GWAS of multiple neuropathology endophenotypes identifies new risk loci and provides insights into the genetic risk of dementia
Open accessAbstract
Genome-wide association studies (GWAS) have identified >80 Alzheimer's disease and related dementias (ADRD)-associated genetic loci. However, the clinical outcomes used in most previous studies belie the complex nature of underlying neuropathologies. Here we performed GWAS on 11 ADRD-related neuropathology endophenotypes with participants drawn from the following three sources: the National Alzheimer's Coordinating Center, the Religious Orders Study and Rush Memory and Aging Project, and the Adult Changes in Thought study (n = 7,804 total autopsied participants). We identified eight independent significantly associated loci, of which four were new (COL4A1, PIK3R5, LZTS1 and APOC2). Separately testing known ADRD loci, 19 loci were significantly associated with at least one neuropathology after false-discovery rate adjustment. Genetic colocalization analyses identified pleiotropic effects and quantitative trait loci. Methylation in the cerebral cortex at two sites near APOC2 was associated with cerebral amyloid angiopathy. Studies that include neuropathology endophenotypes are an important step in understanding the mechanisms underlying genetic ADRD risk.
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
Variants involved in resilience and resistance to disease establishment and progression can also be distinct.
“Moreover, variants involved in resilience and resistance to disease establishment and progression can also be distinct [8].”
From Genetic drivers of progression in Alzheimer’s disease are distinct from disease risk (2026) · cites this paper as [8]
The Discussion (page unavailable) reports that some loci associated with clinical Alzheimer’s disease were not associated with its defining neuropathologies, supporting the narrower point that genetic associations can differ by outcome. The paper does not identify variants for resilience despite pathology or compare them with variants affecting disease establishment and progression. (LLM, conf=0.77)
Experimental — accuracy not yet measuredSeveral ADRD loci were significantly associated with non-AD NPEs but not with AD NPEs.
“several ADRD loci were significantly associated with non-AD NPEs, but not with AD NPEs (Supplementary Table 14)17.”
From Consensus meta-analysis of genome-wide association studies for Alzheimer’s disease and related dementias (2026) · cites this paper as [17]
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Cites
Controlling the False Discovery Rate: A Practical and Powerful Approach to Multiple Testing
Benjamini, Y., & Hochberg, Y. (1995) · Journal of the Royal Statistical Society Series B: Statistical Methodology · doi:10.1111/j.2517-6161.1995.tb02031.x · Cited by 109,482 · see citing works
Neuropathological stageing of Alzheimer-related changes.
Braak, H., & Braak, E. (1991) · Acta Neuropathologica · doi:10.1007/bf00308809 · Cited by 16,123 · see citing works
Twelve years of SAMtools and BCFtools
Danecek, P., Bonfield, J., Liddle, J., Marshall, J., Ohan, V., Pollard, M., Whitwham, A., Keane, T., McCarthy, S., Davies, R. M., et al. (2021) · GigaScience · doi:10.1093/gigascience/giab008 · Cited by 15,314 · see citing works
Second-generation PLINK: rising to the challenge of larger and richer datasets
Chang, C. C., Chow, C. C., Tellier, L. C., Vattikuti, S., Purcell, S. M., & Lee, J. J. (2015) · Gigascience · doi:10.1186/s13742-015-0047-8 · Cited by 12,709 · see citing works
Wickham, H. (2016) · Use R! · doi:10.1007/978-3-319-24277-4_9 · Cited by 12,675 · see citing works
Molecular signatures database (MSigDB) 3.0
Liberzon, A., Subramanian, A., Pinchback, R., Thorvaldsdóttir, H., Tamayo, P., & Mesirov, J. P. (2011) · Bioinformatics · doi:10.1093/bioinformatics/btr260 · Cited by 7,111 · see citing works
Li, H. (2011) · Bioinformatics · doi:10.1093/bioinformatics/btr509 · Cited by 6,283 · see citing works
METAL: fast and efficient meta-analysis of genomewide association scans
Willer, C. J., Li, Y., & Abecasis, G. R. (2010) · Bioinformatics · doi:10.1093/bioinformatics/btq340 · Cited by 5,205 · see citing works
Mirra, S. S., Heyman, A., McKeel, D., Sumi, S. M., Crain, B. J., Brownlee, L. M., Vogel, F. S., Hughes, J. P., Belle, G. V., Berg, L., et al. (1991) · Neurology · doi:10.1212/wnl.41.4.479 · Cited by 4,961 · see citing works
Zhang, Y., Chen, K., Sloan, S. A., Bennett, M. L., Scholze, A. R., O'Keeffe, S., Phatnani, H. P., Guarnieri, P., Caneda, C., Ruderisch, N., et al. (2014) · The Journal of Neuroscience · doi:10.1523/jneurosci.1860-14.2014 · Cited by 4,875 · cited 2× · see citing works
“BIN1 is also expressed in multiple brain cell types in humans, according to brainrnaseq.org 35,36 .”
Giambartolomei, C., Vukcevic, D., Schadt, E. E., Franke, L., Hingorani, A. D., Wallace, C., & Plagnol, V. (2014) · PLoS Genetics · doi:10.1371/journal.pgen.1004383 · Cited by 4,261 · see citing works
Next-generation genotype imputation service and methods
Das, S., Forer, L., Schönherr, S., Sidore, C., Locke, A. E., Kwong, A., Vrieze, S. I., Chew, E. Y., Levy, S., McGue, M., et al. (2016) · Nature Genetics · doi:10.1038/ng.3656 · Cited by 4,190 · see citing works
Functional mapping and annotation of genetic associations with FUMA
Watanabe, K., Taskesen, E., van Bochoven, A., & Posthuma, D. (2017) · Nature Communications · doi:10.1038/s41467-017-01261-5 · Cited by 4,083 · see citing works
Genetic effects on gene expression across human tissues
GTEx Consortium (2017) · Nature · doi:10.1038/nature24277 · Cited by 4,036 · see citing works
MAGMA: Generalized Gene-Set Analysis of GWAS Data
de Leeuw, C. A., Mooij, J. M., Heskes, T., & Posthuma, D. (2015) · PLOS Computational Biology · doi:10.1371/journal.pcbi.1004219 · Cited by 3,653 · see citing works
Robust relationship inference in genome-wide association studies
Manichaikul, A., Mychaleckyj, J. C., Rich, S. S., Daly, K., Sale, M., & Chen, W.-M. (2010) · Bioinformatics · doi:10.1093/bioinformatics/btq559 · Cited by 3,541 · see citing works
Montine, T. J., Phelps, C. H., Beach, T. G., Bigio, E. H., Cairns, N. J., Dickson, D. W., Duyckaerts, C., Frosch, M. P., Masliah, E., Mirra, S. S., et al. (2012) · Acta Neuropathologica · doi:10.1007/s00401-011-0910-3 · Cited by 2,992 · cited 1× · see citing works
“…including diffuse plaques and Braak NFT staging 28–30 ), non-AD neurodegenerative pro-teinopathies (LATE-NC and Lewy bodies 12,31 ), cerebrovascular pathologies (CAA, gross infarcts, microinfarcts, circle of Willis atherosclerosis and arteriolosclerosis 30,32 ) and hippocampal sclerosis 32 .”
