Genome and epigenome wide studies of neurological protein biomarkers in the Lothian Birth Cohort 1936
Open accessAbstract
Although plasma proteins may serve as markers of neurological disease risk, the molecular mechanisms responsible for inter-individual variation in plasma protein levels are poorly understood. Therefore, we conduct genome- and epigenome-wide association studies on the levels of 92 neurological proteins to identify genetic and epigenetic loci associated with their plasma concentrations (n = 750 healthy older adults). We identify 41 independent genome-wide significant (P < 5.4 × 10−10) loci for 33 proteins and 26 epigenome-wide significant (P < 3.9 × 10−10) sites associated with the levels of 9 proteins. Using this information, we identify biological pathways in which putative neurological biomarkers are implicated (neurological, immunological and extracellular matrix metabolic pathways). We also observe causal relationships (by Mendelian randomisation analysis) between changes in gene expression (DRAXIN, MDGA1 and KYNU), or DNA methylation profiles (MATN3, MDGA1 and NEP), and altered plasma protein levels. Together, this may help inform causal relationships between biomarkers and neurological diseases.
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CSF Siglec-9, plasma sICAM-1, and brain PPAC have been replicated in other studies using a different proteomic approach, indicating these findings may not be driven by platform.
“CSF Siglec-9, plasma sICAM-1, and brain PPAC have been replicated in other studies16,29,31,32 using a different proteomic approach, which indicates that these findings may not be driven by platform.”
From Genomic atlas of the proteome from brain, CSF and plasma prioritizes proteins implicated in neurological disorders (2021) · cites this paper as [29]
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limma powers differential expression analyses for RNA-sequencing and microarray studies
Ritchie, M. E., Phipson, B., Wu, D., Hu, Y., Law, C. W., Shi, W., & Smyth, G. K. (2015) · Nucleic Acids Research · doi:10.1093/nar/gkv007 · Cited by 40,458 · see citing works
ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
Wang, K., Li, M., & Hakonarson, H. H. (2010) · Nucleic Acids Research · doi:10.1093/nar/gkq603 · Cited by 14,380 · see citing works
The Molecular Signatures Database Hallmark Gene Set Collection
Liberzon, A., Birger, C., Thorvaldsdóttir, H., Ghandi, M., Mesirov, J. P., & Tamayo, P. (2015) · Cell Systems · doi:10.1016/j.cels.2015.12.004 · Cited by 13,807 · see citing works
The MR-Base platform supports systematic causal inference across the human phenome
Hemani, G., Zheng, J., Elsworth, B., Wade, K. H., Haberland, V., Baird, D., Laurin, C., Burgess, S., Bowden, J., Langdon, R., et al. (2018) · eLife · doi:10.7554/elife.34408 · Cited by 7,959 · see citing works
The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans
The GTEx Consortium, Ardlie, K. G., Deluca, D. S., Segrè, A. V., Sullivan, T. J., Young, T. R., Gelfand, E. T., Trowbridge, C. A., Maller, J. B., Tukiainen, T., et al. (2015) · Science · doi:10.1126/science.1262110 · Cited by 5,062 · see citing works
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
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
Mapping identifiers for the integration of genomic datasets with the R/Bioconductor package biomaRt
Durinck, S., Spellman, P. T., Birney, E., & Huber, W. K. (2009) · Nature Protocols · doi:10.1038/nprot.2009.97 · Cited by 4,081 · see citing works
DNA methylation arrays as surrogate measures of cell mixture distribution
Houseman, E. A., Accomando, W. P., Koestler, D. C., Christensen, B. C., Marsit, C. J., Nelson, H. H., Wiencke, J. K., & Kelsey, K. T. (2012) · BMC Bioinformatics · doi:10.1186/1471-2105-13-86 · Cited by 3,175 · see citing works
Unraveling the polygenic architecture of complex traits using blood eQTL metaanalysis
Võsa, U., Claringbould, A., Westra, H.-J., Bonder, M. J., Deelen, P., Zeng, B., Kirsten, H., Saha, A., Kreuzhuber, R., Kasela, S., et al. (2018) · doi:10.1101/447367 · Cited by 2,607 · see citing works
Self-citationVõsa, U., Claringbould, A., Westra, H.-J., Bonder, M. J., Deelen, P., Zeng, B., Kirsten, H., Saha, A., Kreuzhuber, R., Yazar, S., et al. (2021) · Nature Genetics · doi:10.1038/s41588-021-00913-z · Cited by 2,607 · see citing works
BioMart and Bioconductor: a powerful link between biological databases and microarray data analysis
Durinck, S., Moreau, Y., Kasprzyk, A., Davis, S. R., Moor, B. D., Brāzma, A., & Huber, W. K. (2005) · Computer applications in the biosciences · doi:10.1093/bioinformatics/bti525 · Cited by 2,327 · see citing works
Jansen, I. E., Savage, J. E., Watanabe, K., Bryois, J., Williams, D. M., Steinberg, S., Sealock, J., Karlsson, I. K., Hägg, S., Athanasiu, L., et al. (2019) · Nature Genetics · doi:10.1038/s41588-018-0311-9 · Cited by 2,277 · see citing works
Genomic atlas of the human plasma proteome
Sun, B. B., Maranville, J. C., Peters, J. E., Stacey, D., Staley, J. R., Blackshaw, J., Burgess, S., Jiang, T., Paige, E., Surendran, P., et al. (2018) · Nature · doi:10.1038/s41586-018-0175-2 · Cited by 2,268 · see citing works
MaCH: using sequence and genotype data to estimate haplotypes and unobserved genotypes
Li, Y., Willer, C. J., Ding, J., Scheet, P., & Abecasis, G. R. (2010) · Genetic Epidemiology · doi:10.1002/gepi.20533 · Cited by 1,843 · see citing works
Aptamer-Based Multiplexed Proteomic Technology for Biomarker Discovery
Gold, L., Ayers, D., Bertino, J., Bock, C., Bock, A., Brody, E. N., Carter, J., Dalby, A. B., Eaton, B. E., Fitzwater, T., et al. (2010) · PLoS ONE · doi:10.1371/journal.pone.0015004 · Cited by 1,754 · see citing works
Genetic Investigation of ANthropometric Traits (GIANT) Consortium, Yang, J., DIAbetes Genetics Replication And Meta-analysis (DIAGRAM) Consortium, Ferreira, T., Morris, A. P., Medland, S. E., Madden, P. A. F., Heath, A. C., Martin, N. G., Montgomery, G. W., et al. (2012) · Nature Genetics · doi:10.1038/ng.2213 · Cited by 1,712 · see citing works
Self-citationPhenoScanner: a database of human genotype-phenotype associations.
