Phenome-wide Mendelian randomization mapping the influence of the plasma proteome on complex diseases.
Open accessPreprint — published as 10.1038/s41588-020-0682-6 · Paper page
Abstract
The human proteome is a major source of therapeutic targets. Recent genetic association analyses of the plasma proteome enable systematic evaluation of the causal consequences of variation in plasma protein levels. Here, we estimated the effects of 1002 proteins on 225 phenotypes using two-sample Mendelian randomization (MR) and colocalization. Of 413 associations supported by evidence from MR, 130 (31.5%) were not supported by results of colocalization analyses, suggesting that genetic confounding due to linkage disequilibrium (LD) is widespread in naive phenome-wide association studies of proteins. Combining MR and colocalization evidence in cis-only analyses, we identified 111 putatively causal effects between 65 proteins and 52 disease-related phenotypes ( www.epigraphdb.org/pqtl/ ). Evaluation of data from historic drug development programmes showed that target-indication pairs with MR and colocalization support were more likely to be approved, evidencing the value of our approach in identifying and prioritising potential therapeutic targets.
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
Integrating human genomics and proteomics can help elucidate disease mechanisms, identify clinical biomarkers and discover drug targets.
“Integrating human genomics and proteomics can help elucidate disease mechanisms, identify clinical biomarkers and discover drug targets1–4.”
From Rare variant associations with plasma protein levels in the UK Biobank (2023) · cites this paper as [2]
The Discussion (page unavailable) says that combining genetic instruments for plasma proteins with disease-phenotype data can reveal potentially causal associations and help prioritize drug targets. That supports the disease-mechanism and drug-target parts of the claim. The paper does not report identifying clinical biomarkers; the only retrieved use of “biomarkers” is in a reference title. (LLM, conf=0.87)
Experimental — accuracy not yet measuredZheng et al. used MR and colocalisation analysis to examine associations of 1002 plasma proteins with 153 diseases and 72 disease-related risk factors, and identified 413 protein-trait associations supported by MR, 130 (31.5%) of which were not supported by the colocalisation analysis.
“Zheng et al.16 used MR and colocalisation analysis to examine associations of 1002 plasma proteins with 153 diseases and 72 disease-related risk factors, and identified 413 protein–trait associations supported by MR, 130 (31.5%) of which were not supported by the colocalisation analysis.”
From Genetic determinants of plasma protein levels in the Estonian population (2024) · cites this paper as Zheng et al. [16]
The study performed a PWAS using FUSION. After FDR correction and pleiotropy filtering, 125 pQTL for 108 proteins were significantly associated with AD.
“We performed a PWAS using FUSION45. After FDR correction and pleiotropy filtering50,51, 125 pQTL for 108 proteins were significantly associated with AD.”
From Proteogenomic analysis of human cerebrospinal fluid identifies neurologically relevant regulation and implicates causal proteins for Alzheimer’s disease (2024) · cites this paper as [51]
MR is being widely applied to quantitative traits with the aim of discovering modifiable risk factors for disease that are causal and amenable to therapeutic modification.
“With increasing availability of large-scale phenotyping (and genotyping), MR is being widely applied to quantitative traits (e.g. markers or adiposity, such as body mass index 13-16 ; blood lipids such as HDL-cholesterol 17-19 ; inflammation-related proteins such as interleukin-6 receptor 20,21 12 ) with the aim of discovering modifiable risk factors for disease that are causal and amenable to the”
From Integrating genomics with biomarkers and therapeutic targets to invigorate cardiovascular drug development (2021) · cites this paper as [15]
The estimate from multivariable Mendelian randomization including the mediator as an additional exposure represents the direct (unmediated) effect of the exposure on the outcome.
“The latter estimate represents the direct (that is, unmediated) effect of the exposure on the outcome.”