Self-citationAlzheimer Disease Genetics Consortium (ADGC), Kunkle, B. W., The European Alzheimer’s Disease Initiative (EADI), Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium (CHARGE), Genetic and Environmental Risk in AD/Defining Genetic, P. A. E. R. F. A. D. C. (., Grenier-Boley, B., Sims, R., Bis, J. C., Damotte, V., Naj, A. C., et al. (2019) · Nature Genetics · doi:10.1038/s41588-019-0358-2 · Cited by 2,946 · see citing works
Self-citationLocusZoom: regional visualization of genome-wide association scan results
Pruim, R. J., Welch, R. P., Sanna, S., Teslovich, T. M., Chines, P. S., Gliedt, T. P., Boehnke, M., Abecasis, G. R., & Willer, C. J. (2010) · Bioinformatics · doi:10.1093/bioinformatics/btq419 · Cited by 2,707 · see citing works
A high-performance computing toolset for relatedness and principal component analysis of SNP data
Zheng, X., Levine, D., Shen, J., Gogarten, S. M., Laurie, C. C., & Weir, B. S. (2012) · Bioinformatics · doi:10.1093/bioinformatics/bts606 · Cited by 2,541 · see citing works
New insights into the genetic etiology of Alzheimer’s disease and related dementias
Bellenguez, C., Küçükali, F., Jansen, I. E., Kleineidam, L., Moreno-Grau, S., Amin, N., Naj, A. C., Campos-Martin, R., Grenier-Boley, B., Andrade, V., et al. (2022) · Nature Genetics · doi:10.1038/s41588-022-01024-z · Cited by 2,498 · see citing works
Self-citationDetection of nonneutral substitution rates on mammalian phylogenies
Pollard, K. S., Hubisz, M. J., Rosenbloom, K. R., & Siepel, A. (2010) · Genome Research · doi:10.1101/gr.097857.109 · Cited by 2,353 · see citing works
Zhang, Y., Sloan, S. A., Clarke, L. E., Caneda, C., Plaza, C. A., Blumenthal, P. D., Vogel, H., Steinberg, G. K., Edwards, M. S. B., Li, G., et al. (2016) · Neuron · doi:10.1016/j.neuron.2015.11.013 · Cited by 2,295 · see citing works
Self-citationJansen, 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 · see citing works
Self-citationSequencing of 53,831 diverse genomes from the NHLBI TOPMed Program
Taliun, D., Harris, D. N., Kessler, M. D., Carlson, J., Szpiech, Z. A., Torres, R., Taliun, S. A. G., Corvelo, A., Gogarten, S. M., Kang, H. M., et al. (2021) · Nature · doi:10.1038/s41586-021-03205-y · Cited by 2,213 · see citing works
Self-citationFast 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 · see citing works
Limbic-predominant age-related TDP-43 encephalopathy (LATE): consensus working group report
Nelson, P. T., Dickson, D. W., Trojanowski, J. Q., Jack, C. R., Boyle, P. A., Arfanakis, K., Rademakers, R., Alafuzoff, I., Attems, J., Brayne, C., et al. (2019) · Brain · doi:10.1093/brain/awz099 · Cited by 1,547 · see citing works
Self-citationZhou, W., Nielsen, J. B., Fritsche, L. G., Dey, R., Gabrielsen, M. E., Wolford, B. N., LeFaive, J., VandeHaar, P., Taliun, S. A. G., Gifford, A., et al. (2018) · Nature Genetics · doi:10.1038/s41588-018-0184-y · Cited by 1,406 · see citing works
Function of alternative splicing
Stamm, S., Ben‐Ari, S., Rafalska, I., Tang, Y., Zhang, Z., Toiber, D., Thanaraj, T. A., & Soreq, H. (2004) · Gene · doi:10.1016/j.gene.2004.10.022 · Cited by 1,373 · see citing works
Religious Orders Study and Rush Memory and Aging Project
Bennett, D. A., Buchman, A. S., Boyle, P. A., Barnes, L. L., Wilson, R. S., & Schneider, J. A. (2018) · Journal of Alzheimer's Disease · doi:10.3233/jad-179939 · Cited by 1,260 · see citing works
Self-citationA simple new approach to variable selection in regression, with application to genetic fine mapping
Wang, G., Sarkar, A., Carbonetto, P., & Stephens, M. (2020) · Journal of the Royal Statistical Society Series B (Statistical Methodology) · doi:10.1111/rssb.12388 · Cited by 1,121 · see citing works
Alternative splicing and evolution: diversification, exon definition and function
Keren, H., Lev-Maor, G., & Ast, G. (2010) · Nature Reviews Genetics · doi:10.1038/nrg2776 · Cited by 1,082 · see citing works
Wightman, D. P., Jansen, I. E., Savage, J. E., Shadrin, A. A., Bahrami, S., Holland, D., Rongve, A., Børte, S., Winsvold, B. S., Drange, O. K., et al. (2021) · Nature Genetics · doi:10.1038/s41588-021-00921-z · Cited by 1,011 · see citing works
Dementia and Alzheimer Disease Incidence: A Prospective Cohort Study
Kukull, W. A., Higdon, R., Bowen, J. D., McCormick, W. C., Teri, L., Schellenberg, G. D., van Belle, G., Jolley, L., & Larson, E. B. (2002) · Archives of Neurology · doi:10.1001/archneur.59.11.1737 · Cited by 806 · see citing works
Self-citationFunction of alternative splicing
Kelemen, O., Convertini, P., Zhang, Z., Wen, Y., Shen, M., Falaleeva, M., & Stamm, S. (2013) · Gene · doi:10.1016/j.gene.2012.07.083 · Cited by 743 · see citing works
The amyloid hypothesis in Alzheimer disease: new insights from new therapeutics
Karran, E., & De Strooper, B. (2022) · Nature Reviews Drug Discovery · doi:10.1038/s41573-022-00391-w · Cited by 742 · see citing works
Neuropathology and Cognitive Impairment in Alzheimer Disease: A Complex but Coherent Relationship
Nelson, P. T., Braak, H., & Markesbery, W. R. (2009) · Journal of Neuropathology & Experimental Neurology · doi:10.1097/nen.0b013e3181919a48 · Cited by 643 · see citing works
A multi-omic atlas of the human frontal cortex for aging and Alzheimer’s disease research
De Jager, P. L., Ma, Y., McCabe, C., Xu, J., Vardarajan, B. N., Felsky, D., Klein, H.-U., White, C. C., Peters, M. A., Lodgson, B., et al. (2018) · Scientific Data · doi:10.1038/sdata.2018.142 · Cited by 598 · see citing works
Self-citationArvanitakis, Z., Capuano, A. W., Leurgans, S. E., Bennett, D. A., & Schneider, J. A. (2016) · The Lancet Neurology · doi:10.1016/s1474-4422(16)30029-1 · Cited by 581 · see citing works
Self-citationDifferent levels of alternative splicing among eukaryotes
Kim, E., Magen, A., & Ast, G. (2006) · Nucleic Acids Research · doi:10.1093/nar/gkl924 · Cited by 545 · see citing works
Role of apoCs in lipoprotein metabolism: functional differences between apoC1, apoC2, and apoC3
Jong, M. C., Hofker, M. H., & Havekes, L. M. (1999) · Arteriosclerosis, Thrombosis, and Vascular Biology · doi:10.1161/01.atv.19.3.472 · Cited by 539 · see citing works
Reiman, E. M., Arboleda-Velasquez, J. F., Quiroz, Y. T., Huentelman, M. J., Beach, T. G., Caselli, R. J., Chen, Y., Su, Y., Myers, A. J., Hardy, J., et al. (2020) · Nature Communications · doi:10.1038/s41467-019-14279-8 · Cited by 473 · see citing works
Self-citationCerebral microinfarcts: the invisible lesions
Smith, E. E., Schneider, J. A., Wardlaw, J. M., & Greenberg, S. M. (2012) · The Lancet Neurology · doi:10.1016/s1474-4422(11)70307-6 · Cited by 456 · see citing works
Self-citationAn xQTL map integrates the genetic architecture of the human brain's transcriptome and epigenome
Ng, B., White, C. C., Klein, H.-U., Sieberts, S. K., McCabe, C., Patrick, E., Xu, J., Yu, L., Gaiteri, C., Bennett, D. A., et al. (2017) · Nature Neuroscience · doi:10.1038/nn.4632 · Cited by 452 · see citing works
Self-citationMyers, T. A., Chanock, S. J., & Machiela, M. J. (2020) · Frontiers in Genetics · doi:10.3389/fgene.2020.00157 · Cited by 429 · see citing works
Conomos, M. P., Miller, M. B., & Thornton, T. A. (2015) · Genetic Epidemiology · doi:10.1002/gepi.21896 · Cited by 416 · see citing works
Hautakangas, H. M., Winsvold, B. S., Ruotsalainen, S., Björnsdóttir, G., Harder, A. V. E., Kogelman, L. J. A., Thomas, L. F., Noordam, R., Benner, C., Gormley, P., et al. (2022) · Nature Genetics · doi:10.1038/s41588-021-00990-0 · Cited by 403 · see citing works
Beecham, G. W., Hamilton, K., Naj, A. C., Martin, E. R., Huentelman, M., Myers, A. J., Corneveaux, J. J., Hardy, J., Vonsattel, J.-P., Younkin, S. G., et al. (2014) · PLoS Genetics · doi:10.1371/journal.pgen.1004606 · Cited by 343 · see citing works
Self-citationSkrobot, O. A., Attems, J., Esiri, M. M., Hortobágyi, T., Ironside, J. W., Kalaria, R. N., King, A., Lammie, G. A., Mann, D. M. A., Neal, J., et al. (2016) · Brain · doi:10.1093/brain/aww214 · Cited by 323 · see citing works
