The DOI matches its Crossref record; 62 of the 62 references it cites were found in a registry or an index.
Alzheimer's disease: early alterations in brain DNA methylation at ANK1, BIN1, RHBDF2 and other loci
Open accessAbstract
We used a collection of 708 prospectively collected autopsied brains to assess the methylation state of the brain's DNA in relation to Alzheimer's disease (AD). We found that the level of methylation at 71 of the 415,848 interrogated CpGs was significantly associated with the burden of AD pathology, including CpGs in the ABCA7 and BIN1 regions, which harbor known AD susceptibility variants. We validated 11 of the differentially methylated regions in an independent set of 117 subjects. Furthermore, we functionally validated these CpG associations and identified the nearby genes whose RNA expression was altered in AD: ANK1, CDH23, DIP2A, RHBDF2, RPL13, SERPINF1 and SERPINF2. Our analyses suggest that these DNA methylation changes may have a role in the onset of AD given that we observed them in presymptomatic subjects and that six of the validated genes connect to a known AD susceptibility gene network.
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
“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 [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
“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 [18]
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 [18]
Experimental — accuracy not yet measuredThe cited source says what the claim attributes to it.
In the citing paper
“dysregulated DNAm has been observed as an early feature of AD neuropathology in the brain [19]”
From Distinct sex-specific DNA methylation differences in Alzheimer’s disease (2022) · cites this paper as [19]
The cited source says what the claim attributes to it.
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 [18]
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 [18]
In the citing paper
“These reference epigenomes, combined with other genomics data, have provided functional and causal insights about several human disease (De Jager et al., 2014; Farh et al., 2015; Yao, Tak, Berman, & Farnham, 2014).”
From Integrative Analysis of Multi-omics Data for Discovery and Functional Studies of Complex Human Diseases (2016) · cites this paper as De Jager et al., 2014
In the citing paper
“The most significant GWAS SNP was also a significant eQTL with the same direction of effect as in CMC for FURIN (rs4702: P = 1 × 10−6), CLCN3 (rs10520163: P = 9 × 10−6), and SNAP91 (rs3798869: P = 3 × 10−4); TSNARE1 (rs4129585: P = 0.057) and CNTN4 (rs17194490: P = 0.07) also had alleles in the same direction of effect as in CMC but did not reach significance.”
From Gene expression elucidates functional impact of polygenic risk for schizophrenia (2016) · cites this paper as [26]
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 [199]
In the citing paper
“A different study found altered methylation in the BIN1 locus at cg22883290 in relation to neuritic amyloid plaques and a pathologic diagnosis of AD, and this altered methylation pattern was independent of the effect of the rs744373 susceptibility variant [14].”
From BIN1 protein isoforms are differentially expressed in astrocytes, neurons, and microglia: neuronal and astrocyte BIN1 are implicated in tau pathology (2020) · cites this paper as [14]
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
Adjusting batch effects in microarray expression data using empirical Bayes methods
Johnson, W. E., Li, C., & Rabinovic, A. (2007) · Biostatistics · doi:10.1093/biostatistics/kxj037 · Cited by 8,658
Sperling, R. A., Aisen, P. S., Beckett, L. A., Bennett, D. A., Craft, S., Fagan, A. M., Iwatsubo, T., Jack, C. R., Kaye, J., Montine, T. J., et al. (2011) · Alzheimer's & Dementia · doi:10.1016/j.jalz.2011.03.003 · Cited by 7,155
Self-citationMeta-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-citationHarold, D., Abraham, R., Hollingworth, P., Sims, R., Gerrish, A., Hamshere, M. L., Pahwa, J. S., Moskvina, V., Dowzell, K., Williams, A., et al. (2009) · Nature Genetics · doi:10.1038/ng.440 · Cited by 3,326
Self-citationChromHMM: automating chromatin-state discovery and characterization
Ernst, J., & Kellis, M. (2012) · Nature Methods · doi:10.1038/nmeth.1906 · Cited by 2,457
Self-citationGenome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease
the European Alzheimer's Disease Initiative Investigators, Lambert, J.-C., Heath, S., Even, G., Campion, D., Sleegers, K., Hiltunen, M., Combarros, O., Zelenika, D., Bullido, M. J., et al. (2009) · Nature Genetics · doi:10.1038/ng.439 · Cited by 2,234
Du, P., Zhang, X., Huang, C.-C., Jafari, N., Kibbe, W. A., Hou, L., & Lin, S. M. (2010) · BMC Bioinformatics · doi:10.1186/1471-2105-11-587 · Cited by 2,136 · cited 2×
“We then performed a refinement step similar to that used in “ iSVA” 52 where for each independent component i ( 1 = i =k ) we created a sub-matrix of the beta values populated only by methylation probes that were significantly associated with component i .”