Staley, J. R., Blackshaw, J., Kamat, M. A., Ellis, S., Surendran, P., Sun, B. B., Paul, D. S., Freitag, D., Burgess, S., Danesh, J., et al. (2016) · Bioinformatics · doi:10.1093/bioinformatics/btw373 · Cited by 1,479 · see citing works
Recent Developments in Mendelian Randomization Studies
Zheng, J., Baird, D. A., Borges, M. C., Bowden, J., Hemani, G., Haycock, P., Evans, D. M., & Smith, G. D. (2017) · Current Epidemiology Reports · doi:10.1007/s40471-017-0128-6 · Cited by 1,132 · see citing works
Li, Y., Willer, C., Sanna, S., & Abecasis, G. (2009) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev.genom.9.081307.164242 · Cited by 990 · see citing works
Revisiting biomarker discovery by plasma proteomics
Geyer, P. E., Holdt, L. M., Teupser, D., & Mann, M. (2017) · Molecular Systems Biology · doi:10.15252/msb.20156297 · Cited by 917 · see citing works
Chen, Y.-A., Lemire, M., Choufani, S., Butcher, D., Grafodatskaya, D., Zanke, B., Gallinger, S., Hudson, T. J., & Weksberg, R. (2013) · Epigenetics · doi:10.4161/epi.23470 · Cited by 908 · see citing works
Connecting genetic risk to disease end points through the human blood plasma proteome
Suhre, K., Arnold, M., Bhagwat, A. M., Cotton, R. J., Engelke, R., Raffler, J., Sarwath, H., Thareja, G., Wahl, A., DeLisle, R. K., et al. (2017) · Nature Communications · doi:10.1038/ncomms14357 · Cited by 800 · see citing works
Genome-wide association studies establish that human intelligence is highly heritable and polygenic
Davies, G., Tenesa, A., Payton, A., Yang, J., Harris, S. E., Liewald, D., Ke, X., Le Hellard, S., Christoforou, A., Luciano, M., et al. (2011) · Molecular Psychiatry · doi:10.1038/mp.2011.85 · Cited by 608 · see citing works
Self-citationSystematic identification of genetic influences on methylation across the human life course
Gaunt, T. R., Shihab, H. A., Hemani, G., Min, J. L., Woodward, G., Lyttleton, O., Zheng, J., Duggirala, A., McArdle, W. L., Ho, K., et al. (2016) · Genome Biology · doi:10.1186/s13059-016-0926-z · Cited by 598 · see citing works
Disease variants alter transcription factor levels and methylation of their binding sites
Bonder, M. J., Luijk, R., Zhernakova, D. V., Moed, M., Deelen, P., Vermaat, M., van Iterson, M., van Dijk, F., van Galen, M., Bot, J. J., et al. (2016) · Nature Genetics · doi:10.1038/ng.3721 · Cited by 462 · see citing works
Jandus, C., Boligan, K. F., Chijioke, O., Liu, H., Dahlhaus, M., Démoulins, T., Schneider, C., Wehrli, M., Hunger, R. E., Baerlocher, G. M., et al. (2014) · Journal of Clinical Investigation · doi:10.1172/jci65899 · Cited by 446 · see citing works
Deary, I. J., Gow, A. J., Taylor, M. D., Corley, J., Brett, C. E., Wilson, V., Campbell, H., Whalley, L. J., Visscher, P. M., Porteous, D. J., et al. (2007) · BMC Geriatrics · doi:10.1186/1471-2318-7-28 · Cited by 442 · see citing works
Self-citationYao, C., Chen, G., Song, C., Keefe, J., Mendelson, M., Huan, T., Sun, B. B., Laser, A., Maranville, J. C., Wu, H., et al. (2018) · Nature Communications · doi:10.1038/s41467-018-05512-x · Cited by 431 · see citing works
Cohort Profile Update: The Lothian Birth Cohorts of 1921 and 1936
Taylor, A. M., Pattie, A., & Deary, I. J. (2018) · International Journal of Epidemiology · doi:10.1093/ije/dyy022 · Cited by 235 · see citing works
Self-citationKim, S., Swaminathan, S., Shen, L., Risacher, S. L., Nho, K., Foroud, T., Shaw, L. M., Trojanowski, J. Q., Potkin, S. G., Huentelman, M. J., et al. (2011) · Neurology · doi:10.1212/wnl.0b013e318204a397 · Cited by 206 · see citing works
Estimation of a significance threshold for epigenome-wide association studies
Saffari, A., Silver, M. J., Zavattari, P., Moi, L., Columbano, A., Meaburn, E. L., & Dudbridge, F. (2018) · Genetic Epidemiology · doi:10.1002/gepi.22086 · Cited by 183 · see citing works
