The DOI matches its Crossref record; 46 of the 47 references it cites were found in a registry or an index.
Methylomic profiling implicates cortical deregulation of ANK1 in Alzheimer's disease
Open accessAbstract
Alzheimer's disease (AD) is a chronic neurodegenerative disorder that is characterized by progressive neuropathology and cognitive decline. We performed a cross-tissue analysis of methylomic variation in AD using samples from four independent human post-mortem brain cohorts. We identified a differentially methylated region in the ankyrin 1 (ANK1) gene that was associated with neuropathology in the entorhinal cortex, a primary site of AD manifestation. This region was confirmed as being substantially hypermethylated in two other cortical regions (superior temporal gyrus and prefrontal cortex), but not in the cerebellum, a region largely protected from neurodegeneration in AD, or whole blood obtained pre-mortem from the same individuals. Neuropathology-associated ANK1 hypermethylation was subsequently confirmed in cortical samples from three independent brain cohorts. This study represents, to the best of our knowledge, the first epigenome-wide association study of AD employing a sequential replication design across multiple tissues and highlights the power of this approach for identifying methylomic variation associated with complex disease.
Overview
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
Verification
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?
The source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“Importantly, alterations of DNA methylation levels have also been implicated in multiple neurological disorders including AD [18–22]”
From Sex-specific DNA methylation differences in Alzheimer’s disease pathology (2021) · cites this paper as [19]
Experimental — accuracy not yet measuredThe source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“Consistent with previous studies [18, 19, 86, 87], we observed the majority of these sex-specific differences were hyper-methylated in samples with AD neuropathology, for which methylation levels increased as the AD Braak stage increased”
From Sex-specific DNA methylation differences in Alzheimer’s disease pathology (2021) · cites this paper as [19]
Experimental — accuracy not yet measuredThe cited source says what the claim attributes to it.
In the citing paper
“Alterations of DNA methylation levels have been shown to be involved in many diseases, including AD [19–24].”
From Distinct sex-specific DNA methylation differences in Alzheimer’s disease (2022) · cites this paper as [20]
The cited source says what the claim attributes to it.
In the citing paper
“consistent with previous studies in AD that also found DNA methylation variations in the blood, by and large, did not recapitulate those in the brain [20, 22, 93].”
From Distinct sex-specific DNA methylation differences in Alzheimer’s disease (2022) · cites this paper as [20]
The cited source says what the claim attributes to it.
In the citing paper
“DNA methylation is an important epigenetic modification that regulates gene transcription and is known to be involved in AD”
From Sex-specific DNA methylation differences in Alzheimer’s disease pathology (2021) · cites this paper as [19]
The cited source says what the claim attributes to it.
In the citing paper
“Notably, none of the 14 CpGs detected in our interaction analysis was identified in previous large-scale DNA methylation studies [18–22]”
From Sex-specific DNA methylation differences in Alzheimer’s disease pathology (2021) · cites this paper as [19]
In the citing paper
“and two independent genome-wide studies recently identified a differentially methylated region in the ANK1 gene as associated with the burden of AD pathology [198, 199].”
From Genetic architecture of Alzheimer's disease (2020) · cites this paper as [198]
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
R: A Language and Environment for Statistical Computing
R Core Team (2000) · doi:10.32614/r.manuals · Cited by 355,893
An integrated encyclopedia of DNA elements in the human genome
The ENCODE Project Consortium (2012) · Nature · doi:10.1038/nature11247 · Cited by 18,072
Neuropathological stageing of Alzheimer-related changes.