lumi : a pipeline for processing Illumina microarray
Du, P., Kibbe, W. A., & Lin, S. M. (2008) · Bioinformatics · doi:10.1093/bioinformatics/btn224 · Cited by 2,028
Initiative, T. A. D. N., Hollingworth, P., CHARGE consortium, EADI1 consortium, Harold, D., Sims, R., Gerrish, A., Lambert, J.-C., Carrasquillo, M. M., Abraham, R., et al. (2011) · Nature Genetics · doi:10.1038/ng.803 · Cited by 1,997
Naj, A. C., Jun, G., Beecham, G. W., Wang, L.-S., Vardarajan, B. N., Buros, J., Gallins, P. J., Buxbaum, J. D., Jarvik, G. P., Crane, P. K., et al. (2011) · Nature Genetics · doi:10.1038/ng.801 · Cited by 1,901 · cited 1×
“…in the BIN1 locus (beta=4.44, p=9.00×10 −8 ) and cg02308560 in the ABCA7 locus (beta=3.62, p=2.45×10 −12 ) 19-22 . cg22883290, is located 5 kb from the 5’ end of the BIN1 gene and 92 kb from the index SNP, rs744373, that best captures the genetic association to AD in this region ( Figure 2c ) 19 .”
InfluentialSelf-citation
Flagged first, then by citations
Cited by
Sorted by citations
Items 701–800 of 975
DNA Methylation in Alzheimer’s Disease
Weymouth, L. S., Smith, A. R., & Lunnon, K. (2024) · Current topics in behavioral neurosciences · doi:10.1007/7854_2024_530 · Cited by 4
Self-citationHan, S., Cho, S.-A., Choi, W., Eilbeck, K. L., Coon, H. H., Nho, K. T., & Lee, Y. (2025) · BMC Genomics · doi:10.1186/s12864-025-11362-x · Cited by 6
“For example, the AD-risk genes ANK1 and BIN1 have been shown to have differential DNA methylation [17].”
Insights in human epigenomic dynamics through comparative primate analysis
Bell, C. G. (2016) · Genomics · doi:10.1016/j.ygeno.2016.09.003 · Cited by 4
Chen, Y., Li, T., Hao, S., Wang, X., Cai, Y., & Han, Y. (2021) · Frontiers in Aging Neuroscience · doi:10.3389/fnagi.2021.632382 · Cited by 4
“A growing body of evidence points to the epigenetic contribution of AD, and both global and gene-specific changes in DNA methylation have been observed in the affected postmortem brain regions (Bakulski et al., 2012; De Jager et al., 2014; Cronin et al., 2017).”
BackgroundBarbu, M. C., Harris, M. A., Shen, X., Stolicyn, A., Green, C., Amador, C., Walker, R. M., Morris, S. W., Adams, M. J., Sandu, A., et al. (2021) · Epigenetics · doi:10.1080/15592294.2021.1997404 · Cited by 4
Emergence of exosomal DNA in molecular neuropathology
Kraus, T. F. J. (2018) · Journal of Laboratory Medicine · doi:10.1515/labmed-2017-0065 · Cited by 4
Aging of Human Adult Stem Cells
Xie, H., Zhao, S., & Liu, S. (2018) · Advances in experimental medicine and biology · doi:10.1007/978-981-13-1117-8_7 · Cited by 4
Genetik und Gen-Umwelt-Interaktionen bei psychischen Erkrankungen
Maier, W., Giegling, I., & Rujescu, D. (2017) · Springer eBooks · doi:10.1007/978-3-662-49295-6_5 · Cited by 5
Pant, M., Dan, S., Pant, S., Raj, A. N. P., & Upadhyay, S. K. (2021) · Current Pharmacology Reports · doi:10.1007/s40495-021-00265-6 · Cited by 5
Nazarian, A., Yashin, A. I., & Kulminski, A. M. (2018) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/322503 · Cited by 3
“…and Gräff 2015; Yokoyama et al. 2017), the AD-associated epigenetic modifications in several genes including ANK1, CDH23, RHBDF2, RPL13-C10orf54 (De Jager et al. 2014; Lord and Cruchaga 2014; Lunnon et al. 2014), and SORB3 (Siegmund et al. 2007; Sanchez-Mut et al. 2013) were replicated in…”
BackgroundEarly microglial priming in Alzheimer’s disease revealed by ME-seqPreprint
Zhu, B., Ghosh, A., Wang, Z., Liao, Z., Appiah, M. G., Li, J., Zhang, M., Tullio, F. D., Kurowski, A., Fullard, J. F., et al. (2026) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.64898/2026.01.30.702946 · Cited by 4
Sun, X., Hu, X., Wei, J., & An, H. (2025) · Biological Research · doi:10.1186/s40659-025-00598-2 · Cited by 3
“In addition, a study assessed the methylation state of the brain’s DNA in relation to AD using 708 prospectively collected autopsied brains [41].”
Multi-omics integration in disease research
Ceballos, M. W. G., Sy, F., Akbar, A., & Taofiq, A. (2025) · Progress in brain research · doi:10.1016/bs.pbr.2025.08.012 · Cited by 4
Fodder, K., Smith, H. M. G., Yaman, Ü., Piras, I. S., Murthy, M. N., Hardy, J., Lashley, T., de Silva, R., Salih, D. A. M., & Bettencourt, C. (2026) · Molecular Psychiatry · doi:10.1038/s41380-026-03686-1 · Cited by 4
“In AD, epigenome-wide association studies (EWAS) utilising bulk brain tissue have identified multiple genes with DNA methylation changes associated with the disease and its pathological burden[30–33], and meta-analyses have identified significant changes across multiple brain regions[29,34–36].”