Genetic and environmental exposures constrain epigenetic drift over the human life coursePreprint
Shah, S. H., McRae, A., Marioni, R., Harris, S. E., Gibson, J., Henders, A., Redmond, P., Cox, S. R., Pattie, A., Corley, J., et al. (2014) · Genome Research · doi:10.1101/gr.176933.114 · Cited by 166 · see citing works
Self-citationSweet escape: Sialic acids in tumor immune evasion
Büll, C., den Brok, M. H., & Adema, G. J. (2014) · Biochimica et Biophysica Acta (BBA) - Reviews on Cancer · doi:10.1016/j.bbcan.2014.07.005 · Cited by 158 · see citing works
Guo, H., Fortune, M. D., Burren, O. S., Schofield, E. C., Todd, J. A., & Wallace, C. (2015) · Human Molecular Genetics · doi:10.1093/hmg/ddv077 · Cited by 149 · see citing works
OSCA: a tool for omic-data-based complex trait analysis
Zhang, F., Chen, W., Zhu, Z., Zhang, Q., Nabais, M. F., Qi, T., Deary, I. J., Wray, N. R., Visscher, P. M., McRae, A. F., et al. (2019) · Genome biology · doi:10.1186/s13059-019-1718-z · Cited by 144 · see citing works
Self-citationTargeting sialic acid–Siglec interactions to reverse immune suppression in cancer
Adams, O. J., Stanczak, M. A., von Gunten, S., & Laubli, H. P. (2017) · Glycobiology · doi:10.1093/glycob/cwx108 · Cited by 142 · see citing works
The sialyltransferase ST3GAL6 influences homing and survival in multiple myeloma
Glavey, S. V., Manier, S., Natoni, A., Sacco, A., Moschetta, M., Reagan, M. R., Murillo, L. S., Şahin, İ., Wu, P., Mishima, Y., et al. (2014) · Blood · doi:10.1182/blood-2014-03-560862 · Cited by 135 · see citing works
Kauwe, J. S. K., Bailey, M. H., Ridge, P. G., Perry, R., Wadsworth, M. E., Hoyt, K. L., Staley, L. A., Karch, C. M., Harari, O., Cruchaga, C., et al. (2014) · PLoS Genetics · doi:10.1371/journal.pgen.1004758 · Cited by 125 · see citing works
Yang, M., Yang, Y.-H., Lu, C.-Y., Jong, S.-B., Chen, L.-J., Lin, Y., Wu, S.-J., Chu, P., Chung, T., & Tyan, Y. (2012) · Journal of Proteomics · doi:10.1016/j.jprot.2012.04.017 · Cited by 88 · see citing works
Identification of cis-regulatory variation influencing protein abundance levels in human plasma
Lourdusamy, A., Newhouse, S., Lunnon, K., Proitsi, P., Powell, J. F., Hodges, A., Nelson, S. K., Stewart, A., Williams, S. A., Kłoszewska, I., et al. (2012) · Human Molecular Genetics · doi:10.1093/hmg/dds186 · Cited by 84 · see citing works
Ahsan, M., Ek, W. E., Rask‐Andersen, M., Karlsson, T., Lind-Thomsen, A., Enroth, S., Gyllensten, U., & Johansson, Å. (2017) · PLoS Genetics · doi:10.1371/journal.pgen.1007005 · Cited by 73 · see citing works
Alzheimer's disease gene signature says: beware of brain viral infections
Porcellini, E., Carbone, I., Ianni, M., & Licastro, F. (2010) · Immunity & Ageing · doi:10.1186/1742-4933-7-16 · Cited by 58 · see citing works
Narzo, A. D., Telesco, S., Brodmerkel, C. M., Argmann, C., Peters, L. A., Li, K., Kidd, B. A., Dudley, J. T., Cho, J. H., Schadt, E. E., et al. (2017) · PLoS Genetics · doi:10.1371/journal.pgen.1006565 · Cited by 51 · see citing works
Genome-wide quantitative trait loci mapping of the human cerebrospinal fluid proteome
Sasayama, D., Hattori, K., Ogawa, S., Yokota, Y., Matsumura, R., Teraishi, T., Hori, H., Ota, M., Yoshida, S., & Kunugi, H. (2016) · Human Molecular Genetics · doi:10.1093/hmg/ddw366 · Cited by 43 · see citing works
Zhou, K., Bellenguez, C., Sutherland, C. D., Hardie, D. G., Palmer, C., Donnelly, P., & Pearson, E. R. (2012) · Nature Genetics · doi:10.1038/ng.2234 · Cited by 40 · see citing works
Current status of biomarker research in neurology
Polívka, J., Polívka, J., Krakorová, K., Peterka, M., & Topolčan, O. (2016) · The EPMA Journal · doi:10.1186/s13167-016-0063-5 · Cited by 39 · see citing works
Proteomic methods for biomarker discovery and validation. Are we there yet?