Braak, H., & Braak, E. (1991) · Acta Neuropathologica · doi:10.1007/bf00308809 · Cited by 16,123
The Amyloid Hypothesis of Alzheimer’s Disease: Progress and Problems on the Road to Therapeutics
Hardy, J., & Selkoe, D. J. (2002) · Science · doi:10.1126/science.1072994 · Cited by 13,864
Bioconductor: open software development for computational biology and bioinformatics
Gentleman, R. C., Carey, V. J., Bates, D. M., Bolstad, B., Dettling, M., Dudoit, S., Ellis, B., Gautier, L., Ge, Y., Gentry, J., et al. (2004) · Genome biology · doi:10.1186/gb-2004-5-10-r80 · Cited by 12,082
Amyloid oligomers exacerbate tau pathology in a mouse model of tauopathy
Selenica, M.-L. B., Brownlow, M., Jimenez, J. P., Lee, D. C., Pena, G., Dickey, C. A., Gordon, M. N., & Morgan, D. (2013) · Neurodegenerative Diseases · doi:10.1159/000337230 · Cited by 10,359
Alzheimer's disease: the amyloid cascade hypothesis
Hardy, J. A., & Higgins, G. A. (1992) · Science · doi:10.1126/science.1566067 · Cited by 7,484
Meta-Analysis of 74,046 Individuals Identifies 11 New Susceptibility Loci for Alzheimer’s Disease
(EADI), E. A. D. I., Lambert, J.-C., (GERAD), G. A. E. R. I. A. D., Alzheimer's Disease Genetic Consortium (ADGC), (CHARGE), C. F. H. A. A. R. I. G. E., Ibrahim-Verbaas, C. A., Harold, D., Naj, A. C., Sims, R., Bellenguez, C., et al. (2013) · Nature Genetics · doi:10.1038/ng.2802 · Cited by 4,336
Self-citationForecasting the global burden of Alzheimer's disease
Brookmeyer, R., Johnson, E., Ziegler‐Graham, K., & Arrighi, H. M. (2007) · Alzheimer's & Dementia · doi:10.1016/j.jalz.2007.04.381 · Cited by 3,370
The projected effect of risk factor reduction on Alzheimer's disease prevalence
Barnes, D. E., & Yaffe, K. S. (2011) · The Lancet Neurology · doi:10.1016/s1474-4422(11)70072-2 · Cited by 2,846
Cited by
Sorted by citations
Integrative analysis of 111 reference human epigenomes
Roadmap Epigenomics Consortium, Kundaje, A., Meuleman, W., Ernst, J., Bilenky, M., Yen, A., Heravi-Moussavi, A., Kheradpour, P., Zhang, Z., Wang, J., et al. (2015) · Nature · doi:10.1038/nature14248 · Cited by 6,368
The Amyloid-β Pathway in Alzheimer’s Disease
Hampel, H., Hardy, J., Blennow, K., Chen, C., Perry, G., Kim, S. H., Villemagne, V. L., Aisen, P., Vendruscolo, M., Iwatsubo, T., et al. (2021) · Molecular Psychiatry · doi:10.1038/s41380-021-01249-0 · Cited by 1,952
Ageing, neurodegeneration and brain rejuvenation
Wyss-Coray, T. (2016) · Nature · doi:10.1038/nature20411 · Cited by 1,147
Alzheimer's disease: early alterations in brain DNA methylation at ANK1, BIN1, RHBDF2 and other loci
De Jager, P. L., Srivastava, G., Lunnon, K., Burgess, J., Schalkwyk, L. C., Yu, L., Eaton, M. L., Keenan, B. T., Ernst, J., McCabe, C., et al. (2014) · Nature Neuroscience · doi:10.1038/nn.3786 · Cited by 956
“To further assess the robustness of our results, we evaluated the 71 significantly associated CpGs in an independent collection of 117 subjects with a different quantitative measure of AD pathology (Braak staging) 24 .”
Self-citationAn epigenetic clock analysis of race/ethnicity, sex, and coronary heart disease
Horvath, S., Gurven, M., Levine, M. E., Trumble, B. C., Kaplan, H. S., Allayee, H., Ritz, B. R., Chen, B. H., Lu, A. T.-H., Rickabaugh, T. M., et al. (2016) · Genome biology · doi:10.1186/s13059-016-1030-0 · Cited by 749
The Key Role of Epigenetics in Human Disease Prevention and Mitigation
Feinberg, A. P. (2018) · New England Journal of Medicine · doi:10.1056/nejmra1402513 · Cited by 638
Molecular genetics of early-onset Alzheimer’s disease revisited
Cacace, R., Sleegers, K., & Van Broeckhoven, C. (2016) · Alzheimer's & Dementia · doi:10.1016/j.jalz.2016.01.012 · Cited by 617
Hannon, E., Lunnon, K., Schalkwyk, L., & Mill, J. (2015) · Epigenetics · doi:10.1080/15592294.2015.1100786 · Cited by 455
Self-citationThe epigenetics of aging and neurodegeneration