Mishra, A., Satapathy, B. S., Sahu, P. K., Ghose, A., & Paidesetty, S. K. (2026) · ACS Omega · doi:10.1021/acsomega.6c00142 · Cited by 4
Omics-driven strategies for identifying biomarkers in Alzheimer’s disease
Khan, Y., Rekha, A., Ballal, S., Maharana, L., Maqbool, M., Goyal, K., Mishra, R., Uniyal, P., Alam, P., Aljarba, T. M., et al. (2026) · Metabolic Brain Disease · doi:10.1007/s11011-026-01873-1 · Cited by 3
“To detect disease-related methylomic heterogeneity in various brain areas, massive epigenome-wide association studies (EWAS) were used with a robust sequential replica methodology.”
Li, Y., Qiu, S., Zhong, W., Shi, J., Cui, H., Li, Y., Liu, Y., Cheng, Y., & Liu, Y. (2019) · Research in Autism · doi:10.1016/j.rasd.2019.101475 · Cited by 3
Saha, S. G., Seth, S., Ghosh, S., Qin, G., Bhadra, T., Pati, S. K., Chakraborty, S., & Mallik, S. (2024) · Network Modeling Analysis in Health Informatics and Bioinformatics · doi:10.1007/s13721-024-00470-5 · Cited by 3
The impact of sex on memory during aging and Alzheimer's disease progression: Epigenetic mechanisms
Scheinman, S. B., & Dong, H. (2024) · Journal of Alzheimer s Disease · doi:10.1177/13872877241288709 · Cited by 3
“110,111 114 However, the mechanism(s) through which histone modi fi cations impact disease progression is not yet known and further research is needed.”
He, Y., Zhu, P., Gao, S., Wu, S., Li, X., Huang, C., Chen, Y., & Liu, G. (2024) · Journal of Neurochemistry · doi:10.1111/jnc.16276 · Cited by 3
“Lastly, RIN3 regulates the function of the PTK2B gene through the PICLAM pathway, thereby modulating immune-mediated responses and ultimately influencing AD risk (De Jager et al., 2014 ).”
Krunic, A., Bellio, T. A., Cohen, B. Z., Labadorf, A. T., Stein, T. D., Lin, H., Mellott, T. J., & Blusztajn, J. K. (2025) · Aging Cell · doi:10.1111/acel.70241 · Cited by 5
“Numerous genes are differentially methylated in the AD brain, such as ANK1, BIN1, ABCA7 , and HOXA , as well as amyloidogenic pathway genes APP and PSEN1 (De Jager et al. 2014; Fetahu et al. 2019; Gasparoni et al. 2018; Lunnon et al. 2014; Semick et al. 2019; Smith et al. 2018, 2019).”
Extraction of co-expressed discriminative features of Schizophrenia in imaging epigenetics framework
Bai, Y., Zillé, P., Calhoun, V. D., & Wang, Y. (2019) · SPIE Medical Imaging: Biomedical Applications in Molecular, Structural, and Functional Imaging · doi:10.1117/12.2513024 · Cited by 3
Kraus, T. F. J., Langwieder, C. K., Hölzl, D., Hutarew, G., Schlicker, H. U., Alinger-Scharinger, B., Schwartz, C., & Sotlar, K. (2023) · Cancers · doi:10.3390/cancers15133525 · Cited by 3
Theron, D., Hopkins, L. N., Sutherland, H. G. E., Griffiths, L. R., & Fernandez, F. (2023) · International Journal of Molecular Sciences · doi:10.3390/ijms241713480 · Cited by 4
Mei, H., Simino, J. M., Li, L., Jiang, F., Bis, J. C., Davies, G., Hill, W. D., Xia, C., Gudnason, V. G., Yang, Q., et al. (2024) · Alzheimer s Research & Therapy · doi:10.1186/s13195-023-01376-6 · Cited by 3
“The connection between VDM-associated variants and meQTLs in hippocampal tissue echoed the association of Alzheimer’s neuropathology and disease with methylation changes in brain tissue (including the hippocampus) [36–38].”