Hathout, Y. (2015) · Expert Review of Proteomics · doi:10.1586/14789450.2015.1064771 · Cited by 33 · see citing works
Focusing on long non-coding RNA dysregulation in newly diagnosed multiple myeloma
Shen, Y., Feng, Y., Chen, H., Huang, L., Wang, F., Bai, J., Yang, Y., Wang, J., Zhao, W., Jia, Y., et al. (2018) · Life Sciences · doi:10.1016/j.lfs.2018.01.025 · Cited by 26 · see citing works
CD200 expression in patients with Multiple Myeloma: Another piece of the puzzle
Conticello, C., Giuffrida, R., Parrinello, N. L., Buccheri, S., Adamo, L., Sciuto, M. R., Colarossi, C., Aiello, E., Chiarenza, A., Romano, A., et al. (2013) · Leukemia Research · doi:10.1016/j.leukres.2013.08.006 · Cited by 23 · see citing works
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Suhre, K., McCarthy, M. I., & Schwenk, J. M. (2021) · Nature Reviews Genetics · doi:10.1038/s41576-020-0268-2 · Cited by 478 · see citing works
Multi-Omics Profiling for Health
Babu, M., & Snyder, M. P. (2023) · Molecular & Cellular Proteomics · doi:10.1016/j.mcpro.2023.100561 · Cited by 419 · see citing works
Yang, C., Farias, F. H. G., Ibanez, L., Suhy, A., Sadler, B., Fernandez, M. V., Wang, F., Bradley, J. L., Eiffert, B., Bahena, J. A., et al. (2021) · Nature Neuroscience · doi:10.1038/s41593-021-00886-6 · Cited by 290 · see citing works
Storm, C. S., Kia, D. A., Almramhi, M. M., Bandrés‐Ciga, S., Finan, C., Noyce, A. J., Kaiyrzhanov, R. B., Middlehurst, B., Tan, M. M. X., Houlden, H., et al. (2021) · Nature Communications · doi:10.1038/s41467-021-26280-1 · Cited by 212 · see citing works
Next generation plasma proteome profiling to monitor health and disease
Zhong, W., Edfors, F., Gummesson, A., Bergström, G. M. L., Fagerberg, L., & Uhlén, M. (2021) · Nature Communications · doi:10.1038/s41467-021-22767-z · Cited by 137 · see citing works
Epigenetic scores for the circulating proteome as tools for disease prediction
Gadd, D. A., Hillary, R. F., McCartney, D. L., Zaghlool, S. B., Stevenson, A. J., Cheng, Y., Fawns‐Ritchie, C., Nangle, C., Campbell, A., Flaig, R., et al. (2022) · eLife · doi:10.7554/elife.71802 · Cited by 114 · see citing works
Self-citationHop, P. J., Zwamborn, R. A. J., Hannon, E. J., Shireby, G. L., Nabais, M. F., Walker, E., van Rheenen, W., van Vugt, J. J. F. A., Dekker, A. M., Westeneng, H., et al. (2022) · Science Translational Medicine · doi:10.1126/scitranslmed.abj0264 · Cited by 102 · see citing works
Self-citationEye-brain connections revealed by multimodal retinal and brain imaging genetics
Zhao, B., Li, Y., Fan, Z., Wu, Z., Shu, J., Yang, X., Yang, Y., Wang, X., Li, B., Wang, X., et al. (2024) · Nature Communications · doi:10.1038/s41467-024-50309-w · Cited by 90 · see citing works
Hillary, R. F., Baños, D. T., Kousathanas, A., McCartney, D. L., Harris, S. E., Stevenson, A. J., Patxot, M., Ojavee, S. E., Zhang, Q., Liewald, D. C. M., et al. (2020) · Genome Medicine · doi:10.1186/s13073-020-00754-1 · Cited by 61 · see citing works
Self-citationMapping the serum proteome to neurological diseases using whole genome sequencing
Png, G., Barysenka, A., Repetto, L., Navarro, P., Shen, X., Pietzner, M., Wheeler, E., Wareham, N. J., Langenberg, C., Tsafantakis, E., et al. (2021) · Nature Communications · doi:10.1038/s41467-021-27387-1 · Cited by 55 · see citing works
Evaluating the causal effect of circulating proteome on the risk of osteoarthritis-related traits
Zhang, Y., Xie, J., Wen, S., Cao, P., Xiao, W., Zhu, J., Li, S., Wang, Z., Cen, H., Zhu, Z., et al. (2023) · Annals of the Rheumatic Diseases · doi:10.1136/ard-2023-224459 · Cited by 52 · see citing works
Gadd, D. A., Hillary, R. F., McCartney, D. L., Shi, L., Stolicyn, A., Robertson, N., Walker, R. M., McGeachan, R. I., Campbell, A., Shen, X., et al. (2022) · Nature Communications · doi:10.1038/s41467-022-32319-8 · Cited by 45 · see citing works
Self-citationWhole-genome sequence association analysis of blood proteins in a longitudinal wellness cohort