Yu, L., Chibnik, L. B., Srivastava, G. P., Pochet, N., Yang, J., Xu, J., Kozubek, J., Obholzer, N., Leurgans, S. E., Schneider, J. A., et al. (2015) · JAMA Neurology · doi:10.1001/jamaneurol.2014.3049 · Cited by 290 · see citing works
Self-citationAttems, J., Toledo, J. B., Walker, L., Gelpí, E., Gentleman, S., Halliday, G. M., Hortobágyi, T., Jellinger, K. A., Kovács, G. G., Lee, E. B., et al. (2021) · Acta Neuropathologica · doi:10.1007/s00401-020-02255-2 · Cited by 286 · see citing works
Self-citationSNPedia: a wiki supporting personal genome annotation, interpretation and analysis
Cariaso, M., & Lennon, G. (2011) · Nucleic Acids Research · doi:10.1093/nar/gkr798 · Cited by 251 · see citing works
Wolska, A., Dunbar, R. L., Freeman, L. A., Ueda, M., Amar, M. J., Sviridov, D. O., & Remaley, A. T. (2017) · Atherosclerosis · doi:10.1016/j.atherosclerosis.2017.10.025 · Cited by 231 · see citing works
Besser, L. M., Kukull, W. A., Teylan, M. A., Bigio, E. H., Cairns, N. J., Kofler, J. K., Montine, T. J., Schneider, J. A., & Nelson, P. T. (2018) · Journal of Neuropathology & Experimental Neurology · doi:10.1093/jnen/nly049 · Cited by 224 · see citing works
Self-citation<i>APOE</i> ε4 is associated with severity of Lewy body pathology independent of Alzheimer pathology
Dickson, D. W., Heckman, M. G., Murray, M. E., Soto, A. I., Walton, R. L., Diehl, N. N., van Gerpen, J. A., Uitti, R. J., Wszolek, Z. K., Ertekin-Taner, N., et al. (2018) · Neurology · doi:10.1212/wnl.0000000000006212 · Cited by 210 · see citing works
Self-citationGogarten, S. M., Bhangale, T., Conomos, M. P., Laurie, C. A., McHugh, C., Painter, I. S., Zheng, X., Crosslin, D. R., Levine, D., Lumley, T., et al. (2012) · Bioinformatics · doi:10.1093/bioinformatics/bts610 · Cited by 206 · see citing works
Prevalence and clinical phenotype of quadruple misfolded proteins in older adults
Karanth, S., Nelson, P. T., Katsumata, Y., Kryscio, R. J., Schmitt, F. A., Fardo, D. W., Cykowski, M. D., Jicha, G. A., Van Eldik, L. J., & Abner, E. L. (2020) · JAMA Neurology · doi:10.1001/jamaneurol.2020.1741 · Cited by 206 · see citing works
Self-citationBlevins, B. L., Vinters, H. V., Love, S., Wilcock, D. M., Grinberg, L. T., Schneider, J. A., Kalaria, R. N., Katsumata, Y., Gold, B. T., Wang, D. J. J., et al. (2020) · Acta Neuropathologica · doi:10.1007/s00401-020-02235-6 · Cited by 204 · see citing works
Self-citationThe Relationship of Cerebral Vessel Pathology to Brain Microinfarcts
Arvanitakis, Z., Capuano, A. W., Leurgans, S. E., Buchman, A. S., Bennett, D. A. A., & Schneider, J. A. (2016) · Brain Pathology · doi:10.1111/bpa.12365 · Cited by 196 · see citing works
Self-citationNelson, P. T., Brayne, C., Flanagan, M. E., Abner, E. L., Agrawal, S., Attems, J., Castellani, R. J., Corrada, M. M., Cykowski, M. D., Di, J., et al. (2022) · Acta Neuropathologica · doi:10.1007/s00401-022-02444-1 · Cited by 177 · see citing works
Self-citationYang, H., Yu, L., White, C. C., Chibnik, L. B., Chhatwal, J. P., Sperling, R. A., Bennett, D., Schneider, J. A., & Jager, P. L. D. (2018) · The Lancet Neurology · doi:10.1016/s1474-4422(18)30251-5 · Cited by 145 · see citing works
Self-citationHoller, C. J., Davis, P. R., Beckett, T. L., Platt, T. L., Webb, R. L., Head, E., & Murphy, M. P. (2014) · Journal of Alzheimer’s Disease · doi:10.3233/jad-132450 · Cited by 145 · see citing works
Self-citationZhou, H., Arapoglou, T., Li, X., Li, Z., Zheng, X., Moore, J. E., Asok, A., Kumar, S., Blue, E., Buyske, S. G., et al. (2022) · Nucleic Acids Research · doi:10.1093/nar/gkac966 · Cited by 142 · see citing works
The evolution of Alzheimer's disease‐related cytoskeletal pathology in the human raphe nuclei
Rüb, U., Tredici, K. D., Schultz, C., Thal, D. R., Braak, E., & Braak, H. (2000) · Neuropathology and Applied Neurobiology · doi:10.1046/j.0305-1846.2000.00291.x · Cited by 134 · see citing works
Arteriolosclerosis that affects multiple brain regions is linked to hippocampal sclerosis of ageing
Neltner, J. H., Abner, E. L., Baker, S., Schmitt, F. A., Kryscio, R. J., Jicha, G. A., Smith, C. D., Hammack, E., Kukull, W. A., Brenowitz, W. D., et al. (2013) · Brain · doi:10.1093/brain/awt318 · Cited by 130 · see citing works
Self-citationMattioli, C. C., Rom, A., Franke, V., Imami, K., Arrey, G., Terne, M., Woehler, A., Akalin, A., Ulitsky, I., & Chekulaeva, M. (2018) · Nucleic Acids Research · doi:10.1093/nar/gky1270 · Cited by 125 · see citing works
Impact of sex and APOE4 on cerebral amyloid angiopathy in Alzheimer’s disease
Shinohara, M., Murray, M. E., Frank, R. D., Shinohara, M., DeTure, M., Yamazaki, Y., Tachibana, M., Atagi, Y., Davis, M. D., Liu, C.-C., et al. (2016) · Acta Neuropathologica · doi:10.1007/s00401-016-1580-y · Cited by 123 · see citing works
Self-citationGenome-wide association studies for Alzheimer’s disease: bigger is not always better
Escott-Price, V., & Hardy, J. (2022) · Brain Communications · doi:10.1093/braincomms/fcac125 · Cited by 119 · see citing works
Self-citationThe BIN1 rs744373 SNP is associated with increased tau-PET levels and impaired memory
Franzmeier, N., Rubinski, A., Neitzel, J., Ewers, M., (ADNI), T. A. D. N. I., Weiner, M. W., Aisen, P., Petersen, R., Jack, C. R., Jagust, W., et al. (2019) · Nature Communications · doi:10.1038/s41467-019-09564-5 · Cited by 109 · see citing works
Self-citationBrenowitz, W. D., Monsell, S. E., Schmitt, F. A., Kukull, W. A., & Nelson, P. T. (2014) · Journal of Alzheimer's Disease · doi:10.3233/jad-131880 · Cited by 108 · see citing works
Self-citationRisk factors and global cognitive status related to brain arteriolosclerosis in elderly individuals
Ighodaro, E. T., Abner, E. L., Fardo, D. W., Lin, A.-L., Katsumata, Y., Schmitt, F. A., Kryscio, R. J., Jicha, G. A., Neltner, J. H., Monsell, S. E., et al. (2017) · Journal of Cerebral Blood Flow & Metabolism · doi:10.1177/0271678x15621574 · Cited by 98 · see citing works
Self-citationABCC9 gene polymorphism is associated with hippocampal sclerosis of aging pathology
Nelson, P. T., Estus, S., Abner, E. L., Parikh, I. J., Malik, M., Neltner, J. H., Ighodaro, E. T., Wang, W., Wilfred, B. R., Wang, L., et al. (2014) · Acta Neuropathologica · doi:10.1007/s00401-014-1282-2 · Cited by 91 · see citing works
Self-citationShih, Y., Tu, L., Chang, T.-Y., Ganesan, K., Chang, W.-W., Chang, P.-S., Fang, Y.-S., Lin, Y.-T., Jin, L., & Chen, Y. (2020) · Nature Communications · doi:10.1038/s41467-020-19786-7 · Cited by 91 · see citing works
Self-citationWalker, R. M., Vaher, K., Bermingham, M. L., Morris, S. W., Bretherick, A. D., Zeng, Y., Rawlik, K., Amador, C., Campbell, A., Haley, C., et al. (2021) · Genome Medicine · doi:10.1186/s13073-020-00808-4 · Cited by 87 · see citing works
stringi: Fast and Portable Character String Processing in R
Ga̧golewski, M. (2022) · Journal of Statistical Software · doi:10.18637/jss.v103.i02 · Cited by 86 · see citing works
DNA methylation of TOMM40-APOE-APOC2 in Alzheimer’s disease
Shao, Y. Y., Shaw, M. L., Todd, K. W., Khrestian, M., D’Aleo, G., Barnard, P. J., Zahratka, J. A., Pillai, J. A., Yu, C., Keene, C. D., et al. (2018) · Journal of Human Genetics · doi:10.1038/s10038-017-0393-8 · Cited by 84 · see citing works
Self-citationCOL4A2 is associated with lacunar ischemic stroke and deep ICH
Rannikmäe, K., Sivakumaran, V., Millar, H., Malik, R., Anderson, C. D., Chong, M., Dave, T., Falcone, G. J., Fernández‐Cadenas, I., Jiménez-Conde, J., et al. (2017) · Neurology · doi:10.1212/wnl.0000000000004560 · Cited by 77 · see citing works
Self-citationAn emerging role of astrocytes in vascular contributions to cognitive impairment and dementia
Price, B. R., Norris, C. M., Sompol, P. M., & Wilcock, D. M. (2017) · Journal of Neurochemistry · doi:10.1111/jnc.14273 · Cited by 76 · see citing works
Genetic variation in APOE cluster region and Alzheimer's disease risk
Cervantes, S., Samaranch, L., Vidal-Taboada, J. M., Lamet, I., Bullido, M. J., Frank, A., Coria, F., Lleó, A., Clarimón, J., Lorenzo, E., et al. (2011) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2011.05.023 · Cited by 74 · see citing works
A role for collagen type IV in cardiovascular disease?