Self-citationLee, S., Lee, H., Chun, J. M., Jung, B., Kim, J., Moon, C., Kim, J., & Kim, J. (2024) · Journal of Integrative Neuroscience · doi:10.31083/j.jin2307138 · Cited by 5
Effects of Pterostilbene on the Cell Division Cycle of a Neuroblastoma Cell Line
Bruno, F., Naselli, F., Brancato, D., Volpes, S., Cardinale, P. S., Saccone, S., Federico, C., & Caradonna, F. (2024) · Nutrients · doi:10.3390/nu16234152 · Cited by 4
Genetic Markers of Postmortem Brain Iron
Cornelis, M. C., Fazlollahi, A., Bennett, D. A., Schneider, J. A., & Ayton, S. (2025) · Journal of Neurochemistry · doi:10.1111/jnc.16309 · Cited by 3
Self-citationTranscriptome analysis of early‐ and late‐onset Alzheimer's disease in Korean cohorts
Han, S., Hwang, J., Park, T., Pyun, J., Lee, J., Park, J. S., Bice, P. J., Liu, S., Yun, S., Jeong, J., et al. (2025) · Alzheimer s & Dementia · doi:10.1002/alz.14563 · Cited by 2
Omics and Epigenetics of Polyphenol-Mediated Neuroprotection: The Curcumin Perspective
Mythri, R. B., & Bharath, M. M. S. (2019) · Elsevier eBooks · doi:10.1016/b978-0-12-815461-8.00009-8 · Cited by 3
Methylation analysis of DNA in Alzheimer's disease
Coppedè, F. (2020) · Elsevier eBooks · doi:10.1016/b978-0-12-815868-5.00017-7 · Cited by 3
Probing the epigenome by EWAS: A new era in brain disease research
Lill, C. M., & Bertram, L. (2015) · Movement Disorders · doi:10.1002/mds.26143 · Cited by 3
“Nature Neuroscience recently published two “epigenomewide association studies” (EWAS) assessing the role of differential DNA methylation in Alzheimer’s disease (AD).(1,2) The analyses were performed on post-mortem cortical brain tissues from several large cohorts comprising more than 1,000 individuals and represent by…”
BackgroundMethodInfluentialHistone and DNA Methylome in Neurodegenerative, Neuropsychiatric and Neurodevelopmental Disorders
Rani, H., & Mahadevan, V. (2019) · RNA technologies · doi:10.1007/978-3-030-14792-1_4 · Cited by 3
Li, C., Shangguan, Y., Zhu, P., Dai, W., Tang, D., Ou, M., & Dai, Y. (2021) · Hereditas · doi:10.1186/s41065-021-00204-x · Cited by 3
Evidence of a recombination rate valley in human regulatory domainsPreprint
Liu, Y., Sarkar, A., & Kellis, M. (2016) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/048827 · Cited by 3
“…whole blood using 168 individuals profiled by the Gene-Tissue Expression (GTEx) Consortium(Consortium 2013), and 809,577 meQTL links between regulatory regions and CpG methylation measured in human brain primarily in promoter regions in the ROS/MAP cohort of 575 individuals(De Jager et al. 2014).”
MethodSelf-citationscMD: cell type deconvolution using single-cell DNA methylation referencesPreprint
Cai, M., Zhou, J., McKennan, C. G., & Wang, J. (2023) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2023.08.03.551733 · Cited by 3
Qian, Y., Tang, X., Shen, R., Lu, Y., Ding, J., Qian, X., & Zhang, C. (2024) · The Canadian Journal of Psychiatry · doi:10.1177/07067437241300947 · Cited by 2
From aging to Alzheimer’s disease: concordant brain DNA methylation changes in late life
Lukacsovich, D., Young, J. I., Gomez, L., Schmidt, M. A., Zhang, W. Y., Kunkle, B. W., Chen, X. S., Martin, E. R., Wang, L., & Initiative, A. D. N. (2026) · Genome Medicine · doi:10.1186/s13073-026-01698-8 · Cited by 2
“To this end, we performed a meta-analysis of two large cohorts of postmortem prefrontal cortex brain samples from subjects over 65 years old, generated by the Religious Orders Study and Rush Memory and Aging Project (together as ROSMAP [22]) and the Brains for Dementia Research (BDR) study [23].”
Xu, X., Li, J., Wang, F., Xue, K., He, J., Meng, X., & Shen, Y. (2025) · Neural Regeneration Research · doi:10.4103/nrr.nrr-d-25-00184 · Cited by 2
“For the MSBB and Mayo databases, ethical protocols were established through the AMP-AD program under the guidance of the respective institutions.”
Probabilistic modelling of single-cell bisulfite sequencing data with MethylVI
Weinberger, E., Qiu, W., Tian, W., Zeng, Q., Ergen, C., Kronfeld, O., Kim, M., Yosef, N., Ecker, J. R., & Lee, S. (2026) · Nature Machine Intelligence · doi:10.1038/s42256-026-01225-9 · Cited by 2
“Notably, we found that MethylVI achieved greater agreement with bulk data using the MethSCAn features compared with when using gene body features in Fig.”
InfluentialJiakponnah, N. N., Biose, I. J., Fischer, T., Cherry, K. E., Cronin, J., Jazwinski, S. M., & Kim, S. (2026) · npj Dementia · doi:10.1038/s44400-026-00085-9 · Cited by 2
Epigenetic noise in the aging brain: tuning neuronal vulnerability to neurodegeneration
Yin, X., Zhang, H., Zhang, R., Xue, J., & Hou, Y. (2026) · Trends in Neurosciences · doi:10.1016/j.tins.2026.04.006 · Cited by 3
Genetic and Epigenetic Architecture of Alzheimer’s Dementia
Cervera‐Carles, L., & Clarimón, J. (2016) · Current Genetic Medicine Reports · doi:10.1007/s40142-016-0086-1 · Cited by 3
Mechanisms underlying Alzheimer’s disease
Bugaj, A. M., & Jermakow, N. (2016) · Neuropsychiatria i Neuropsychologia · doi:10.5114/nan.2016.63650 · Cited by 2
Rogue gene networks gone awry in Alzheimer's disease
Miyoshi, E., & Swarup, V. (2021) · Neural Regeneration Research · doi:10.4103/1673-5374.313032 · Cited by 2
“Previous studies have identified AD-associated DNA methylation, as well as H3K9ac marks associated with Aβ or tau pathology (De Jager et al., 2014; Klein et al., 2019).”