Zhong, W., Gummesson, A., Tebani, A., Karlsson, M., Hong, M., Schwenk, J. M., Edfors, F., Bergström, G. M. L., Fagerberg, L., & Uhlén, M. (2020) · Genome Medicine · doi:10.1186/s13073-020-00755-0 · Cited by 41 · see citing works
McDonagh, E. M., Trynka, G., McCarthy, M. I., Holzinger, E. R., Shameer, K., Nakić, N., Hu, X., Cornu, H., Dunham, I., & Hulcoop, D. G. (2024) · Annual Review of Biomedical Data Science · doi:10.1146/annurev-biodatasci-102523-103838 · Cited by 35 · see citing works
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Molendijk, J., & Parker, B. L. (2021) · Cell Systems · doi:10.1016/j.cels.2020.10.005 · Cited by 34 · see citing works
Palmos, A., Millischer, V., Menon, D. K., Nicholson, T. R., Taams, L. S., Michael, B. D., Sunderland, G. J., Griffiths, M. J., Hübel, C., & Breen, G. D. (2022) · PLoS Genetics · doi:10.1371/journal.pgen.1010042 · Cited by 33 · see citing works
Sphingomyelin Synthases in Neuropsychiatric Health and Disease
Mühle, C., Canalejas, R. D. B., & Kornhuber, J. (2019) · Neurosignals · doi:10.33594/000000200 · Cited by 29 · see citing works
Yang, C., Farias, F. G., Ibáñez, L., Sadler, B. E., Fernández, M. V., Wang, F., Bradley, J. L., Eiffert, B., Bahena, J. A., Budde, J., et al. (2020) · medRxiv · doi:10.1101/2020.06.25.20140277 · Cited by 29 · see citing works
Kierczak, M., Rafati, N., Höglund, J., Gourlé, H., Lo Faro, V., Schmitz, D., Ek, W. E., Gyllensten, U., Enroth, S., Ekman, D., et al. (2022) · Nature Communications · doi:10.1038/s41467-022-30208-8 · Cited by 22 · see citing works
Connecting the epigenome, metabolome and proteome for a deeper understanding of disease
Suhre, K., & Zaghlool, S. B. (2021) · Journal of Internal Medicine · doi:10.1111/joim.13306 · Cited by 22 · see citing works
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Janowski, M., Milewska, M., Zare, P., & Pękowska, A. (2021) · Pharmaceuticals · doi:10.3390/ph14080765 · Cited by 21 · see citing works
Llaurador-Coll, M., Ríos, S., García-Gavilán, J. F., Babió, N., Vilella, E., & Salas‐Salvadó, J. (2023) · GeroScience · doi:10.1007/s11357-023-00764-y · Cited by 18 · see citing works
Fan, C., Gao, Y., & Sun, Y. (2023) · Frontiers in Endocrinology · doi:10.3389/fendo.2023.1191768 · Cited by 17 · see citing works
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Repetto, L., Chen, J., Yang, Z., Zhai, R., Timmers, P. R. H. J., Feng, X., Li, T., Yao, Y., Maslov, D. E., Timoshchuk, A. N., et al. (2024) · Nature Human Behaviour · doi:10.1038/s41562-024-01963-z · Cited by 15 · see citing works
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Gadd, D. A., Hillary, R. F., McCartney, D. L., Zaghlool, S. B., Stevenson, A. J., Nangle, C., Campbell, A., Flaig, R., Harris, S. E., Walker, R. M., et al. (2020) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2020.12.01.404681 · Cited by 15 · see citing works
Self-citationSmith, H. M., Moodie, J. E., Monterrubio‐Gómez, K., Gadd, D. A., Hillary, R. F., Chybowska, A. D., McCartney, D. L., Campbell, A., Redmond, P. H., Page, D., et al. (2024) · Clinical Epigenetics · doi:10.1186/s13148-024-01661-7 · Cited by 13 · see citing works
Self-citationChen, H., Siping, G., Li, R., Yang, L., Wang, R., Jiang, Y., & Hao, Y. (2024) · Journal of Neuropathology & Experimental Neurology · doi:10.1093/jnen/nlad102 · Cited by 12 · see citing works
Gadd, D. A., Smith, H. M., Mullin, D. S., Chybowska, O., Hillary, R. F., Kimenai, D. M., Bernabeu, E., Cheng, Y., Fawns‐Ritchie, C., Campbell, A., et al. (2024) · Clinical Epigenetics · doi:10.1186/s13148-024-01734-7 · Cited by 11 · see citing works
Self-citationHillary, R. F., Gadd, D. A., McCartney, D. L., Shi, L., Campbell, A., Walker, R. M., Ritchie, C. W., Deary, I. J., Evans, K. L., Nevado‐Holgado, A. J., et al. (2022) · Alzheimer s & Dementia Diagnosis Assessment & Disease Monitoring · doi:10.1002/dad2.12280 · Cited by 10 · see citing works
