Alzheimer disease. JAMA United States 303:1832–1840
- Cruchaga C, Kauwe JSK, Harari O, Jin SC, Cai Y, Karch CM et al (2013) GWAS of cerebrospinal fluid tau levels identifies risk variants for Alzheimer’s disease. Neuron United States 78:256–268 · DOI · Paper page
- Mafimoghaddam S, Wang L, Gorijala P, Timsina J, Nykanen N, Wang F et al (2022) GWAS for CSF TREM2 levels identify new variants implicated on TREM2 biology and Alzheimer disease. Alzheimer’s Dement 18:e062517. https://doi.org/10.1002/alz.062517 · DOI
- Arboleda-Velasquez JF, Lopera F, O’Hare M, Delgado-Tirado S, Marino C, Chmielewska N et al (2019) Resistance to autosomal dominant Alzheimer’s disease in an APOE3 Christchurch homozygote: a case report. Nat Med. 25:1680–1683. https://doi.org/10.1038/s41591-019-0611-3 · DOI · Paper page
- Nho K, Kim S, Horgusluoglu E, Risacher SL, Shen L, Kim D et al (2017) Association analysis of rare variants near the APOE region with CSF and neuroimaging biomarkers of Alzheimer’s disease. BMC Med Genomics 10:29 · DOI
- Farrer LA, Cupples LA, Haines JL, Hyman B, Kukull WA, Mayeux R et al (1997) Effects of age, sex, and ethnicity on the association between apolipoprotein E genotype and Alzheimer disease. A meta-analysis. APOE and Alzheimer Disease Meta Analysis Consortium. JAMA 278(16):1349–1356. https://doi.org/10.1001/jama.1997.03550160069041 · DOI · Paper page
- van Dyck CH, Swanson CJ, Aisen P, Bateman RJ, Chen C, Gee M et al (2022) Lecanemab in Early Alzheimer’s Disease. N Engl J Med. https://doi.org/10.1056/NEJMoa2212948 · DOI · Paper page
- Steinberg S, Stefansson H, Jonsson T, Johannsdottir H, Ingason A, Helgason H et al (2015) Loss-of-function variants in ABCA7 confer risk of Alzheimer’s disease. Nat Genet. 47:445–457. https://doi.org/10.1038/ng.3246 · DOI · Paper page
- Vasquez JB, Fardo DW, Estus S (2013) ABCA7 expression is associated with Alzheimer’s disease polymorphism and disease status. Neurosci Lett 556:58–62 · DOI · Paper page
- 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 18:1225–1234 · DOI · Paper page
- Jonsson T, Stefansson H, Steinberg S, Jonsdottir I, Jonsson PV, Snaedal J et al (2013) Variant of TREM2 associated with the risk of Alzheimer’s disease. N Engl J Med 368:107–116 · DOI · Paper page
- Guerreiro R, Wojtas A, Bras J, Carrasquillo M, Rogaeva E, Majounie E, et al. (2012) TREM2 variants in Alzheimer’s disease. N Engl J Med, 368:117–127 https://pubmed.ncbi.nlm.nih.gov/23150934 · DOI · Paper page
- Hayashi M, Abe-Dohmae S, Okazaki M, Ueda K, Yokoyama S (2005) Heterogeneity of high density lipoprotein generated by ABCA1 and ABCA7. J Lipid Res United States 46:1703–1711 · DOI
- Gu M-L, Zhou X-X, Ren M-T, Shi K-D, Yu M-S, Jiao W-R et al (2020) Blockage of ETS homologous factor inhibits the proliferation and invasion of gastric cancer cells through the c-Met pathway. World J Gastroenterol United States 26:7497–7512 · DOI
- Smith CD, Van Eldik LJ, Jicha GA, Schmitt FA, Nelson PT, Abner EL et al (2020) Brain structure changes over time in normal and mildly impaired aged persons. AIMS Neurosci 7:120–135 · DOI
- Akiyama H, Barger S, Barnum S, Bradt B, Bauer J, Cole GM et al (2000) Inflammation and Alzheimer’s disease. Neurobiol Aging United States 21:383–421 · DOI · Paper page
- Griciuc A, Tanzi RE (2021) The role of innate immune genes in Alzheimer’s disease. Curr Opin Neurol [Internet]. 34. Available from: https://journals.lww.com/co-neurology/Fulltext/2021/04000/The_role_of_innate_immune_genes_in_Alzheimer_s.13.aspx · DOI
- Zhao L (2019) CD33 in Alzheimer’s Disease – biology, pathogenesis, and therapeutics: a mini-review. Gerontology 65:323–331. https://doi.org/10.1159/000492596 · DOI
- Benitez BA, Cruchaga C (2013) TREM2 and neurodegenerative disease. N Engl J Med 369(16):1567–1568. https://doi.org/10.1056/NEJMc1306509 · DOI
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Self-citationAssociation of APOC1 with cortical atrophy during conversion to Alzheimer’s disease
Oh, S., Kim, S., Kim, J. P., Seo, S. W., Park, B.-Y., & Park, H. (2025) · GeroScience · doi:10.1007/s11357-025-01695-6 · Cited by 4
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Metadata
- Authors
- Ali, M., Archer, D. B., Gorijala, P., Western, D., Timsina, J., Fernández, M. V., Wang, T.-C., Satizabal, C. L., Yang, Q., Beiser, A. S., Wang, R., Chen, G., Gordon, B., Benzinger, T. L. S., Xiong, C., Morris, J. C., Bateman, R. J., Karch, C. M., McDade, E., Goate, A., Seshadri, S., Mayeux, R. P., Sperling, R. A., Buckley, R. F., Johnson, K. A., Won, H.-H., Jung, S.-H., Kim, H.-R., Seo, S. W., Kim, H. J., Mormino, E., Laws, S. M., Fan, K.-H., Kamboh, M. I., Vemuri, P., Ramanan, V. K., Yang, H.-S., Wenzel, A., Rajula, H. S. R., Mishra, A., Dufouil, C., Debette, S., Lopez, O. L., DeKosky, S. T., Tao, F., Nagle, M. W., Knight Alzheimer Disease Research Center (Knight ADRC), the Dominantly Inherited Alzheimer Network (DIAN), (ADNI), A. D. N. I., ADNI-DOD, A. S. T., the Australian Imaging Biomarkers, L. (. S., Hohman, T. J., Sung, Y. J., Dumitrescu, L., & Cruchaga, C.
- ORCID
- Cruchaga, Carlos
- Venue
- Acta Neuropathologica Communications
- Published
- 2023-04-26
- Volume
- 11
- Issue
- 1
- ISSN
- 2051-5960
- PMC
- PMC10134547
- Cited by
- 54
- References
- 21
- Language
- en
- Funders
- National Institutes of Health (R01AG044546 (CC), P01AG003991(CC, JCM), RF1AG053303 (CC), RF1AG058501 (CC), U01AG058922 (CC))
- Michael J. Fox Foundation for Parkinson's Research
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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