The Human Epigenome—Implications for the Understanding of Human Disease
Esteller, M. (2017) · Elsevier eBooks · doi:10.1016/b978-0-12-802761-5.00008-0 · Cited by 2
Aging, Dementia, and Alzheimer Disease
Sontheimer, H. W. (2021) · Elsevier eBooks · doi:10.1016/b978-0-12-821228-8.00004-4 · Cited by 2
Epigenomic Measurements in Brain Tissues
Satterlee, J. S. (2022) · Springer eBooks · doi:10.1007/978-3-030-88832-9_148 · Cited by 2
Zhou, B., Zheng, Y., Suo, Z., Zhang, M., Xu, W., Wang, L., Ge, D., Qu, Y., Wang, Q., Zheng, H., et al. (2024) · PeerJ · doi:10.7717/peerj.17775 · Cited by 2
“1 were implicated in the regulation of Ank1, which is crucial to AD pathogenesis, and hypermethylated Ank1 gene domain was found in the entorhinal cortex of AD patients ( De Jager et al., 2014 ).”
BackgroundGrodstein, F., Lemos, B., Yang, J., Lopes, K. D. P., Vialle, R. A., Seyfried, N. T., Wang, Y., Shireby, G. L., Hannon, E. J., Thomas, A. J., et al. (2024) · Epigenetics · doi:10.1080/15592294.2024.2392050 · Cited by 2
Self-citationZhang, Y., Mao, Y., Fu, Q.-Q., Zhang, X., Zhang, D., Yue, Y., & Yang, C. (2024) · Frontiers in Neuroscience · doi:10.3389/fnins.2024.1414603 · Cited by 2
“…the corresponding citations were the prospective cohort study of DNA methylation changes in relation to neuropathology by De Jager et al. in 2014 (De Jager et al., 2014), the cohort study on miRNAs altered in AD by Lau et al. (2013), and the introduction of DNA methylation age by Horvath (2013),…”
BackgroundMethodInfluentialMicroRNAs signatures as potential molecular markers in mild cognitive impairment: a meta-analysis
Vargas-Rondón, N., González‐Giraldo, Y., Fonseca, Á. Y. G., González, J., & Aristizábal-Pachón, A. F. (2025) · Frontiers in Aging Neuroscience · doi:10.3389/fnagi.2024.1524622 · Cited by 2
Ma, T., Liu, J., Liang, D., Ebelt, S., Steenland, K., Levey, A. I., Lah, J. J., Wingo, A. P., Wingo, T. S., & Hüls, A. (2026) · Molecular Psychiatry · doi:10.1038/s41380-026-03662-9 · Cited by 2
“…which is involved in APP post-translational processing [18]; DUSP22, which may regulate tau phosphorylation [19]; ANK1, which plays a role in neuronal membrane compartmentalization [20, 21]; and the HOXA gene cluster, which contributes to embryonic development and neuroprotective function [22, 23].”
Deng, J., Huang, K., Wang, J., Zhong, W., Xu, Y., & Kong, W. (2025) · Neurocomputing · doi:10.1016/j.neucom.2025.131121 · Cited by 2
Recent studies of the genetics of complex diseases associated with impaired cognitive functions
Бочарова, А. В., & Степанов, В. А. (2022) · Сибирский журнал клинической и экспериментальной медицины · doi:10.29001/2073-8552-2021-36-4-37-44 · Cited by 2
Could ecosystem management provide a new framework for Alzheimer's disease?
Hubin, E., Vanschoenwinkel, B. J., Broersen, K., Deyn, P. P. D., Koedam, N. E., van Nuland, N. A. J., & Pauwels, K. (2015) · Alzheimer s & Dementia · doi:10.1016/j.jalz.2015.07.491 · Cited by 2
Genome-Wide Epigenetic Studies in Neurologic Diseases
Woodhoo, A. (2015) · Elsevier eBooks · doi:10.1016/b978-0-12-800140-0.00010-8 · Cited by 2
The Emerging Potential for Epigenetic Therapeutics in Noncancer Disorders
Bell, C. G. (2016) · Elsevier eBooks · doi:10.1016/b978-0-12-802208-5.00017-5 · Cited by 2
Epigenetic Mechanisms as Key Regulators in Disease
Boukaba, A., Sanchis‐Gomar, F., & García‐Giménez, J. L. (2015) · Elsevier eBooks · doi:10.1016/b978-0-12-801899-6.00003-6 · Cited by 3
Driver or Passenger: Epigenomes in Alzheimer’s Disease
Hoffmann, A., Sportelli, V., Ziller, M. J., & Spengler, D. (2017) · Epigenomes · doi:10.3390/epigenomes1010005 · Cited by 2
Evaluating the role of genetic variation in the epigenome in health and disease
Roostaei, T., & Jager, P. L. D. (2018) · Multiple Sclerosis Journal · doi:10.1177/1352458517751651 · Cited by 2
Epigenetic Landscape in Leukemia and Its Impact on Antileukemia Therapeutics
He, B., Hlavka-Zhang, J., Lock, R. B., & Jing, D. (2019) · IntechOpen eBooks · doi:10.5772/intechopen.84184 · Cited by 2
Deconstructing the epigenomic architecture of human neurodegeneration
Jager, P. L. D. (2021) · Neurobiology of Disease · doi:10.1016/j.nbd.2021.105331 · Cited by 2
“Here, we use data from the dorsolateral prefrontal cortex 2 to illustrate (1) the significance of the association of individual CpG dinucleotides sampled by the HumanMethylation450 array to tau burden and (2) the extent of correlation in methylation levels among neighboring CpGs.”