From Guidelines for performing Mendelian randomization investigations (2020) · cites this paper as [84]
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Cites
Tissue-based map of the human proteome
Uhlén, M., Fagerberg, L., Hallström, B. M., Lindskog, C., Oksvold, P., Mardinoglu, A., Sivertsson, Å., Kampf, C., Sjöstedt, E., Asplund, A., et al. (2015) · Science · doi:10.1126/science.1260419 · Cited by 15,286 · see citing works
STRING v10: protein–protein interaction networks, integrated over the tree of life
Szklarczyk, D., Franceschini, A., Wyder, S., Forslund, K., Heller, D., Huerta-Cepas, J., Simonovic, M., Roth, A., Santos, A., Tsafou, K. P., et al. (2015) · Nucleic Acids Research · doi:10.1093/nar/gku1003 · Cited by 10,436 · see citing works
Bowden, J., Davey Smith, G., & Burgess, S. (2015) · International Journal of Epidemiology · doi:10.1093/ije/dyv080 · Cited by 9,816 · see citing works
Self-citationThe Ensembl Variant Effect Predictor
McLaren, W., Gil, L., Hunt, S. E., Riat, H. S., Ritchie, G. R. S., Thormann, A., Flicek, P., & Cunningham, F. (2016) · Genome Biology · doi:10.1186/s13059-016-0974-4 · Cited by 8,099 · 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
Self-citationSzklarczyk, D., Morris, J. H., Cook, H., Kuhn, M., Wyder, S., Simonovic, M., Santos, A., Doncheva, N. T., Roth, A., Bork, P., et al. (2017) · Nucleic Acids Research · doi:10.1093/nar/gkw937 · Cited by 6,980 · see citing works
Davey Smith, G., & Ebrahim, S. (2003) · International Journal of Epidemiology · doi:10.1093/ije/dyg070 · Cited by 5,882 · see citing works
Tests for comparing elements of a correlation matrix
Steiger, J. H. (1980) · Psychological Bulletin · doi:10.1037/0033-2909.87.2.245 · Cited by 4,621 · see citing works
Mendelian randomization: Using genes as instruments for making causal inferences in epidemiology
Lawlor, D. A., Harbord, R. M., Sterne, J. A. C., Timpson, N., & Davey Smith, G. (2008) · Statistics in Medicine · doi:10.1002/sim.3034 · Cited by 4,618 · see citing works
Self-citationGiambartolomei, 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
An atlas of genetic correlations across human diseases and traits
ReproGen Consortium, Bulik-Sullivan, B., Psychiatric Genomics Consortium, Genetic Consortium for Anorexia Nervosa of the Wellcome Trust Case Control Consortium 3, Finucane, H. K., Anttila, V., Gusev, A., Day, F. R., Loh, P.-R., Duncan, L., et al. (2015) · Nature Genetics · doi:10.1038/ng.3406 · Cited by 4,255 · see citing works
Genetic effects on gene expression across human tissues
GTEx Consortium (2017) · Nature · doi:10.1038/nature24277 · Cited by 4,036 · see citing works
Integration of summary data from GWAS and eQTL studies predicts complex trait gene targets
Zhu, Z., Zhang, F., Hu, H., Bakshi, A., Robinson, M. R., Powell, J. E., Montgomery, G. W., Goddard, M. E., Wray, N. R., Visscher, P. M., et al. (2016) · Nature Genetics · doi:10.1038/ng.3538 · Cited by 3,352 · see citing works
Boyd, A., Golding, J., Macleod, J., Lawlor, D. A., Fraser, A., Henderson, J., Molloy, L., Ness, A., Ring, S., & Davey Smith, G. (2013) · International Journal of Epidemiology · doi:10.1093/ije/dys064 · Cited by 2,996 · see citing works
Self-citationThe Reactome Pathway Knowledgebase
Fabregat, A., Jupe, S., Matthews, L. R., Sidiropoulos, K., Gillespie, M. E., Garapati, P. V., Haw, R., Jassal, B., Korninger, F., May, B., et al. (2017) · Nucleic Acids Research · doi:10.1093/nar/gkx1132 · Cited by 2,798 · see citing works
Orienting the causal relationship between imprecisely measured traits using GWAS summary data.
Hemani, G., Tilling, K., & Davey Smith, G. (2017) · PLoS Genetics · doi:10.1371/journal.pgen.1007081 · Cited by 2,607 · see citing works
Self-citationClinical development success rates for investigational drugs
Hay, M., Thomas, D. W., Craighead, J. L., Economides, C., & Rosenthal, J. (2014) · Nature Biotechnology · doi:10.1038/nbt.2786 · Cited by 2,536 · see citing works
Cohort Profile: The Avon Longitudinal Study of Parents and Children: ALSPAC mothers cohort
Fraser, A., Macdonald-Wallis, C., Tilling, K., Boyd, A., Golding, J., Davey Smith, G., Henderson, J., Macleod, J., Molloy, L., Ness, A., et al. (2013) · International Journal of Epidemiology · doi:10.1093/ije/dys066 · Cited by 2,494 · see citing works
Self-citationIntegrative approaches for large-scale transcriptome-wide association studies
Gusev, A., Ko, A., Shi, H., Bhatia, G., Chung, W., Penninx, B. W. J. H., Jansen, R., de Geus, E. J. C., Boomsma, D. I., Wright, F. A., et al. (2016) · Nature Genetics · doi:10.1038/ng.3506 · Cited by 2,479 · see citing works
A comprehensive map of molecular drug targets
Santos, R., Ursu, O., Gaulton, A., Bento, A. P., Donadi, R. S., Bologa, C. G., Karlsson, A., Al-Lazikani, B., Hersey, A., Oprea, T. I., et al. (2017) · Nature Reviews Drug Discovery · doi:10.1038/nrd.2016.230 · Cited by 2,427 · see citing works