Lardenoije, R., Iatrou, A., Kenis, G., Kompotis, K., Steinbusch, H. W. M., Mastroeni, D., Coleman, P., Lemere, C. A., Hof, P. R., van den Hove, D. L. A., et al. (2015) · Progress in Neurobiology · doi:10.1016/j.pneurobio.2015.05.002 · Cited by 381
Nativio, R., Lan, Y., Donahue, G., Sidoli, S., Berson, A., Srinivasan, A. R., Shcherbakova, O., Amlie-Wolf, A., Nie, J., Cui, X., et al. (2020) · Nature Genetics · doi:10.1038/s41588-020-0696-0 · Cited by 380
Genetics of Parkinson's disease
Lill, C. M. (2016) · Molecular and Cellular Probes · doi:10.1016/j.mcp.2016.11.001 · Cited by 387
The emerging field of epigenetics in neurodegeneration and neuroprotection
Hwang, J.-Y., Aromolaran, K. A., & Zukin, R. S. (2017) · Nature reviews. Neuroscience · doi:10.1038/nrn.2017.46 · Cited by 353
DNA Methylation Biomarkers in Aging and Age-Related Diseases
Salameh, Y., Bejaoui, Y., & Hajj, N. E. (2020) · Frontiers in Genetics · doi:10.3389/fgene.2020.00171 · Cited by 322
Guidance for DNA methylation studies: statistical insights from the Illumina EPIC array
Mansell, G., Gorrie-Stone, T. J., Bao, Y., Kumari, M., Schalkwyk, L. S., Mill, J., & Hannon, E. (2019) · BMC Genomics · doi:10.1186/s12864-019-5761-7 · Cited by 340
Self-citationHistone Acetylome-wide Association Study of Autism Spectrum Disorder
Sun, W., Poschmann, J., Cruz-Herrera del Rosario, R., Parikshak, N. N., Hajan, H. S., Kumar, V., Ramasamy, R., Belgard, T. G., Elanggovan, B., Wong, C. C. Y., et al. (2016) · Cell · doi:10.1016/j.cell.2016.10.031 · Cited by 306
Self-citationShou, Y., Huang, Y., Zhu, X., Liu, C., Hu, Y., & Wang, H. (2019) · Ecotoxicology and Environmental Safety · doi:10.1016/j.ecoenv.2019.02.086 · Cited by 310
Aging and Alzheimer's disease: comparison and associations from molecular to system level
Xia, X., Jiang, Q., McDermott, J., & Han, J. J. (2018) · Aging Cell · doi:10.1111/acel.12802 · Cited by 301
Monoaminergic neuropathology in Alzheimer’s disease
Šimić, G., Leko, M. B., Wray, S., Harrington, C. R., Delalle, I., Milošević, N. J., Bažadona, D., Buée, L., de Silva, R., Giovanni, G. D., et al. (2016) · Progress in Neurobiology · doi:10.1016/j.pneurobio.2016.04.001 · Cited by 297
Klein, H., Aubin, C., Gjoneska, E., Sullivan, S. E., Kaskow, B. J., Tang, A. Y., Smith, R. V., Xu, J., Pfenning, A. R., Bernstein, B., et al. (2018) · Nature Neuroscience · doi:10.1038/s41593-018-0291-1 · Cited by 283
Self-citationLi, P., Marshall, L., Oh, G., Jakubowski, J. L., Groot, D., He, Y., Wang, T., Petronis, A., & Labrie, V. (2019) · Nature Communications · doi:10.1038/s41467-019-10101-7 · Cited by 234
The Ageing Brain: Molecular and Cellular Basis of Neurodegeneration
Azam, S., Haque, M. E., Balakrishnan, R., Kim, I., & Choi, D. (2021) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2021.683459 · Cited by 273
Application of Metabolomics in Alzheimer’s Disease
Wilkins, J. M., & Trushina, E. (2018) · Frontiers in Neurology · doi:10.3389/fneur.2017.00719 · Cited by 268
Marzi, S. J., Leung, S. K., Ribarska, T., Hannon, E., Smith, A. R., Pishva, E., Poschmann, J., Moore, K., Troakes, C., Al-Sarraj, S., et al. (2018) · Nature Neuroscience · doi:10.1038/s41593-018-0253-7 · Cited by 232
Self-citationUntangling Genetic Risk for Alzheimer’s Disease
Pimenova, A. A., Raj, T., & Goate, A. M. (2018) · Biological Psychiatry · doi:10.1016/j.biopsych.2017.05.014 · Cited by 223
Gasparoni, G., Bultmann, S., Lutsik, P., Kraus, T. F. J., Sordon, S., Vlcek, J., Dietinger, V., Steinmaurer, M., Haider, M., Mulholland, C. B., et al. (2018) · Epigenetics & Chromatin · doi:10.1186/s13072-018-0211-3 · Cited by 229
Gene–environment interactions in Alzheimer disease: the emerging role of epigenetics
Migliore, L., & Coppedè, F. (2022) · Nature Reviews Neurology · doi:10.1038/s41582-022-00714-w · Cited by 217
The role of ABCA7 in Alzheimer’s disease: evidence from genomics, transcriptomics and methylomics
De Roeck, A., Van Broeckhoven, C., & Sleegers, K. (2019) · Acta Neuropathologica · doi:10.1007/s00401-019-01994-1 · Cited by 212