InfluentialSoltaninejad, H., Asadollahi, M. A., Hosseinkhani, S., Hosseini, M., & Ganjali, M. R. (2018) · Methods and Applications in Fluorescence · doi:10.1088/2050-6120/aae176 · Cited by 2
Lee, S., Lee, J. H., Lee, R. H., Shin, Y. P., Kim, I.-W., Seo, M., Kim, M.-A., Hwang, J. S., Shin, D., & Lee, H. (2020) · Gene · doi:10.1016/j.gene.2020.145188 · Cited by 2
Ying, Y., Li, X., & Chen, Y. (2022) · Journal of Clinical Laboratory Analysis · doi:10.1002/jcla.24634 · Cited by 2
Luningham, J. M., Chen, J., Tang, S., Jager, P. L. D., Bennett, D. A., Buchman, A. S., & Yang, J. (2020) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2020.03.05.979187 · Cited by 2
Self-citationLiu, S., Chen, Y., Wang, F., Jiang, Y. W., Duan, F., Xia, Y., Ning, Z., Li, M., Qiu, W., Ma, C., et al. (2021) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2021.02.04.922880 · Cited by 2
Vito, R. D., Grabski, I. N., Aguiar, D., Schneper, L. M., Verma, A., Fernandez, J. C., Mitchell, C. M., Bell, J. T., McLanahan, S., Notterman, D. A., et al. (2021) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2021.05.20.444959 · Cited by 2
“As a consequence, DNA methylation has been found to play an important role in the regulation of many diseases, including cancer [70, 37], neuropsychiatric and neurodegenerative diseases [31], diabetes [75], and cardiovascular disease [74].”
BackgroundEpigenetic signatures of regional tau pathology and cognition in the aging and pathological brainPreprint
Goldberg, D. C., Wadhwani, A. R., Dehghani, N., Sreepada, L. P., Fu, H., Jager, P. L. D., Bennett, D. A., Wolk, D. A., Lee, E. B., White, C. L., et al. (2024) · medRxiv · doi:10.1101/2024.11.07.24316933 · Cited by 2
Self-citationMulti-omic subtypes of Alzheimer’s dementia are differentially associated with psychological traitsPreprint
Zammit, A. R., Yu, L., Poole, V. N., Arfanakis, K., Schneider, J. A., Petyuk, V., Jager, P. L. D., Kaddurah-Daouk, R. F., Iturria‐Medina, Y., & Bennett, D. A. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2025.02.21.639584 · Cited by 2
“51-53 We previously used the machine-learning mcTI algorithm to generate a brain molecular pseudotime of AD dementia relative to NCI, and three brain molecular subtypes reflecting different molecular pathways from NCI to AD dementia based on the numbers and types of omics.”
Self-citationDistinct cerebrospinal fluid DNA methylation signatures linked to Alzheimer’s diseasePreprint
Radoš, M., Klotz, S., Regelsberger, G., Stögmann, E., Landegger, L. D., & Fetahu, I. S. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2025.04.03.647115 · Cited by 2
Biological Age and Age Acceleration Predict Alzheimer’s Disease Plasma Biomarker LevelsPreprint
Eissman, J. M., Ma, Y., Qiao, M., Reyes‐Dumeyer, D., Piriz, A. L., Lee, A., Lantigua, R., Medrano, M. Z., Mejía, D. R., Honig, L. S., et al. (2025) · medRxiv · doi:10.1101/2025.05.22.25328181 · Cited by 2
“Brain DNAm changes have associated with AD neuropathology 6,7 , including in preclinical AD 6 , and accelerated epigenetic age has correlated with progression to MCI and AD as well as with cognitive decline 8 .”
Self-citationMetaxakis, A., Gkikas, I., & Tavernarakis, N. (2022) · Elsevier eBooks · doi:10.1016/b978-0-12-823761-8.00027-6 · Cited by 1
Gerlando, R. D., Dragoni, F., Rizzo, B., Ferrari, R. R., Zardini, E., Ramusino, M. C., Perini, G., Costa, A. C., Poloni, T. E., Pansarasa, O., et al. (2024) · Aging and Disease · doi:10.14336/ad.2024.0350 · Cited by 1
“On this basis, different epigenome-wide associations studies (EWAS) have identified several genes and regions that appear to be differentially methylated in people affected by AD [19,20].”