Steffensen, L. B., & Rasmussen, L. M. (2018) · American Journal of Physiology-Heart and Circulatory Physiology · doi:10.1152/ajpheart.00070.2018 · Cited by 73 · see citing works
Neuropathology in the Adult Changes in Thought Study: A Review
Sonnen, J. A., Larson, E. B., Haneuse, S., Woltjer, R. L., Li, G., Crane, P. K., Craft, S., & Montine, T. J. (2009) · Journal of Alzheimer s Disease · doi:10.3233/jad-2009-1180 · Cited by 69 · see citing works
Self-citationHeberle, B. A., Brandon, J. A., Page, M. L., Nations, K. A., Dikobe, K. I., White, B. J., Gordon, L. A., Fox, G. A., Wadsworth, M. E., Doyle, P. H., et al. (2024) · Nature Biotechnology · doi:10.1038/s41587-024-02245-9 · Cited by 69 · see citing works
Self-citationNelson, P. T., Wang, W., Partch, A. B., Monsell, S. E., Valladares, O., Ellingson, S. R., Wilfred, B. R., Naj, A. C., Wang, L.-S., Kukull, W. A., et al. (2014) · Journal of Neuropathology & Experimental Neurology · doi:10.1097/nen.0000000000000151 · Cited by 68 · see citing works
Self-citationRelation of genomic variants for Alzheimer disease dementia to common neuropathologies
Farfel, J. M., Yu, L., Buchman, A. S., Schneider, J. A., De Jager, P. L., & Bennett, D. A. (2016) · Neurology · doi:10.1212/wnl.0000000000002909 · Cited by 64 · see citing works
Self-citationCerebral amyloid angiopathy: diagnosis and potential therapies
Weber, S. A., Patel, R. K., & Lutsep, H. L. (2018) · Expert Review of Neurotherapeutics · doi:10.1080/14737175.2018.1480938 · Cited by 63 · see citing works
Dugan, A. J., Nelson, P. T., Katsumata, Y., Shade, L. M. P., Boehme, K. L., Teylan, M., Cykowski, M. D., Mukherjee, S., Kauwe, J. S. K., Hohman, T. J., et al. (2021) · Acta Neuropathologica Communications · doi:10.1186/s40478-021-01250-2 · Cited by 61 · see citing works
Self-citationGuennewig, B., Lim, J., Marshall, L. L., McCorkindale, A. N., Paasila, P. J., Patrick, E., Kril, J. J., Halliday, G. M., Cooper, A. A., & Sutherland, G. T. (2021) · Scientific Reports · doi:10.1038/s41598-021-83872-z · Cited by 57 · see citing works
Bi, W., Zhou, W., Dey, R., Mukherjee, B., Sampson, J. N., & Lee, S. (2021) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2021.03.019 · Cited by 57 · see citing works
Weber, R., Ghoshdastider, U., Spies, D., Duré, C., Valdivia-Francia, F., Forny, M., Ormiston, M., Renz, P. F., Taborsky, D., Yiğit, M., et al. (2022) · Oncogene · doi:10.1038/s41388-022-02578-2 · Cited by 54 · see citing works
The Delayed Neuropathological Consequences of Traumatic Brain Injury in a Community-Based Sample
Postupna, N. O., Rose, S. E., Gibbons, L. E., Coleman, N., Hellstern, L. L., Ritchie, K., Wilson, A. M., Cudaback, E., Li, X., Melief, E. J., et al. (2021) · Frontiers in Neurology · doi:10.3389/fneur.2021.624696 · Cited by 51 · see citing works
Self-citationRollinson, S. J., Mead, S., Snowden, J. S., Richardson, A. M. T., Rohrer, J. D., Halliwell, N. A., Usher, S., Neary, D., Mann, D. M. A., Hardy, J., et al. (2011) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2010.12.005 · Cited by 48 · see citing works
Self-citationKawaue, T., Shitamukai, A., Nagasaka, A., Tsunekawa, Y., Shinoda, T., Saito, K., Terada, R., Bilgic, M., Miyata, T., Matsuzaki, F., et al. (2019) · Nature Communications · doi:10.1038/s41467-019-10730-y · Cited by 47 · see citing works
Katsumata, Y., Shade, L. M. P., Hohman, T. J., Schneider, J. A., Bennett, D. A., Farfel, J. M., Kukull, W. A., Fardo, D. W., & Nelson, P. T. (2022) · Neurobiology of Disease · doi:10.1016/j.nbd.2022.105880 · Cited by 44 · see citing works
Self-citationGenome-wide association study and functional validation implicates JADE1 in tauopathy
Farrell, K. W., Kim, S., Han, N., Iida, M. A., Gonzalez, E. M., Otero‐García, M., Walker, J. M., Richardson, T. E., Renton, A. E., Andrews, S. J., et al. (2021) · Acta Neuropathologica · doi:10.1007/s00401-021-02379-z · Cited by 36 · see citing works
Self-citationKatsumata, Y., Nelson, P. T., Ellingson, S. R., & Fardo, D. W. (2017) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2017.01.003 · Cited by 35 · see citing works
Self-citationCrane, P. K., Foroud, T., Montine, T. J., & Larson, E. B. (2017) · Alzheimer s & Dementia · doi:10.1016/j.jalz.2017.09.010 · Cited by 33 · see citing works
Self-citationCiani, M., Benussi, L., Bonvicini, C., & Ghidoni, R. (2019) · Frontiers in Neuroscience · doi:10.3389/fnins.2019.00506 · Cited by 30 · see citing works
Reddy, J. S., Allen, M., Ho, C. C. G., Oatman, S. R., İş, Ö., Quicksall, Z., Wang, X., Jin, J., Patel, T., Carnwath, T., et al. (2021) · Acta Neuropathologica Communications · doi:10.1186/s40478-021-01199-2 · Cited by 29 · see citing works
Self-citationIdentification of biomarker panels as predictors of severity in coronary artery disease
Braiek, A. B., Chahed, H., Dumont, F., Abdelhak, F., Denguir, H., Gamra, H., & Baudin, B. (2020) · Journal of Cellular and Molecular Medicine · doi:10.1111/jcmm.16244 · Cited by 27 · see citing works
The emerging theme of 3′UTR mRNA isoform regulation in reprogramming of cell metabolism
Zhang, Q., & Tian, B. (2023) · Biochemical Society Transactions · doi:10.1042/bst20221128 · Cited by 21 · see citing works
LATE-NC risk alleles (in TMEM106B, GRN, and ABCC9 genes) among persons with African ancestry
Katsumata, Y., Fardo, D. W., Shade, L. M. P., Bowen, J. D., Crane, P. K., Jarvik, G. P., Keene, C. D., Larson, E. B., McCormick, W. C., McCurry, S. M., et al. (2023) · Journal of Neuropathology & Experimental Neurology · doi:10.1093/jnen/nlad059 · Cited by 21 · see citing works
Self-citationEpigenome‐wide analyses identify DNA methylation signatures of dementia risk
Walker, R. M., Bermingham, M. L., Vaher, K., Morris, S. W., Clarke, T., Bretherick, A. D., Zeng, Y., Amador, C., Rawlik, K., Pandya, K., et al. (2020) · Alzheimer s & Dementia Diagnosis Assessment & Disease Monitoring · doi:10.1002/dad2.12078 · Cited by 20 · see citing works
A Genetic Study of Cerebral Atherosclerosis Reveals Novel Associations with NTNG1 and CNOT3
Vattathil, S., Liu, Y., Harerimana, N. V., Lori, A., Gerasimov, E. S., Beach, T. G., Reiman, E. M., Jager, P. L. D., Schneider, J. A., Bennett, D. A., et al. (2021) · Genes · doi:10.3390/genes12060815 · Cited by 10 · see citing works
Self-citationBi, W., Zhou, W., Zhang, P., Sun, Y., Yue, W., & Lee, S. (2023) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2023.03.010 · Cited by 7 · see citing works
Genome-wide association study of brain arteriolosclerosis
Shade, L. M. P., Katsumata, Y., Hohman, T. J., Nho, K. T., Saykin, A. J., Mukherjee, S., Boehme, K. L., Kauwe, J. S., Farrer, L. A., Schellenberg, G. D., et al. (2022) · Journal of Cerebral Blood Flow & Metabolism · doi:10.1177/0271678x211066299 · Cited by 4 · see citing works
Self-citationlincoln-shade/np_phewas: Initial
lincoln-shade (2024) · Zenodo (CERN European Organization for Nuclear Research) · doi:10.5281/zenodo.11089995 · Cited by 1 · see citing works
Flagged first, then by citations
4 of the 110 references couldn’t be matched to a known paper.