Recalibrating the epigenetic clock: implications for assessing biological age in the human cortex
Shireby, G. L., Davies, J. P., Francis, P. T., Burrage, J., Walker, E., Neilson, G., Dahir, A., Thomas, A. J., Love, S., Smith, R. G., et al. (2020) · Brain · doi:10.1093/brain/awaa334 · Cited by 194
Self-citationWatson, C. T., Roussos, P., Garg, P., Ho, D. J., Azam, N., Katsel, P. L., Haroutunian, V., & Sharp, A. J. (2016) · Genome Medicine · doi:10.1186/s13073-015-0258-8 · Cited by 201
Self-citationThe cerebellum ages slowly according to the epigenetic clock
Horvath, S., Mah, V., Lu, A. T., Woo, J. S., Choi, O.-W., Jasinska, A. J., Riancho, J. A., Tung, S., Coles, N. S., Braun, J., et al. (2015) · Aging · doi:10.18632/aging.100742 · Cited by 191
Mechanisms of Melatonin in Alleviating Alzheimer’s Disease
Shukla, M., Govitrapong, P., Boontem, P., Reiter, R. J., & Satayavivad, J. (2017) · Current Neuropharmacology · doi:10.2174/1570159x15666170313123454 · Cited by 199
Understanding Alzheimer Disease at the Interface between Genetics and Transcriptomics
Verheijen, J., & Sleegers, K. (2018) · Trends in Genetics · doi:10.1016/j.tig.2018.02.007 · Cited by 192
Hannon, E. J., Gorrie-Stone, T. J., Smart, M., Burrage, J., Hughes, A., Bao, Y., Meena Kumari, B., Schalkwyk, L. C., & Mill, J. S. (2018) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2018.09.007 · Cited by 191
Self-citationPsychosis in Alzheimer disease—mechanisms, genetics and therapeutic opportunities
Ismail, Z., Creese, B., Aarsland, D., Kales, H. C., Lyketsos, C. G., Sweet, R. A., & Ballard, C. (2022) · Nature Reviews Neurology · doi:10.1038/s41582-021-00597-3 · Cited by 189
Association of DNA methylation differences with schizophrenia in an Epigenome-Wide association study
Montano, C., Taub, M. A., Jaffe, A., Briem, E., Feinberg, J. I., Trygvadottir, R., Idrizi, A., Runarsson, A., Berndsen, B., Gur, R. C., et al. (2016) · JAMA Psychiatry · doi:10.1001/jamapsychiatry.2016.0144 · Cited by 180
Smith, R. G., Hannon, E., De Jager, P. L., Chibnik, L., Lott, S. J., Condliffe, D., Smith, A. R., Haroutunian, V., Troakes, C., Al‐Sarraj, S., et al. (2018) · Alzheimer's & Dementia · doi:10.1016/j.jalz.2018.01.017 · Cited by 184
Self-citationEpigenetics of Alzheimer’s Disease
Perković, M. N., Paska, A. V., Konjevod, M., Kouter, K., Štrac, D. Š., Erjavec, G. N., & Pivac, N. (2021) · Biomolecules · doi:10.3390/biom11020195 · Cited by 192
Epigenetic Alterations in Alzheimer’s Disease
Sanchez-Mut, J. V., & Gräff, J. (2015) · Frontiers in Behavioral Neuroscience · doi:10.3389/fnbeh.2015.00347 · Cited by 175
Smith, R. G., Pishva, E., Shireby, G. L., Smith, A. R., Roubroeks, J. A. Y., Hannon, E. J., Wheildon, G., Mastroeni, D., Gasparoni, G., Riemenschneider, M. J., et al. (2021) · Nature Communications · doi:10.1038/s41467-021-23243-4 · Cited by 176
Self-citationWes, P. D., Holtman, I. R., Boddeke, E. W. G. M., Möller, T., & Eggen, B. J. L. (2016) · Glia · doi:10.1002/glia.22866 · Cited by 167
Recent Progress in Alzheimer’s Disease Research, Part 2: Genetics and Epidemiology
Robinson, M. J., Lee, B. Y., & Hane, F. T. (2017) · Journal of Alzheimer s Disease · doi:10.3233/jad-161149 · Cited by 179
Altered Expression of the m6A Methyltransferase METTL3 in Alzheimer’s Disease
Huang, H., Camats‐Perna, J., Medeiros, R., Anggono, V., & Widagdo, J. (2020) · eNeuro · doi:10.1523/eneuro.0125-20.2020 · Cited by 164
How epigenetics impacts on human diseases
Farsetti, A., Illi, B., & Gaetano, C. (2023) · European Journal of Internal Medicine · doi:10.1016/j.ejim.2023.05.036 · Cited by 191
Epigenetics in Alzheimer’s Disease: Perspective of DNA Methylation
Qazi, T. J., Quan, Z., Mir, A., & Qing, H. (2018) · Molecular Neurobiology · doi:10.1007/s12035-016-0357-6 · Cited by 153
Human DNA methylomes of neurodegenerative diseases show common epigenomic patterns
Sanchez-Mut, J. V., Heyn, H., Vidal, E., Morán, S., Sayols, S., Delgado‐Morales, R., Schultz, M. D., Ansoleaga, B., Garcia‐Esparcia, P., Pons‐Espinal, M., et al. (2016) · Translational Psychiatry · doi:10.1038/tp.2015.214 · Cited by 160