Don't ignore the middle: Distinct mnemonic functions of intermediate hippocampus
Whitley, K. E., Briggs, S. B., Sharma, K., & Parent, M. B. (2024) · Hippocampus · doi:10.1002/hipo.23629 · Cited by 1
“…are found almost exclusively in iHC (Dong et al., 2009; Thompson et al., 2008), are neurotrophic genes implicated in depression, neurodegeneration, and gliomas (Bai et al., 2022; De Jager et al., 2014; Deng et al., 2022; Fan et al., 2024; Liao et al., 2023; Song et al., 2023; Zhao et al., 2023).”
Nutraceuticals as an Intervention for Healthy Brain Ageing
Sah, P., Tomtheelnganbee, E., Syiem, D., & Sharma, R. (2024) · Healthy ageing and longevity · doi:10.1007/978-3-031-68513-2_13 · Cited by 1
Vicente, C. T., Niranjan, T., Coopman, E., Faura, J., Alidadiani, S., Schrauwen, C., Matchett, B. J., Heeman, B., den Broeck, M. V., Coster, W. D., et al. (2025) · Molecular Neurodegeneration · doi:10.1186/s13024-025-00869-2 · Cited by 1
Self-citationDuckhorn, J. C., Kim, D. K., & Huang, Y. A. (2025) · Neural Regeneration Research · doi:10.4103/nrr.nrr-d-25-00243 · Cited by 2
“BIN1 was found to be a top hit in several epigenome-wide association studies examining DNA methylation patterns in AD patient brain tissues, including those from preclinical stages (De Jager et al., 2014; Yu et al., 2015), suggesting epigenetic changes occur early in the disease process.”
Molecular pathways and biomarkers associated with age-related cognitive decline
Mitra, S., Pandey, S., Gill, A., Roy, A., Dutta, S., Kumar, A., Ali, M., & Chawla, G. (2025) · Academia Biology · doi:10.20935/acadbiol7909 · Cited by 2
Jian, L., Liu, Y., & Peng, W. (2026) · Ageing Research Reviews · doi:10.1016/j.arr.2026.103099 · Cited by 1
Kinzhebay, A., Zhanymbetova, A., Yerkos, A., Zhetpisbay, Z., Imanbek, R., & Salybekov, A. A. (2026) · International Journal of Molecular Sciences · doi:10.3390/ijms27104377 · Cited by 1
“Among these, hypermethylation of ANK1 has been most consistently observed across independent cohorts and appears early in disease progression [228].”
Bhasha, S., Chintada, V., Munikumar, D. M., Maddineni, J., Nagulavancha, R., Malempati, T., Gadda, S. S., Sankepally, K. K. R., & Pradeepkiran, J. A. (2026) · Ageing Research Reviews · doi:10.1016/j.arr.2026.103186 · Cited by 1
Karp, J. F., Butters, M. A., Crivelli, L., Hermida, A. P., Gastiazoro, M. P., Gatchel, J. R., Gebara, M. A., Gentry, M. T., Mimura, M., Voshaar, R. C. O., et al. (2026) · International Psychogeriatrics · doi:10.1016/j.inpsyc.2026.100226 · Cited by 1
The emerging role of iRhom pseudoproteases in cytokine biology, inflammation and cancer
Chan, S., Dmello, R., & Saad, M. I. (2026) · Biochimica et Biophysica Acta (BBA) - Molecular Cell Research · doi:10.1016/j.bbamcr.2026.120201 · Cited by 1
Personalized single-cell transcriptomics reveals molecular diversity in Alzheimer’s disease
Chandrashekar, P. B., Alatkar, S. A., Kalafut, N. C., Jin, T., Gupta, C., Burczak, R. C., Xiang, H., Liu, S., Li, A. Z., Hong, A., et al. (2026) · Nature Communications · doi:10.1038/s41467-026-72310-1 · Cited by 2
“CDH23 has altered RNA expression in AD 85 , and BCL6 overexpression mediates A β -induced neuronal damage and promotes SH-SY5Y cell survival 86 .”