Cited by
Sorted by citations
Ali, M., Erabadda, B., Chen, Y., Xu, Y., Gong, K., Liu, M., Binette, A. P., Timsina, J., Western, D., Yang, C., et al. (2025) · Nature Medicine · doi:10.1038/s41591-025-03833-1 · Cited by 46 · see citing works
Self-citationPottier, C. P., Küçükali, F., Baker, M. C., Batzler, A. J., Jenkins, G. D., van Blitterswijk, M., Vicente, C. T., Coster, W. D., Wynants, S., de Walle, P. V., et al. (2025) · Nature Communications · doi:10.1038/s41467-025-59216-0 · Cited by 26 · see citing works
Self-citationThe genetics of neurodegenerative diseases is the genetics of age-related damage clearance failure
Hardy, J., & Escott‐Price, V. (2025) · Molecular Psychiatry · doi:10.1038/s41380-025-02911-7 · Cited by 23 · see citing works
Self-citationSystematic review and meta‐analysis of bulk RNAseq studies in human Alzheimer's disease brain tissue
Heberle, B. A., Fox, K. L., Libermann, L. L., Xavier, S. R. M., Dallarosa, G. T., Santos, R. C., Fardo, D. W., Viola, T. W., & Ebbert, M. (2025) · Alzheimer s & Dementia · doi:10.1002/alz.70025 · Cited by 29 · see citing works
Self-citationBIN1 and Alzheimer’s disease: the tau connection
Dourlen, P., Kilinc, D., Landrieu, I., Chapuis, J., & Lambert, J. (2025) · Trends in Neurosciences · doi:10.1016/j.tins.2025.03.004 · Cited by 23 · see citing works
Gawor, K., Verrept, S., Arekatla, G., Wouters, D., Ronisz, A., Hecht, M., Laureyssen, C., Donck, H. V., Lahaije, B., Ospitalieri, S., et al. (2025) · Alzheimer s & Dementia · doi:10.1002/alz.70483 · Cited by 17 · see citing works
Bioenergetics and lipid metabolism in Alzheimer's disease: From cell biology to systemic health
Maioli, S., Nalvarte, I., Ankarcrona, M., Schultzberg, M., Zuloaga, K. L., Goikolea, J., Visser, P. J., Strooper, B. D., Winblad, B., Pizzo, P., et al. (2025) · Journal of Internal Medicine · doi:10.1111/joim.70036 · Cited by 18 · see citing works
Therapeutic targeting of neuroimmune mechanisms in neurodegeneration
Monroe, K. M., Hong, S. Y., Lewcock, J. W., & Yang, A. C. (2026) · Nature Reviews Drug Discovery · doi:10.1038/s41573-025-01370-7 · Cited by 14 · see citing works
Systems biology of Alzheimer’s Disease: a scoping review of key pathways and mechanisms
Bice, P. J., Nho, K. T., Ertekin‐Taner, N., & Saykin, A. J. (2026) · Molecular Neurodegeneration · doi:10.1186/s13024-026-00934-4 · Cited by 13 · see citing works
Self-citationShwab, E. K., Pathak, G. A., Harvey, J., Belloy, M. E., Fischer, C. E., Lutz, M. W., Scholz, S. W., Cook, N., Reid, D. M., Chen, J., et al. (2025) · Alzheimer s & Dementia · doi:10.1002/alz.70549 · Cited by 11 · see citing works
Shared genes and pathways in dementia: Insights from genome‐wide association studies
Loi, K. J., Radtke, N., Kiriluk, C., Noureldein, M. H., Feldman, E. L., Bakulski, K. M., & Chen, K. S. (2025) · Alzheimer s & Dementia · doi:10.1002/alz.70845 · Cited by 8 · see citing works
Cardona, C. L., Wei, L., Kim, J., Angeles, E., Singh, G., Chen, S., Patel, R., Ifediora, N., Canoll, P., Teich, A. F., et al. (2025) · Journal of Neuroinflammation · doi:10.1186/s12974-025-03562-9 · Cited by 8 · see citing works
EADB, Bellenguez, C., Castillo Morales, A., Amin, N., van der Lee, S. J., Muntaner, M., Parveen, K., Küçükali, F., Grenier-Boley, B., Heikkinen, S., et al. (2026) · Nature Genetics · doi:10.1038/s41588-026-02583-1 · Cited by 7 · see citing works
“%) index variants of the tier 1 and tier 2 loci from the GWAS of 11 NPEs 17 .”