Seo, D. H., Pineda, S., Fang, J., Gozukara, Y. M., Yick, S., Bendavid, A., Lam, S. K. H., Murdock, A. T., Murphy, A. B., Han, Z., et al. (2017) · Nature Communications · doi:10.1038/ncomms14217 · Cited by 152
Post-mortem analysis of neuroinflammatory changes in human Alzheimer’s disease
Gomez-Nicola, D., & Boche, D. (2015) · Alzheimer's Research & Therapy · doi:10.1186/s13195-015-0126-1 · Cited by 147
Millan, M. J. (2017) · Progress in Neurobiology · doi:10.1016/j.pneurobio.2017.03.004 · Cited by 151
The APOE Gene is Differentially Methylated in Alzheimer’s Disease
Foraker, J. E., Millard, S. P., Leong, L., Thomson, Z., Chen, S., Keene, C. D., Bekris, L. M., & Yu, C. (2015) · Journal of Alzheimer s Disease · doi:10.3233/jad-143060 · Cited by 143
Delgado‐Morales, R., Agís‐Balboa, R. C., Esteller, M., & Berdasco, M. (2017) · Clinical Epigenetics · doi:10.1186/s13148-017-0365-z · Cited by 147
Editing the Epigenome: Reshaping the Genomic Landscape
Holtzman, L., & Gersbach, C. A. (2018) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-083117-021632 · Cited by 147
Omics sciences for systems biology in Alzheimer’s disease: State-of-the-art of the evidence
Hampel, H. J., Nisticò, R., Seyfried, N. T., Levey, A. I., Modeste, E. S., Lemercier, P., Baldacci, F., Toschi, N., Garaci, F., Perry, G. L., et al. (2021) · Ageing Research Reviews · doi:10.1016/j.arr.2021.101346 · Cited by 147
Genetic–epigenetic interactions in cis: a major focus in the post-GWAS era
Do, C., Shearer, A., Suzuki, M., Terry, M. B., Gelernter, J. E., Greally, J. M., & Tycko, B. (2017) · Genome biology · doi:10.1186/s13059-017-1250-y · Cited by 145
Zhang, L., Silva, T. C., Young, J. I., Gomez, L., Schmidt, M. A., Hamilton-Nelson, K. L., Kunkle, B. W., Chen, X., Martin, E. R., & Wang, L. (2020) · Nature Communications · doi:10.1038/s41467-020-19791-w · Cited by 139
Birnbaum, J. H., Wanner, D., Gietl, A. F., Saake, A., Kündig, T. M., Hock, C., Nitsch, R. M., & Tackenberg, C. (2018) · Stem Cell Research · doi:10.1016/j.scr.2018.01.019 · Cited by 135
Systematic underestimation of the epigenetic clock and age acceleration in older subjects
Khoury, L. Y. E., Gorrie-Stone, T. J., Smart, M., Hughes, A., Bao, Y., Andrayas, A., Burrage, J., Hannon, E. J., Meena Kumari, B., Mill, J. S., et al. (2019) · Genome biology · doi:10.1186/s13059-019-1810-4 · Cited by 135
Self-citationAlzheimer’s disease-associated (hydroxy)methylomic changes in the brain and blood
Lardenoije, R., Roubroeks, J. A. Y., Pishva, E., Leber, M., Wagner, H., Iatrou, A., Smith, A. R., Smith, R. G., Eijssen, L., Kleineidam, L., et al. (2019) · Clinical Epigenetics · doi:10.1186/s13148-019-0755-5 · Cited by 135
Self-citationMicroglial Malfunction: The Third Rail in the Development of Alzheimer's Disease
Mhatre, S. D., Tsai, C. A., Rubin, A. J., James, M. L., & Andreasson, K. I. (2015) · Trends in Neurosciences · doi:10.1016/j.tins.2015.08.006 · Cited by 134
Mechanisms and Disease Associations of Haplotype-Dependent Allele-Specific DNA Methylation
Do, C., Lang, C. F., Lin, J. P., Darbary, H. K., Krupska, I., Gaba, A., Petukhova, L., Vonsattel, J., GALLAGHER, M. P., Goland, R., et al. (2016) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2016.03.027 · Cited by 130
Shireby, G. L., Dempster, E. L., Policicchio, S. S. S., Smith, R. G., Pishva, E., Chioza, B. A., Davies, J. P., Burrage, J., Lunnon, K., Vellame, D. S., et al. (2022) · Nature Communications · doi:10.1038/s41467-022-33394-7 · Cited by 127
Self-citationGenetic architecture of Alzheimer's disease
Neuner, S. M., TCW, J., & Goate, A. M. (2020) · Neurobiology of Disease · doi:10.1016/j.nbd.2020.104976 · Cited by 126
“, 2015), and two independent genome-wide studies recently identified a differentially methylated region in the ANK1 gene as associated with the burden of AD pathology (Lunnon et al., 2014; De Jager et al., 2014).”