Self-citationBhaskar, U., Kos, M. Z., & Carless, M. A. (2026) · Alzheimer s & Dementia · doi:10.1002/alz.71864 · Cited by 1
Identifying microRNAs related to Alzheimer's disease from differential methylation signatures
Roy, A., & Bhattacharyya, M. (2016) · Gene Reports · doi:10.1016/j.genrep.2016.04.006 · Cited by 1
Use of Chromatin Changes as Biomarkers
Hlady, R. A., & Robertson, K. D. (2016) · Elsevier eBooks · doi:10.1016/b978-0-12-802389-1.00022-8 · Cited by 1
Circadian Plasticity of Chromatin States
Belden, W. J. (2016) · Elsevier eBooks · doi:10.1016/b978-0-12-803395-1.00016-2 · Cited by 1
Weksberg, R., Butcher, D. T., Cytrynbaum, C. S., Siu, M. T., Choufani, S., & Tycko, B. (2019) · Elsevier eBooks · doi:10.1016/b978-0-12-812537-3.00005-6 · Cited by 1
The epigenetics of neurodegenerative diseases
Coppedè, F. (2023) · Elsevier eBooks · doi:10.1016/b978-0-443-18661-5.00001-4 · Cited by 1
DIMT1 and Ribosomal Function: How Ribosomal Biogenesis Influences Lifespan and Energy Homeostasis
Svanishvili, G. (2024) · Premier journal of science. · doi:10.70389/pjs.100027 · Cited by 1
Toward a Systematic Understanding of Epigenetic Contribution to Normal Aging and Alzheimer’s Disease
Zhang, Z., Cui, X., & Zhang, W. (2025) · RNA technologies · doi:10.1007/978-3-031-91072-2_16 · Cited by 1
The Role of Methylation in Neurodegenerative Diseases: Insights From a Bibliometric Study
Xu, J., Lu, J., Kuang, T., Wang, D., Dong, Z., Chen, M., Liu, C., Ge, G., Yuan, T., & Qin, Z. (2025) · Brain and Behavior · doi:10.1002/brb3.70732 · Cited by 1
Delineating blood DNA methylation biomarkers for Alzheimer's disease
Pishva, E., Bertram, L., & Lunnon, K. (2025) · Alzheimer s & Dementia · doi:10.1002/alz.70646
Self-citationAssociations of stable psychological traits with multi-omic subtypes of Alzheimer’s dementia
Zammit, A. R., Yu, L., Poole, V. N., Tasaki, S., Vialle, R. A., Arfanakis, K., Schneider, J. A., Petyuk, V., Jager, P. L. D., Kaddurah‐Daouk, R., et al. (2026) · Translational Psychiatry · doi:10.1038/s41398-026-04195-z · Cited by 2
“…molecular AD subtypes ROSMAP brain multi-omic data contain DNA methylation (DNAm) with Illumina 450 array, bulk next generation RNA sequencing, targeted protein expression with selected reaction monitoring, and metabolite level (metabolon) from DLPFC, generated as described previously [39 – 41].”
Self-citationHirano, S., & Imai-Okano, K. (2016) · Springer eBooks · doi:10.1007/978-4-431-56033-3_15 · Cited by 1
Day, J. J. (2017) · Elsevier eBooks · doi:10.1016/b978-0-12-801596-4.00006-x · Cited by 1
What is the epigenome and is it involved in multiple sclerosis?
Lee, J. Y., & Jager, P. L. D. (2018) · Multiple Sclerosis Journal · doi:10.1177/1352458517750769 · Cited by 1
Metadata
- Authors
- 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., Tang, A., Raj, T., Replogle, J., Brodeur, W., Gabriel, S., Chai, H. S., Younkin, C., Younkin, S. G., Zou, F., Szyf, M., Epstein, C. B., Schneider, J. A., Bernstein, B. E., Meissner, A., Ertekin-Taner, N., Chibnik, L. B., Kellis, M., Mill, J., & Bennett, D. A.
- Affiliations
- Broad Institute (US)
- King's College London (GB)
- Mayo Clinic (US)
- Rush University Medical Center (US)
- Brigham and Women's Hospital (US)
- Corresponding author
- Bennett, David A
- ORCID
- Venue
- Nature Neuroscience
- Published
- 2014-08-17
- Volume
- 17
- Issue
- 9
- Pages
- 1156-1163
- ISSN
- 1097-6256 (ISSN-L)
- 1546-1726
- PMC
- PMC4292795
- OpenAlex
- W2074750860
- Cited by
- 956
- References
- 62
- Citations by year
- 2026: 49 · 2025: 77 · 2024: 74 · 2023: 69 · 2022: 82 · 2021: 94 · 2020: 93 · 2019: 94 · 2018: 93 · 2017: 71 · 2016: 84 · 2015: 59 · 2014: 17
- FWCI
- 31.73
- 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)
- eScholarship (California Digital Library) (submittedVersion)
- Figshare (submittedVersion)
- Research Portal (King's College London) (submittedVersion)
- Open Research Exeter (University of Exeter) (submittedVersion)
- Funders
- National Institute on Aging (R01AG017917, P30-AG 10161, K25AG041906, R01AG036039, R01‐AG17917, R01 AG15819, R01AG018023, R01AG036836, U01AG046152, R01-AG18023, AG036039, R01AG036042, R01AG015819, P30AG010161, RC2AG036547, R01AG032990, U01AG046139, RF1AG015819, RF1AG036042, P50AG016574)
- National Human Genome Research Institute (R01HG004037)
- National Institute of Neurological Disorders and Stroke (R01NS080820)
- 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
- Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Alzheimer's disease research and treatments
- Keywords
- Alzheimer's disease, DNA methylation, ANK1, BIN1, RHBDF2, ABCA7, differentially methylated regions, gene expression, preclinical Alzheimer's disease, epigenome-wide association study
- MeSH terms
- Aged, Aged, 80 and over, Alzheimer Disease, Amyloidosis, Brain, Carrier Proteins, Female, Humans, Male, Middle Aged, Nuclear Proteins, Ankyrins, CpG Islands, DNA Methylation, Genetic Predisposition to Disease, Tumor Suppressor Proteins, Intracellular Signaling Peptides and Proteins, Adaptor Proteins, Signal Transducing, Genome-Wide Association Study, Protein Interaction Maps
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