Self-citationYang, H., Chen, L., & Liu, Y. (2022) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgac575 · Cited by 10 · see citing works
Yang, H., Chen, L., & Liu, Y. (2023) · Frontiers in Immunology · doi:10.3389/fimmu.2023.1052616 · Cited by 10 · see citing works
Niu, P., Zhang, R., Zhang, C., Li, S., & Li, Y. (2024) · CNS Neuroscience & Therapeutics · doi:10.1111/cns.14817 · Cited by 10 · see citing works
Wen, S., Xu, S., Zong, X., Wen, S., Xiao, W., Zheng, W., Cen, H., Zhu, Z., Xie, J., Zhang, Y., et al. (2025) · Journal of Cachexia Sarcopenia and Muscle · doi:10.1002/jcsm.13720 · Cited by 8 · see citing works
TargetGene: a comprehensive database of cell-type-specific target genes for genetic variants
Lin, S., Wu, S., Zhao, W., Fang, Z., Kang, H., Liu, X., Pan, S., Yu, F., Bào, Y., & Jia, P. (2023) · Nucleic Acids Research · doi:10.1093/nar/gkad901 · Cited by 8 · see citing works
Kim, C. K., Hong, K., Park, D., Chun, S., Oh, S., Park, Y., Kim, K., Choi, S., & Jo, H. (2022) · Physiological Reports · doi:10.14814/phy2.15459 · Cited by 7 · see citing works
Genetically Determined Inflammation‐Related Proteins in Asthma and Type‐2 Signatures
Hernandez‐Pacheco, N., Björkander, S., Merid, S. K., Kere, M. M., Kumar, A., Klevebro, S., Mogensen, I., Ekström, S., Janson, C., Palmberg, L., et al. (2025) · Allergy · doi:10.1111/all.16608 · Cited by 6 · see citing works
Park, S., Kim, D., Lee, H., Hong, C. H., Son, S. J., Roh, H. W., Kim, D., Nam, Y., Lee, D. A., Shin, H., et al. (2024) · Computers in Biology and Medicine · doi:10.1016/j.compbiomed.2024.109303 · Cited by 6 · see citing works
DNA methylation-predicted plasma protein levels and breast cancer risk
Kresovich, J. K., Reid, B. M., O’Brien, K. M., Xu, Z., Byrd, D. A., Weinberg, C. R., Sandler, D. P., & Taylor, J. A. (2025) · Breast Cancer Research · doi:10.1186/s13058-025-02004-x · Cited by 5 · see citing works
Wang, X., Yang, H., Zhan, D., Sun, H., Huang, Q., Zhang, Y., Lin, Y., Wei, G., Hua, F., Liu, L., et al. (2024) · Heliyon · doi:10.1016/j.heliyon.2024.e39013 · Cited by 4 · see citing works
Xing, X., Xu, S., Wang, Y., Shen, Z., Wen, S., Zhang, Y., Ruan, G., & Cai, G. (2024) · Diabetes · doi:10.2337/db24-0262 · Cited by 4 · see citing works
Identification of Circulating Proteins Associated With Blood Pressure
Xu, S., Wen, S., Zong, X., Wen, S., Zhu, J., Zheng, W., Wang, Z., Cao, P., Liang, Z., Ding, C., et al. (2024) · Hypertension · doi:10.1161/hypertensionaha.124.24151 · Cited by 4 · see citing works
Dai, L., Ye, Y., Mugaanyi, J., Hu, Z., Huang, J. L., & Lu, C. (2024) · Aging · doi:10.18632/aging.205867 · Cited by 4 · see citing works
Huang, H., Cheng, S., Li, C., Cheng, B., Liu, L., Yang, X., Meng, P., Yao, Y., Pan, C., Zhang, J., et al. (2022) · Acta Neuropsychiatrica · doi:10.1017/neu.2022.10 · Cited by 4 · see citing works
Karim, M. A., Ariano, B., Schwartzentruber, J., Roldán‐Romero, J. M., Mountjoy, E., Hayhurst, J. D., Buniello, A., Mohammed, E. S. E., Carmona, M., Holmes, M. V., et al. (2023) · medRxiv · doi:10.1101/2023.06.01.23290252 · Cited by 4 · see citing works
Evaluating the Causal Effects of Circulating Proteome on the Risk of Sepsis and Related Outcomes
Ma, J., Fu, L., Lu, Z., & Sun, Y. T. (2024) · ACS Omega · doi:10.1021/acsomega.4c01934 · Cited by 3 · see citing works
Gadd, D. A., McGeachan, R. I., Hillary, R. F., McCartney, D. L., Harris, S. E., Sherwood, R. A., Abbott, N. J., Cox, S. R., & Marioni, R. E. (2021) · Wellcome Open Research · doi:10.12688/wellcomeopenres.17322.1 · Cited by 3 · see citing works
Self-citationLi, B., Hu, P., Liang, H., Zhao, X., Zhang, A., Xu, Y., Zhang, B., & Zhang, J. (2024) · Frontiers in Immunology · doi:10.3389/fimmu.2024.1434369 · Cited by 2 · see citing works
The Causal Relationships and Therapeutic Targets of Plasma Proteins in Ankylosing Spondylitis