Epigenomics of Alzheimer's disease
Bennett, D. A., Yu, L., Yang, J., Srivastava, G. P., Aubin, C., & Jager, P. L. D. (2014) · Translational research · doi:10.1016/j.trsl.2014.05.006 · Cited by 126
Self-citationGenetic architecture of epigenetic and neuronal ageing rates in human brain regions
Lu, A. T.-H., Hannon, E. J., Levine, M. E., Crimmins, E. M., Lunnon, K., Mill, J. S., Geschwind, D. H., & Horvath, S. (2017) · Nature Communications · doi:10.1038/ncomms15353 · Cited by 121
Self-citationThe epigenetic landscape of Alzheimer's disease
Lord, J., & Cruchaga, C. (2014) · Nature Neuroscience · doi:10.1038/nn.3792 · Cited by 122
Smith, A. R., Smith, R. G., Pishva, E., Hannon, E. J., Roubroeks, J. A. Y., Burrage, J., Troakes, C., Al‐Sarraj, S., Sloan, C., Mill, J. S., et al. (2019) · Clinical Epigenetics · doi:10.1186/s13148-019-0636-y · Cited by 118
Self-citationSemick, S. A., Bharadwaj, R. A., Collado‐Torres, L., Tao, R., Shin, J. H., Deep‐Soboslay, A., Weiss, J. R., Weinberger, D. R., Hyde, T. M., Kleinman, J. E., et al. (2019) · Acta Neuropathologica · doi:10.1007/s00401-019-01966-5 · Cited by 121
Alzheimer’s Disorder: Epigenetic Connection and Associated Risk Factors
Sharma, V., Mehta, V., & Singh, T. G. (2020) · Current Neuropharmacology · doi:10.2174/1570159x18666200128125641 · Cited by 124
Epigenetics in eating disorders: a systematic review
Hübel, C., Marzi, S. J., Breen, G., & Bulik, C. M. (2019) · Molecular Psychiatry · doi:10.1038/s41380-018-0254-7 · Cited by 116
Alzheimer's disease in the omics era
Sancesario, G. M., & Bernardini, S. (2018) · Clinical Biochemistry · doi:10.1016/j.clinbiochem.2018.06.011 · Cited by 113
A genome‐wide profiling of brain DNA hydroxymethylation in Alzheimer's disease
Zhao, J., Zhu, Y., Yang, J., Lin, L., Wu, H., Jager, P. L. D., Jin, P., & Bennett, D. A. (2017) · Alzheimer s & Dementia · doi:10.1016/j.jalz.2016.10.004 · Cited by 113
Self-citationDNA methylation signature of human hippocampus in Alzheimer’s disease is linked to neurogenesis
Altuna, M., Urdánoz‐Casado, A., de Gordoa, J. S., Zelaya, M. V., Labarga, A., Lepesant, J. M. J., Roldán, M., Blanco‐Luquin, I., Perdones-Montero, Á., Larumbe, R., et al. (2019) · Clinical Epigenetics · doi:10.1186/s13148-019-0672-7 · Cited by 107
Salminen, A., Haapasalo, A., Kauppinen, A., Kaarniranta, K., Soininen, H. S., & Hiltunen, M. O. (2015) · Progress in Neurobiology · doi:10.1016/j.pneurobio.2015.05.001 · Cited by 107
PM20D1 is a quantitative trait locus associated with Alzheimer’s disease
Sanchez-Mut, J. V., Heyn, H., Silva, B. A., Dixsaut, L., Garcia‐Esparcia, P., Vidal, E., Sayols, S., Glauser, L., Monteagudo, A., Pérez‐Tur, J., et al. (2018) · Nature Medicine · doi:10.1038/s41591-018-0013-y · Cited by 103
Mano, T., Nagata, K., Nonaka, T., Tarutani, A., Imamura, T., Hashimoto, T., Bannai, T., Mano, K. K., Tsuchida, T., Ohtomo, R., et al. (2017) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1707151114 · Cited by 105
Wong, C. C. Y., Smith, R. G., Hannon, E., Ramaswami, G., Parikshak, N. N., Assary, E., Troakes, C., Poschmann, J., Schalkwyk, L. C., Sun, W., et al. (2019) · Human Molecular Genetics · doi:10.1093/hmg/ddz052 · Cited by 98
Self-citationVasanthakumar, A., Davis, J. W., Idler, K., Waring, J. F., Asque, E., Riley-Gillis, B., Grosskurth, S., Srivastava, G., Kim, S., Nho, K., et al. (2020) · Clinical Epigenetics · doi:10.1186/s13148-020-00864-y · Cited by 98