InfluentialTchuisseu‐Kwangoua, L. A., Omarov, M., Shatunov, A., Markus, H. S., Tatuene, J. K., & Georgakis, M. K. (2025) · Journal of the American Heart Association · doi:10.1161/jaha.124.041814 · Cited by 7 · see citing works
Lysosomes and lysosomal dysfunction in ageing biology
Steinhauser, M. L., Liu, Y., Rizzo, S. J. S., Chen, B. B., Finkel, T., & Tan, J. X. (2026) · Nature Cell Biology · doi:10.1038/s41556-026-02007-6 · Cited by 7 · see citing works
Milestone Review: The History of Molecular Genetics Analysis of Alzheimer's Disease
Hardy, J. (2025) · Journal of Neurochemistry · doi:10.1111/jnc.70148 · Cited by 6 · see citing works
Self-citationRecommendations for responsible use of population descriptors in polygenic risk score development
Smith, J. L., Adebamowo, C., Adebamowo, S. N., Darst, B. F., Fullerton, S. M., Gogarten, S. M., Hamed, M. E., Hirbo, J. B., Hysong, M. R., Johar, A., et al. (2025) · Nature Genetics · doi:10.1038/s41588-025-02395-9 · Cited by 7 · see citing works
Self-citationOatman, S. R., Reddy, J. S., Atashgaran, A., Wang, X., Min, Y., Quicksall, Z., Vanelderen, F., Carrasquillo, M. M., Liu, C.-C., Yamazaki, Y., et al. (2026) · Nature Communications · doi:10.1038/s41467-026-68864-9 · Cited by 6 · see citing works
Self-citationCelebrating 40 years of the University of Kentucky Alzheimer's Disease Research Center
Schmitt, F. A., Abner, E. L., Fardo, D. W., Gold, B. T., Jicha, G. A., Kryscio, R. J., Lee, D. C., Nelson, P. T., & Eldik, L. J. V. (2025) · Alzheimer s & Dementia · doi:10.1002/alz.70181 · Cited by 7 · see citing works
Self-citationCelebrating neuropathology's contributions to Alzheimer's Disease Research Centers
Fischer, D. L., Grinberg, L. T., Ahrendsen, J. T., Beach, T. G., Bieniek, K. F., Castellani, R. J., Chkheidze, R., Cobos, I., Cohen, M. L., Crary, J. F., et al. (2025) · Alzheimer s & Dementia · doi:10.1002/alz.70734 · Cited by 5 · see citing works
Self-citationAung, K. Z., Zin, S. S., Wu, X., Myint, Z. W., Karanth, S. D., Estus, S., Norris, C. M., Nelson, P. T., Fardo, D. W., Abner, E. L., et al. (2025) · Neurobiology of Disease · doi:10.1016/j.nbd.2025.107190 · Cited by 4 · see citing works
Self-citationGenetically Predicted Levels of Lipoprotein(a) and Risk of Cerebrovascular Disease
Daghlas, I., Georgakis, M. K., Arsenault, B. J., Kim, A., Burgess, S., & Gill, D. (2026) · Journal of the American Heart Association · doi:10.1161/jaha.125.045423 · Cited by 4 · see citing works
Khani, M., Akçimen, F., Grant, S. M., Akerman, S. C., Lee, P. S., Faghri, F., Leonard, H. L., Kim, J. J., Makarious, M. B., Koretsky, M. J., et al. (2025) · Nature Communications · doi:10.1038/s41467-025-62108-y · Cited by 4 · see citing works
Heritability and shared environmental effects of brain diseases in 12,040 extended families
Dijkstra, J. I. R., Hulsman, M., Waterink, L., Holstege, H. H., Teunissen, C. E., Christiaansen, W. F. L., de Jong, B. A., Kochunov, P. V., Donohue, B., Zwan, M. D., et al. (2025) · npj Dementia · doi:10.1038/s44400-025-00030-2 · Cited by 3 · see citing works
Systematic review and meta-analysis of bulk RNAseq studies in human Alzheimer’s disease brain tissuePreprint
Heberle, B. A., Fox, K. L., Libermann, L. L., Xavier, S. R. M., Dallarosa, G. T., Santos, R. C., Fardo, D. W., Viola, T. W., & Ebbert, M. (2024) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2024.11.07.622520 · Cited by 3 · see citing works
Self-citationWu, J., Wang, X., 田青, Yin, C., Gao, D., Ai, X., Yang, X., Xiao, T., Gao, Y., Fanggang, H., et al. (2025) · npj Digital Medicine · doi:10.1038/s41746-025-02265-y · Cited by 3 · see citing works
Self-citationSex-dependent interferon signaling contributes to female-biased vulnerability in Alzheimer’s disease
López-López, V., Iniesta, G., Galán-Ganga, M., Exposito-Coca, A., Durán-Laforet, V., Bhojwani-Cabrera, A. M., Navarrón, C. M., Guillot-Fernández, M., Venero, J. L., Sanchez-Mut, J. V., et al. (2026) · Journal of Neuroinflammation · doi:10.1186/s12974-026-03840-0 · Cited by 4 · see citing works
Jiang, C., van der Lee, S. J., Tesi, N., van der Flier, W. M., Tijms, B. M., & Reus, L. M. (2025) · Aging Brain · doi:10.1016/j.nbas.2025.100147 · Cited by 2 · see citing works
ADGC, Bonn, CHARGE, EADB, Bellenguez, C., EADI, FinnGen, GERAD, GR@ACE/DEGESCO, & PGC-ALZ (2025) · medRxiv · doi:10.1101/2025.10.20.25338060 · Cited by 2 · see citing works
Genetic drivers of progression in Alzheimer’s disease are distinct from disease risk
Cohen, C. E., Fernandez, S., Yaman, U., Ehyaei, A. R., Kodosaki, E., Askarova, A., Porter, T., O’Brien, E., Study, A. I. B. A. L., Initiative, A. D. N., et al. (2026) · Alzheimer's Research & Therapy · doi:10.1186/s13195-026-02036-1 · Cited by 1 · see citing works
Protein Pathologies in Oligodendroglia in Neurodegenerative Diseases
Forrest, S. L., & Kovács, G. G. (2025) · Advances in neurobiology · doi:10.1007/978-3-031-87919-7_14 · Cited by 1 · see citing works
The role of autoantibodies in Alzheimer's disease: Pathogenetic connections or epiphenomena?
Chatanaka, M. K., Prassas, I., Masters, C. L., & Diamandis, E. P. (2025) · Alzheimer s & Dementia · doi:10.1002/alz.70484 · Cited by 1 · see citing works
Duckhorn, J. C., Kim, D. K., & Huang, Y. A. (2025) · Neural Regeneration Research · doi:10.4103/nrr.nrr-d-25-00243 · Cited by 2 · see citing works
Han, C., Gilis, J., Delgado, E. I., Clement, L., & Vitting‐Seerup, K. (2026) · NAR Genomics and Bioinformatics · doi:10.1093/nargab/lqag098 · Cited by 1 · see citing works
Genius, P., Rodríguez‐Fernández, B., Minguillón, C., Brugulat‐Serrat, A., Huguet, J., Esteller, M., Sudre, C. H., Cortés‐Canteli, M., Tristão‐Pereira, C., García‐Lunar, I., et al. (2026) · Frontiers in Neurology · doi:10.3389/fneur.2025.1667424 · Cited by 1 · see citing works
Belloy, M. E., Graff‐Radford, J., & Greicius, M. D. (2026) · Nature Genetics · doi:10.1038/s41588-025-02472-z · Cited by 3 · see citing works
Genetic analysis of neurodegenerative diseases
Grassano, M., Schindler, A. B., Traynor, B. J., & Scholz, S. W. (2026) · Journal of Clinical Investigation · doi:10.1172/jci199840 · Cited by 1 · see citing works
Cholerton, B., Godrich, D., Pasteris, J., Rivero, J., Martin, E. R., Kunkle, B. W., Naj, A. C., Hamilton-Nelson, K. L., Wang, H., Lee, W.-P., et al. (2026) · PLOS Genetics · doi:10.1371/journal.pgen.1012170 · Cited by 1 · see citing works
Self-citationBelloy, M. E., Graff‐Radford, J., & Greicius, M. D. (2025) · medRxiv · doi:10.1101/2025.03.10.25323519 · Cited by 1 · see citing works
Sex-dependent interferon signaling drives female-biased vulnerability in Alzheimer’s diseasePreprint
López-López, V., Iniesta, G., Galán-Ganga, M., Exposito-Coca, A., Bhojwani-Cabrera, A. M., Guillot-Fernández, M., Giralt, A., & López‐Atalaya, J. P. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2025.08.22.671724 · Cited by 1 · see citing works