Wen, P., Yang, M., Wang, Y., Niu, Y., Yang, P., Hu, S., Liu, L., & Yang, Z. G. (2025) · Biomedicines · doi:10.3390/biomedicines13020306 · Cited by 2 · see citing works
Development and Application of Organoids for Toxicology Studies
Han, P., Chen, M. L., Zhang, Q., & Xie, L. (2026) · Journal of Applied Toxicology · doi:10.1002/jat.70221 · Cited by 2 · see citing works
Self-citationNauwelaerts, S. J. D., Cremer, K. D., Sierra, N. B., Gand, M., Geel, D. V., Delvoye, M., Vandermassen, E., Vercauteren, J., Stroobants, C., Bernard, A., et al. (2022) · International Journal of Environmental Research and Public Health · doi:10.3390/ijerph19148531 · Cited by 2 · see citing works
Sarnowski, C., Ma, J., Nguyen, N. Q., Hoogeveen, R. C., Ballantyne, C. M., Coresh, J., Morrison, A. C., Chatterjee, N., Boerwinkle, E., & Yu, B. (2024) · medRxiv · doi:10.1101/2024.09.27.24314500 · Cited by 2 · see citing works
Huang, B., Tian, Y., & Li, . (2025) · Hepatobiliary & pancreatic diseases international · doi:10.1016/j.hbpd.2025.11.005 · Cited by 1 · see citing works
Blood DNA methylation-predicted plasma protein levels and colorectal cancer survival
Richards, A. C., Gómez, M. F. L., Dowling, B. I., Jean‐Baptiste, E., Gigic, B., Figueiredo, J. C., Li, C. I., Shibata, D., Toriola, A. T., Byrd, D. A., et al. (2026) · Clinical Epigenetics · doi:10.1186/s13148-026-02059-3 · Cited by 1 · see citing works
Integrative analysis of DNA methylation and inflammatory protein biomarkers in hypertension
Zhu, M., ZHANG, J., Ma, J., Tang, X., Wang, Y., & Zhu, D. (2026) · Frontiers in Immunology · doi:10.3389/fimmu.2026.1671540 · Cited by 1 · see citing works
Draxin Induces Cognitive Impairment in Mice via Wnt/β-Catenin-Mediated Tau Phosphorylation
Chen, Q., Fu, Y., Hu, L., Chen, X., & Liu, Z. (2026) · Journal of Integrative Neuroscience · doi:10.31083/jin47749 · Cited by 1 · see citing works
Elilarassi, R., Sivanandakumar, D., Palaniappan, N., Ilanchezhiyan, P., Venkatachalapathy, V., & Velmurugan, K. (2026) · RSC Advances · doi:10.1039/d6ra02308h · Cited by 1 · see citing works
Integrative Bayesian tensor regression for imaging genetics applications
Liu, Y., Chakraborty, N., Qin, Z. S., Kundu, S., & Initiative, T. A. D. N. (2023) · Frontiers in Neuroscience · doi:10.3389/fnins.2023.1212218 · Cited by 1 · see citing works
Supervised Multimodal Fission Learning
Mao, L., Wang, Q., Su, Y., Lure, F. Y. M., Chong, C. D., Schwedt, T. J., & Li, J. (2026) · INFORMS Journal on Data Science · doi:10.1287/ijds.2024.0059 · Cited by 1 · see citing works
Gauthier, L., Stynen, B., Serohijos, A. W. R., & Michnick, S. W. (2019) · BioEssays · doi:10.1002/bies.201900169
de Boer, P. (2023) · Radboud University Press eBooks · doi:10.54195/phhp7653
Zhong, W., Gummesson, A., Tebani, A., Karlsson, M., Hong, M., Schwenk, J. M., Edfors, F., Bergström, G. M. L., Fagerberg, L., & Uhlén, M. (2020) · Figshare · doi:10.6084/m9.figshare.12586484
Unveiling Promising Drug Targets for NAFLD through Mendelian RandomizationPreprint
Lei, G., & Dai, C. (2024) · Research Square · doi:10.21203/rs.3.rs-4647999/v1
Lv, S., Niu, L., Fu, X., Yao, G.-M., Wen, Q., Fan, W.-Y., & Yang, B. (2025) · Research Square · doi:10.21203/rs.3.rs-5886780/v1
Sun, X., Yang, S., Peng, Q., Zhang, X., Qian, Y., Sun, R., Zhang, G., Wang, S., Li, J., & Zhang, M. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2025.03.16.643065
Wang, Y., Yao, T., Lin, Y., & Wu, J. (2025) · Clinical Cosmetic and Investigational Dermatology · doi:10.2147/ccid.s523231
Hao, R., Su, N., Yin, F., Li, C., Li, Y., Cheng, H., & Ding, Z. (2025) · Progress in Neuro-Psychopharmacology and Biological Psychiatry · doi:10.1016/j.pnpbp.2025.111477
Wu, T., Luo, J., Qiu, H., Shao, W., Lu, Y., Luo, M., Lin, Z., Zhang, Y., Zhang, L., Wang, H., et al. (2025) · Advanced Science · doi:10.1002/advs.202514130
Gadd, D. A., Smith, H. M., Mullin, D. S., Chybowska, O., Hillary, R. F., Kimenai, D. M., Bernabeu, E., Cheng, Y., Fawns‐Ritchie, C., Campbell, A., et al. (2024) · Figshare · doi:10.6084/m9.figshare.26981934