Self-citationMeDeCom: discovery and quantification of latent components of heterogeneous methylomes
Lutsik, P., Slawski, M., Gasparoni, G., Vedeneev, N., Hein, M., & Walter, J. (2017) · Genome biology · doi:10.1186/s13059-017-1182-6 · Cited by 95
Griñán-Ferré, C., Izquierdo, V., Otero, E., Puigoriol-Illamola, D., Corpas, R., Sanfeliu, C., Ortuño-Sahagún, D., & Pallàs, M. (2018) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2018.00224 · Cited by 94
Blood DNA methylation as a potential biomarker of dementia: A systematic review
Fransquet, P. D., Lacaze, P., Saffery, R., McNeil, J., Woods, R., & Ryan, J. (2018) · Alzheimer's & Dementia · doi:10.1016/j.jalz.2017.10.002 · Cited by 96
Pellegrini, C., Pirazzini, C., Sala, C., Sambati, L., Yusipov, I., Kalyakulina, A., Ravaioli, F., Kwiatkowska, K. M., Durso, D. F., Ivanchenko, M., et al. (2021) · Frontiers in Aging Neuroscience · doi:10.3389/fnagi.2021.639428 · Cited by 90
MicroRNA-486-3p functions as a tumor suppressor in oral cancer by targeting DDR1
Chou, S.-T., Peng, H., Mo, K.-C., Hsu, Y.-M., Wu, G.-H., Hsiao, J., Lin, S., Wang, H., & Shiah, S. (2019) · Journal of Experimental & Clinical Cancer Research · doi:10.1186/s13046-019-1283-z · Cited by 92
Walker, 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
Step by step: towards a better understanding of the genetic architecture of Alzheimer’s disease
Lambert, J.-C., Ramirez, A., Grenier-Boley, B., & Bellenguez, C. (2023) · Molecular Psychiatry · doi:10.1038/s41380-023-02076-1 · Cited by 87
Román, G. C., Páez, O. M., & Bernal, C. (2019) · International Journal of Molecular Sciences · doi:10.3390/ijms20020319 · Cited by 94
study, T. A. I. B. A. L., Nabais, M. F., Initiative, T. A. D. N., Laws, S. M., Lin, T., Vallerga, C. L., Armstrong, N. J., Blair, I. P., Kwok, J. B., Mather, K. A., et al. (2021) · Genome Biology · doi:10.1186/s13059-021-02275-5 · Cited by 99
Self-citationSmith, A. R., Smith, R. G., Condliffe, D., Hannon, E. J., Schalkwyk, L. C., Mill, J. S., & Lunnon, K. (2016) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2016.07.008 · Cited by 92
Self-citationRole of Epigenetics in Alzheimer’s Disease Pathogenesis
Stoccoro, A., & Coppedè, F. (2018) · Neurodegenerative Disease Management · doi:10.2217/nmt-2018-0004 · Cited by 96
Meta-analysis of epigenome-wide association studies of cognitive abilities
Marioni, R. E., McRae, A. F., Bressler, J., Colicino, E., Hannon, E. J., Li, S., Prada, D., Smith, J. A., Trevisi, L., Tsai, P.-C., et al. (2018) · Molecular Psychiatry · doi:10.1038/s41380-017-0008-y · Cited by 87
Self-citationDNA 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 85
Variation in 5-hydroxymethylcytosine across human cortex and cerebellum
Lunnon, K., Hannon, E. J., Smith, R. G., Dempster, E. L., Wong, C. C. Y., Burrage, J., Troakes, C., Al‐Sarraj, S., Kepa, A., Schalkwyk, L. C., et al. (2016) · Genome biology · doi:10.1186/s13059-016-0871-x · Cited by 85
Self-citationRasmi, Y., Shokati, A., Hassan, A., Aziz, S. G., Bastani, S., Jalali, L., Moradi, F., & Alipour, S. (2022) · IBRO Neuroscience Reports · doi:10.1016/j.ibneur.2022.12.002 · Cited by 89
The role of epigenomics in personalized medicine
Kronfol, M. M., Dozmorov, M. G., Huang, R., Slattum, P. W., & McClay, J. L. (2017) · Expert Review of Precision Medicine and Drug Development · doi:10.1080/23808993.2017.1284557 · Cited by 87
Could Alzheimer’s Disease Originate in the Periphery and If So How So?