Neuroimaging-derived brain endophenotypes link molecular mechanisms to Alzheimer’s disease and agingPreprint
Li, R., Feng, R., Liu, A., Cao, X., Jager, P. L. D., Bennett, D. A., Davatzikos, C. A., Wen, J., & Wang, G. T. (2025) · medRxiv · doi:10.1101/2025.11.25.25340884 · Cited by 1 · see citing works
Self-citationSalazar, A., Tesi, N., Knoop, L., van Schoor, N. M., Huisman, M. A., Tijms, B. M., Vijverberg, E. G. B., van der Lee, S. J., Wijesekera, S., Křížová, J., et al. (2025) · medRxiv · doi:10.1101/2025.02.02.25321330
Hu, M., Esmaeeli, S., Stolzenburg, L. R., Milkovich, B., Jouni, M., Nyamugenda, E., Hammond, R. K., Reinhardt, P., Bahnassawy, L., Gasparini, L., et al. (2026) · Frontiers in Aging Neuroscience · doi:10.1101/2025.03.31.646439 · Cited by 2 · see citing works
Ebbert, M., Ho, A., Page, M. L., Dutch, B., Byer, B. K., Hankins, K. L., Sabra, H. W., Heberle, B. A., Wadsworth, M. E., Fox, G. A., et al. (2026) · Nucleic Acids Research · doi:10.1093/nar/gkag704
Self-citationGenetically proxied blood pressure, vascular brain injury, and Alzheimer's disease pathology
Daghlas, I., Caunca, M. R., Shade, L. M. P., Nassan, M. M., Yaffe, K. S., Fardo, D. W., & Gill, D. (2025) · Alzheimer s & Dementia · doi:10.1002/alz.70515
Self-citationKui, N., Yu, Y., Choi, J., McCaw, Z., Li, X.-H., Huff, C., & Sun, R. (2025) · bioRxiv · doi:10.1101/2025.07.21.665850
O’Brien, E. K., Cox, T. O., Fernandez, S., Bourgeat, P., Porter, T., Goudey, B., Doecke, J. D., Masters, C. L., Fripp, J., Nho, K. T., et al. (2026) · EBioMedicine · doi:10.1016/j.ebiom.2026.106329
Self-citationMahmoud, F., & Lacy, M. A. (2025) · The Clinical Neuropsychologist · doi:10.1080/13854046.2025.2600462
Cholerton, B., Godrich, D., Pasteris, J., Rivero, J., Martin, E. R., Kunkle, B. W., Naj, A. C., Hamilton‐Nelson, K. L., Wang, H., Lee, W., et al. (2026) · medRxiv · doi:10.64898/2026.01.22.26344634
Self-citationShade, L. M. P., Qiao, Q., Katsumata, Y., Mukherjee, S., Broome, J., Johnson, L. A., Ebbert, M., Nelson, P. T., & Fardo, D. W. (2026) · Nature Genetics · doi:10.1038/s41588-025-02473-y
Self-citationEmekeeva, D. D., Chen, J., Yang, Y., Yang, J.-H., Gorshkov, M. V., & Tarasova, I. A. (2026) · Journal of Alzheimer s Disease · doi:10.1177/13872877251414414
Heysmond, S., Kyratzi, P., Wattis, J. A. D., Páldi, A., Brookes, K. J., Kreft, K. L., Shao, B., & Rauch, C. (2026) · medRxiv · doi:10.64898/2026.03.05.26347710
Novás, M., Matos, M. J., & Chai, C. L. L. (2026) · Expert Opinion on Drug Discovery · doi:10.1080/17460441.2026.2646603
Kui, N., Yu, Y., Choi, J., McCaw, Z. R., Li, X., Scheet, P. A., Huff, C. D., & Sun, R. (2026) · Genetics · doi:10.1093/genetics/iyag079
Progranulin genetic variant rs5848 displays ancestry-specific associations with Alzheimer’s disease
Life, B. E., Navarro‐Delgado, E. I., Fornés, O., Friedman, J. M., Wasserman, W. W., Korthauer, K. D., & Leavitt, B. R. (2026) · Human Genomics · doi:10.1186/s40246-026-00958-3
BIN1 (amphiphysin 2) in the pathogenesis of cognitive impairment
Shamakina, I. Y., Kokhan, V. S., Venkova, V. A., Баронец, В. Ю., Popov, S. S., & Anokhin, P. K. (2026) · S S Korsakov Journal of Neurology and Psychiatry · doi:10.17116/jnevro202612603145
Risk prediction for cardiovascular related diseases using PRS and EHR in the Framingham Heart Study
Kim, T., Song, J., & Joo, J. W. J. (2026) · PLoS ONE · doi:10.1371/journal.pone.0345914
Dopler, M. B., Corbett, W. C., Gonzalez, A. D., Ghaseminejad‐Bandpey, A., Keating, M., Clarke, K. M., Ogunbona, O. B., Maestre, G., Seshadri, S. S., Etemadmoghadam, S., et al. (2026) · Journal of Neuropathology & Experimental Neurology · doi:10.1093/jnen/nlag031
Dissecting Alzheimer’s disease heterogeneity by cross-trait polygenic predictionPreprint
Li, W. F., Mohammed, N., Bennett, D. A. A., Kellis, M., & Tanigawa, Y. (2026) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.64898/2026.05.15.725551
Self-citationMikhailenko, E., Savola, S. E., Kero, M., Tienari, P., Myllykangas, L., & Kaivola, K. (2026) · Brain Communications · doi:10.1093/braincomms/fcag189
Zhao, Y., Conghui, L., Yv, K., Wang, N., & Li, Z. (2026) · Journal of Alzheimer s Disease · doi:10.1177/13872877261452242
Self-citationMekkes, N., Kumar, U., Hoekstra, E., Marmolejo-Garza, A., Dagkesamanskaia, E., Wever, D. D., de Groot, M., Kreft, K. L., Rajicic, A., Seelaar, H., et al. (2026) · medRxiv · doi:10.64898/2026.06.30.26356924 · Cited by 1 · see citing works
Microglia in Alzheimer’s disease: Insights into disease progression and therapy
Saini, V., Mukherjee, S., Vora, C., Jindal, H., & Jha, H. C. (2026) · Advances in immunology · doi:10.1016/bs.ai.2026.06.004
Self-citationOlivé, C., de Rojas, I., Zhang, L., Sotolongo‐Grau, Ó., Quintela, I., García‐González, P., Puerta, R., Montrreal, L., Bayón-Buján, P., Boada Rovira, M., et al. (2026) · Frontiers in Aging Neuroscience · doi:10.3389/fnagi.2026.1875172
BIN1 (Amphiphysin 2) in the Pathogenesis of Cognitive Impairment
Shamakina, I. Y., Kokhan, V. S., Venkova, V. A., Баронец, В. Ю., Popov, S. S., & Anokhin, P. K. (2026) · Neuroscience and Behavioral Physiology · doi:10.1007/s11055-026-02059-z
Thomassen, J. Q., Leonard, H., Ulms, B., Grenier‐Boley, B., Heikkinen, S., García‐González, P., Castillo-Morales, A., Kikuchi, M., Gim, J., Cao, H., et al. (2026) · Nature Genetics · doi:10.1038/s41588-026-02713-9
Laureyssen, C., Thal, D. R., & Sleegers, K. (2026) · Acta Neuropathologica · doi:10.1007/s00401-026-03085-4
CSF proteomic quantitative trait loci mapping reveals genetic insights into Alzheimer’s disease
Reus, L. M., Jiang, C., Vilor‐Tejedor, N., Boltz, T. A., Yigit, A., Gobom, J., Vos, S. J. B., Blennow, K., Zetterberg, H., Martinez-Lage, P., et al. (2026) · Molecular Neurodegeneration Advances · doi:10.1186/s44477-026-00048-7
Mostafaei, S., Gustavsson, K., Hagelin, H., Mak, J. K. L., Vũ, T. N., Karlsson, I. K., & Hägg, S. (2026) · Alzheimer s & Dementia · doi:10.1002/alz.71869
Uhl, G. R., Choi, J., Kannan, B., Henderson, I., Hess, E., Rogers, H., McFarland, D., Dowell, H., Nolan, S., & Schultz, K. P. (2026) · Biomedicines · doi:10.3390/biomedicines14102210
Hexokinase-2–glycolytic overload axis in brain disorders exacerbated by diabetes
Alhujaily, M. M., Rabbani, N., & Thornalley, P. J. (2026) · Trends in Endocrinology and Metabolism · doi:10.1016/j.tem.2026.09.006
- Authors