Self-citationSmith, H. M., Moodie, J. E., Monterrubio‐Gómez, K., Gadd, D. A., Hillary, R. F., Chybowska, A. D., McCartney, D. L., Campbell, A., Redmond, P., Page, D., et al. (2024) · Figshare · doi:10.6084/m9.figshare.25479097
Self-citationSmith, H. M., Moodie, J. E., Monterrubio‐Gómez, K., Gadd, D. A., Hillary, R. F., Chybowska, A. D., McCartney, D. L., Campbell, A., Redmond, P., Page, D., et al. (2024) · Figshare · doi:10.6084/m9.figshare.26697482
Self-citationZhong, W., Gummesson, A., Tebani, A., Karlsson, M., Hong, M., Schwenk, J. M., Edfors, F., Bergström, G., Fagerberg, L., & Uhlén, M. (2020) · Figshare · doi:10.6084/m9.figshare.12586481
Smith, H. M., Moodie, J. E., Monterrubio‐Gómez, K., Gadd, D. A., Hillary, R. F., Chybowska, A. D., McCartney, D. L., Campbell, A., Redmond, P., Page, D., et al. (2024) · Figshare · doi:10.6084/m9.figshare.25478785
Self-citationGadd, D. A., Smith, H. M., Mullin, D. S., Chybowska, O., Hillary, R. F., Kimenai, D. M., Bernabeu, E., Cheng, Y., Fawns‐Ritchie, C., Campbell, A., et al. (2024) · Discovery Research Portal (University of Dundee) · doi:10.6084/m9.figshare.26981931
Self-citationGadd, D. A., Smith, H. M., Mullin, D. S., Chybowska, O., Hillary, R. F., Kimenai, D. M., Bernabeu, E., Cheng, Y., Fawns‐Ritchie, C., Campbell, A., et al. (2024) · Figshare · doi:10.6084/m9.figshare.26981928
Self-citationXi, J., Wang, S., Chen, J., Law, J. C. S., Wang, J., Lee, G. H., Fan, Z., Lv, G., & Chen, Y. (2026) · PLoS ONE · doi:10.1371/journal.pone.0340166
Epigenome-wide association study of blood proteome in the Atherosclerosis Risk in Communities study
Li, Y., Surapaneni, A., Rodriguez-Hernandez, Z., Schlosser, P., Rhee, E. P., Boerwinkle, E., Yu, B., Grove, M. L., Ruggles, K. V., Coresh, J., et al. (2026) · Human Genetics and Genomics Advances · doi:10.1016/j.xhgg.2026.100585
Lv, K., Fang, J., Wang, S., Xing, X., & Zhu, R. (2026) · Endocrine Connections · doi:10.1530/ec-25-0180
- Authors
- Hillary, R. F., McCartney, D. L., Harris, S. E., Stevenson, A. J., Seeboth, A., Zhang, Q., Liewald, D. C., Evans, K. L., Ritchie, C. W., Tucker-Drob, E. M., Wray, N. R., McRae, A. F., Visscher, P. M., Deary, I. J., & Marioni, R. E.
- Affiliations
- Institute of Genetics and Cancer (GB)
- University of Edinburgh (GB)
- The University of Queensland (AU)
- Corresponding author
- Marioni, Riccardo E.
- ORCID
- Venue
- Nature Communications
- Published
- 2019-07-18
- Volume
- 10
- Issue
- 1
- Pages
- 3160-3160
- ISSN
- 2041-1723 (ISSN-L)
- PMC
- PMC6639385
- OpenAlex
- W2960298137
- Cited by
- 78
- References
- 49
- Citations by year
- 2026: 8 · 2025: 10 · 2024: 21 · 2023: 11 · 2022: 10 · 2021: 9 · 2020: 7 · 2019: 2
- FWCI
- 4.33
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Locations
- Nature Communications (publishedVersion, cc-by)
- Europe PMC (PubMed Central) (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- RePEc: Research Papers in Economics (submittedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- Edinburgh Research Explorer (University of Edinburgh) (submittedVersion, cc-by)
- Funders
- Alzheimer's Research UK (ARUK-PG2017B-10)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Mapping and Diversity in Plants and Animals
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Bioinformatics and Genomic Networks
- Keywords
- plasma protein biomarkers, epigenome-wide association study, genome-wide association study, DNA methylation, Lothian Birth Cohort 1936, older adults, Mendelian randomization, Draxin, MDGA1, kynureninase, matrilin-3, neps, extracellular matrix metabolism, immune pathways, gene expression, causal relationship
- MeSH terms
- Aged, Blood Proteins, Female, Humans, Male, Nervous System Diseases, Scotland, Biomarkers, Genome, Human, CpG Islands, DNA Methylation, Quantitative Trait Loci, Epigenesis, Genetic, Genome-Wide Association Study
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