Morris, G., Berk, M., Maes, M. H. J., & Puri, B. K. (2018) · Molecular Neurobiology · doi:10.1007/s12035-018-1092-y · Cited by 86
Epigenetics and DNA methylomic profiling in Alzheimer's disease and other neurodegenerative diseases
Roubroeks, J. A. Y., Smith, R. G., van den Hove, D., & Lunnon, K. (2017) · Journal of Neurochemistry · doi:10.1111/jnc.14148 · Cited by 81
Self-citationRoubroeks, J. A. Y., Smith, A. R., Smith, R. G., Pishva, E., Ibrahim, Z., Sattlecker, M., Hannon, E. J., Kłoszewska, I., Mecocci, P., Soininen, H., et al. (2020) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2020.06.023 · Cited by 82
Self-citationEarly Life Stress and Epigenetics in Late-onset Alzheimer’s Dementia: A Systematic Review
Lemche, E. (2018) · Current Genomics · doi:10.2174/1389202919666171229145156 · Cited by 84
Carmo, S. D., Hanzel, C. E., Jacobs, M. L., Machnes, Z. M., Iulita, M. F., Yang, J., Yu, L., Ducatenzeiler, A., Danik, M., Breuillaud, L., et al. (2016) · Scientific Reports · doi:10.1038/srep34051 · Cited by 83
Self-citationDNA methylation alterations in Alzheimer’s disease
Yokoyama, A. S., Rutledge, J. C., & Medici, V. (2017) · Current Zoology · doi:10.1093/eep/dvx008 · Cited by 84
Epigenetics of chronic inflammatory diseases
Stylianou, E. (2018) · Journal of Inflammation Research · doi:10.2147/jir.s129027 · Cited by 79
Mordaunt, C. E., Jianu, J. M., Laufer, B. I., Zhu, Y., Hwang, H., Dunaway, K. W., Bakulski, K. M., Feinberg, J. I., Volk, H. E., Lyall, K., et al. (2020) · Genome Medicine · doi:10.1186/s13073-020-00785-8 · Cited by 90
Metadata
- Authors
- Lunnon, K., Smith, R., Hannon, E., De Jager, P. L., Srivastava, G., Volta, M., Troakes, C., Al-Sarraj, S., Burrage, J., Macdonald, R., Condliffe, D., Harries, L. W., Katsel, P., Haroutunian, V., Kaminsky, Z., Joachim, C., Powell, J., Lovestone, S., Bennett, D. A., Schalkwyk, L. C., & Mill, J.
- Affiliations
- University of Exeter (GB)
- King's College London (GB)
- Broad Institute (US)
- Icahn School of Medicine at Mount Sinai (US)
- Johns Hopkins University (US)
- John Radcliffe Hospital (GB)
- Rush University Medical Center (US)
- Corresponding author
- Mill, Jonathan
- ORCID
- Venue
- Nature Neuroscience
- Published
- 2014-08-17
- Volume
- 17
- Issue
- 9
- Pages
- 1164-1170
- ISSN
- 1097-6256 (ISSN-L)
- 1546-1726
- PMC
- PMC4410018
- OpenAlex
- W1991244004
- Cited by
- 574
- References
- 47
- Citations by year
- 2026: 26 · 2025: 38 · 2024: 43 · 2023: 46 · 2022: 49 · 2021: 56 · 2020: 65 · 2019: 46 · 2018: 56 · 2017: 41 · 2016: 56 · 2015: 37 · 2014: 15
- FWCI
- 20.38
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Nature Neuroscience (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Open Access at Essex (University of Essex) (acceptedVersion)
- Digital Access to Scholarship at Harvard (DASH) (Harvard University) (submittedVersion, cc-by)
- Figshare (submittedVersion)
- Research Portal (King's College London) (submittedVersion, other-oa)
- Open Research Exeter (University of Exeter) (submittedVersion)
- Funders
- Medical Research Council (MR/L022656/1)
- National Institute on Aging (R01AG017917, P30-AG 10161, K25AG041906, R01AG036039, AG-02219, R01‐AG17917, R01 AG15819, R01AG018023, R01AG036836, AG 05138, P50AG005138, R01-AG18023, R01AG036042, R01AG015819, P30AG010161, RC2AG036547, R01AG032990, P01AG002219, RF1AG036042, P50AG016574)
- National Institute of Mental Health (R01MH064673, MH-064673)
- National Institute of Environmental Health Sciences (U01ES017155)
- National Center for Research Resources (KL2RR024151)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Epigenetics and DNA Methylation
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Alzheimer's disease research and treatments
- Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
- Keywords
- Alzheimer's disease, ANK1, DNA methylation, hypermethylation, differentially methylated regions, entorhinal cortex, superior temporal gyrus, prefrontal cortex, cerebellum, epigenome-wide association study, postmortem brain
- MeSH terms
- Aged, Aged, 80 and over, Alzheimer Disease, Cerebral Cortex, Female, Humans, Male, Middle Aged, Temporal Lobe, Prefrontal Cortex, Ankyrins, Entorhinal Cortex, DNA Methylation, Epigenesis, Genetic, Genome-Wide Association Study, Transcriptome
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