- Shade, L. M. P., Katsumata, Y., Abner, E. L., Aung, K. Z., Claas, S. A., Qiao, Q., Heberle, B. A., Brandon, J. A., Page, M. L., Hohman, T. J., Mukherjee, S., Mayeux, R. P., Farrer, L. A., Schellenberg, G. D., Haines, J. L., Kukull, W. A., Nho, K., Saykin, A. J., Bennett, D. A., Schneider, J. A., The National Alzheimer’s Coordinating Center, Biber, S., Albert, M., Asthana, S., Bennett, D., Brewer, J., Chui, H., Craft, S., DeCarli, C., Golde, T., Grabowski, T., Henderson, V., Hyman, B., Kaye, J., Kowall, N., LaFerla, F., Levey, A., Lopez, O., Miller, B., Morris, J., Paulson, H., Petersen, R., Reiman, E., Rosenberg, R., Sano, M., Saykin, A., Small, S., Strittmatter, S., Swerdlow, R., Trojanowski, J., Van Eldik, L., Vassar, R., Wisniewski, T., Stephens, K. A., Chan, K. C. G., O’Connell, H., Gauthreaux, K., Mock, C., Chen, Y.-C., Oswald, S., Miller, Z., Shibata, D. K., Ormsby, K., Culhane, J., Yasuda, S., The Alzheimer’s Disease Genetics Consortium, Bowen, J. D., Crane, P. K., Jarvik, G. P., Keene, C. D., Larson, E. B., McCormick, W. C., McCurry, S. M., Mukherjee, S., Kowall, N. W., McKee, A. C., Stern, R. A., Honig, L. S., Vonsattel, J. P., Williamson, J., Small, S., Burke, J. R., Hulette, C. M., Welsh-Bohmer, K. A., Gearing, M., Lah, J. J., Levey, A. I., Wingo, T. S., Apostolova, L. G., Farlow, M. R., Ghetti, B., Saykin, A. J., Spina, S., Albert, M. S., Lyketsos, C. G., Troncoso, J. C., Frosch, M. P., Green, R. C., Growdon, J. H., Hyman, B. T., Tanzi, R. E., Potter, H., Dickson, D. W., Ertekin-Taner, N., Graff-Radford, N. R., Parisi, J. E., Petersen, R. C., Duara, R., Buxbaum, J. D., Goate, A. M., Sano, M., Masurkar, A. V., Wisniewski, T., Bigio, E. H., Mesulam, M., Weintraub, S., Vassar, R., Kaye, J. A., Quinn, J. F., Woltjer, R. L., Barnes, L. L., Bennett, D. A., Schneider, J. A., Yu, L., Henderson, V., Fallon, K. B., Harrell, L. E., Marson, D. C., Roberson, E. D., DeCarli, C., Jin, L.-W., Olichney, J. M., Kim, R., LaFerla, F. M., Monuki, E., Head, E., Sultzer, D., Geschwind, D. H., Vinters, H. V., Chesselet, M.-F., Galasko, D. R., Brewer, J. B., Boxer, A., Karydas, A., Kramer, J. H., Miller, B. L., Rosen, H. J., Seeley, W. W., Burns, J. M., Swerdlow, R. H., Abner, E., Fardo, D. W., Van Eldik, L. J., Albin, R. L., Lieberman, A. P., Paulson, H. L., Arnold, S. E., Trojanowski, J. Q., Van Deerlin, V. M., Hamilton, R. L., Kamboh, M. I., Lopez, O. L., Becker, J. T., Cao, C., Raj, A., Smith, A. G., Chui, H. C., Miller, C. A., Ringman, J. M., Schneider, L. S., Bird, T. D., Sonnen, J. A., Yu, C.-E., Peskind, E., Raskind, M., Li, G., Tsuang, D. W., Atwood, C. S., Carlsson, C. M., Sager, M. A., Chin, N. A., Craft, S., Cairns, N. J., Morris, J. C., Cruchaga, C., Strittmatter, S., Reiman, E. M., Beach, T. G., Huentelman, M. J., Hardy, J., Myers, A. J., Kauwe, J. S. K., Hakonarson, H., Blacker, D., Montine, T. J., Baldwin, C. T., Farrer, L. A., Jun, G., Lunetta, K. L., Bush, W. S., Haines, J. L., Lerner, A. J., Zhou, X., Barral, S., Reitz, C., Vardarajan, B. N., Mayeux, R., Beecham, G. W., Carney, R. M., Cuccaro, M. L., Gilbert, J. R., Hamilton-Nelson, K. L., Kunkle, B. W., Martin, E. R., Pericak-Vance, M. A., Vance, J. M., Cantwell, L. B., Kuzma, A. P., Malamon, J., Naj, A. C., Qu, L., Schellenberg, G. D., Valladares, O., Wang, L.-S., Zhao, Y., Leverenz, J. B., De Jager, P. L., Evans, D. A., Katz, M. J., Lipton, R. B., Boeve, B. F., Allen, M., Carrasquillo, M. M., Younkin, S. G., Faber, K. M., Foroud, T. M., Pavlik, V., Massman, P., Darby, E., Rodriguear, M., Khaleeq, A., Royall, D. R., Stevens, A., Ory, M., DeToledo, J. C., Wilms, H., Johnson, K., Perez, V., Hernandez, M., Wilhelmsen, K. C., Tilson, J., Chasse, S., Barber, R. C., Fairchild, T. J., O’Bryant, S. E., Knebl, J., Hall, J. R., Johnson, L., Mains, D., Alvarez, L., Gamboa, A., Paydarfar, D., Bertelson, J., Woon, M., Ayres, G., Aguirre, A., Palmer, R., Polk, M., Adams, P. M., Huebinger, R. M., Reisch, J. S., Rosenberg, R. N., Cullum, M., Williams, B., Quiceno, M., Hynan, L., Smith, J., Davis, B., Nguyen, T., Rogaeva, E., George-Hyslop, P. S., Ebbert, M. T. W., Nelson, P. T., & Fardo, D. W.
- Affiliations
- University of Kentucky (US)
- Vanderbilt University Medical Center (US)
- University of Washington (US)
- Indiana University Indianapolis (US)
- Case Western Reserve University (US)
- Indiana University School of Medicine (US)
- Rush University Medical Center (US)
- University of Pennsylvania (US)
- ORCID
- Shade, Lincoln M. P.
- Katsumata, Yuriko
- Aung, Khine Zin
- Claas, Steven A.
- Qiao, Qi
- Heberle, Bernardo Aguzzoli
- Brandon, J. Anthony
- Page, Madeline L.
- Hohman, Timothy J.
- Mayeux, Richard P.
- Kukull, Walter A.
- Nho, Kwangsik
- Crane, Paul K.
- Jarvik, Gail P.
- Larson, Eric B.
- McKee, Ann C.
- Stern, Robert A.
- Honig, Lawrence S.
- Welsh-Bohmer, Kathleen A.
- Lah, James J.
- Apostolova, Liana G.
- Farlow, Martin R.
- Ghetti, Bernardino
- Spina, Salvatore
- Lyketsos, Constantine G.
- Frosch, Matthew P.
- Green, Robert C.
- Tanzi, Rudolph E.
- Potter, Huntington
- Dickson, Dennis W.
- Goate, Alison M.
- Mesulam, Marsel
- Barnes, Lisa L.
- Yu, Lei
- Roberson, Erik D.
- Head, Elizabeth
- Geschwind, Daniel H.
- Vinters, Harry V.
- Boxer, Adam
- Burns, Jeffrey M.
- Swerdlow, Russell H.
- Arnold, Steven E.
- Becker, James T.
- Bird, Thomas D.
- Peskind, Elaine
- Cruchaga, Carlos
- Huentelman, Matthew J.
- Hardy, John
- Hakonarson, Hakon
- Blacker, Deborah
- Montine, Thomas J.
- Jun, Gyungah
- Lunetta, Kathryn L.
- Bush, William S.
- Vardarajan, Badri N.
- Beecham, Gary W.
- Gilbert, John R.
- Martin, Eden R.
- Leverenz, James B.
- Evans, Denis A.
- Lipton, Richard B.
- Boeve, Bradley F.
- Faber, Kelley M.
- Foroud, Tatiana M.
- Wilhelmsen, Kirk C.
- Barber, Robert C.
- Rogaeva, Ekaterina
- Ebbert, Mark T. W.
- Nelson, Peter T.
- Venue
- Nature Genetics
- Published
- 2024-10-08
- Volume
- 56
- Issue
- 11
- Pages
- 2407-2421
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- PMC
- PMC11549054
- OpenAlex
- W4403228432
- Cited by
- 72
- References
- 110
- Citations by year
- 2026: 38 · 2025: 32 · 2024: 2
- FWCI
- 20.49
- Type
- journal article
- Language
- en
- Update notices
- Open access
- hybrid
- doi.org
- Licence
- Locations
- Nature Genetics (publishedVersion, cc-by-nc-nd)
- PubMed Central (publishedVersion, cc-by-nc-nd)
- PubMed (publishedVersion)
- IUScholarWorks (Indiana University) (submittedVersion, cc-by-nc-nd)
- UKnowledge (University of Kentucky) (submittedVersion)
- Funders
- U.S. Department of Health & Human Services | NIH | National Institute on Aging (RF1AG082339)
- Funding sources listed in the acknowledgments
- Topics
- Health Sciences › Medicine › Physiology › Alzheimer's disease research and treatments
- Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Keywords
- Alzheimer's disease and related dementias, genetic susceptibility loci, COL4A1, PIK3R5, APOC2, cerebral amyloid angiopathy, DNA methylation, cerebral cortex, genetic colocalization, pleiotropy, quantitative trait loci, neuropathology
- MeSH terms
- Neuropathology, Aged, Aged, 80 and over, Alzheimer Disease, Dementia, Female, Humans, Male, Risk Factors, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Quantitative Trait Loci, Genome-Wide Association Study, Endophenotypes
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 ›
Are you an author, or do you see a problem with this page? Request a review