Self-citationMendelian Randomization as an Approach to Assess Causality Using Observational Data
Sekula, P., Del Greco M, F., Pattaro, C., & Köttgen, A. (2016) · Journal of the American Society of Nephrology · doi:10.1681/asn.2016010098 · Cited by 2,351 · 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
Self-citationYavorska, O. O., & Burgess, S. (2017) · International Journal of Epidemiology · doi:10.1093/ije/dyx034 · Cited by 2,013 · see citing works
Self-citationA framework for the investigation of pleiotropy in two‐sample summary data Mendelian randomization
Bowden, J., Del Greco M, F., Minelli, C., Davey Smith, G., Sheehan, N., & Thompson, J. (2017) · Statistics in Medicine · doi:10.1002/sim.7221 · Cited by 1,887 · see citing works
Self-citationAssarsson, E., Lundberg, M., Holmquist, G., Björkesten, J., Bucht Thorsen, S., Ekman, D., Eriksson, A., Rennel Dickens, E., Ohlsson, S., Edfeldt, G., et al. (2014) · PLoS ONE · doi:10.1371/journal.pone.0095192 · Cited by 1,874 · see citing works
Alzheimer’s disease drug-development pipeline: Few candidates, frequent failures
Cummings, J. L., Morstorf, T., & Zhong, K. (2014) · Alzheimer's Research & Therapy · doi:10.1186/alzrt269 · Cited by 1,744 · 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
Nyholt, D. R. (2004) · The American Journal of Human Genetics · doi:10.1086/383251 · Cited by 1,699 · see citing works
The support of human genetic evidence for approved drug indications
Nelson, M. R., Tipney, H., Painter, J. L., Shen, J., Nicoletti, P., Shen, Y., Floratos, A., Sham, P. C., Li, M. J., Wang, J., et al. (2015) · Nature Genetics · doi:10.1038/ng.3314 · Cited by 1,666 · see citing works
Self-citationBowden, J., Fabiola Del Greco, M., Minelli, C., Smith, G. D., Sheehan, N. A., & Thompson, J. R. (2016) · International Journal of Epidemiology · doi:10.1093/ije/dyw220 · Cited by 1,572 · see citing works
Self-citationEvaluating the potential role of pleiotropy in Mendelian randomization studies
Hemani, G., Bowden, J., & Davey Smith, G. (2018) · Human Molecular Genetics · doi:10.1093/hmg/ddy163 · Cited by 1,496 · see citing works
Self-citationInduced protein degradation: an emerging drug discovery paradigm
Lai, A. C., & Crews, C. M. (2017) · Nature Reviews Drug Discovery · doi:10.1038/nrd.2016.211 · Cited by 1,486 · see citing works
de Lange, K. M., Moutsianas, L., Lee, J. C., Lamb, C. A., Luo, Y., Kennedy, N. A., Jostins, L., Rice, D. L., Gutierrez-Achury, J., Ji, S.-G., et al. (2017) · Nature Genetics · doi:10.1038/ng.3760 · Cited by 1,445 · see citing works
Obesity-associated variants within FTO form long-range functional connections with IRX3
Smemo, S., Tena, J. J., Kim, K.-H., Gamazon, E. R., Sakabe, N. J., Gómez-Marín, C., Aneas, I., Credidio, F. L., Sobreira, D. R., Wasserman, N. F., et al. (2014) · Nature · doi:10.1038/nature13138 · Cited by 1,219 · see citing works
Burgess, S., Dudbridge, F., & Thompson, S. G. (2016) · Statistics in Medicine · doi:10.1002/sim.6835 · Cited by 1,153 · see citing works
Self-citation(2012) · The Lancet · doi:10.1016/s0140-6736(12)60110-x · Cited by 1,146 · 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
Self-citationThe druggable genome and support for target identification and validation in drug development
Finan, C., Gaulton, A., Krüger, F. A., Lumbers, R. T., Shah, T., Engmann, J., Galver, L., Kelley, R., Karlsson, A., Santos, R., et al. (2017) · Science Translational Medicine · doi:10.1126/scitranslmed.aag1166 · Cited by 1,011 · see citing works
Self-citationOpportunities and challenges for transcriptome-wide association studies
Wainberg, M., Sinnott-Armstrong, N., Mancuso, N., Barbeira, A., Knowles, D. A., Golan, D., Ermel, R., Ruusalepp, A., Quertermous, T., Hao, K., et al. (2019) · Nature Genetics · doi:10.1038/s41588-019-0385-z · Cited by 929 · see citing works
Zheng, J., Erzurumluoglu, A. M., Elsworth, B. L., Kemp, J. P., Howe, L., Haycock, P. C., Hemani, G., Tansey, K., Laurin, C., Early Genetics and Lifecourse Epidemiology (EAGLE) Eczema Consortium, et al. (2017) · Bioinformatics · doi:10.1093/bioinformatics/btw613 · Cited by 869 · see citing works
Self-citationReactome pathway analysis: a high-performance in-memory approach
Fabregat, A., Sidiropoulos, K., Viteri, G., Forner, O., Marín-García, P., Arnau, V., D’Eustachio, P., Stein, L. D., & Hermjakob, H. (2017) · BMC Bioinformatics · doi:10.1186/s12859-017-1559-2 · Cited by 859 · see citing works
Zhao, Q., Wang, J., Hemani, G., Bowden, J., & Small, D. S. (2020) · The Annals of Statistics · doi:10.1214/19-aos1866 · Cited by 854 · see citing works
Self-citationDrugs, their targets and the nature and number of drug targets
Imming, P., Sinning, C., & Meyer, A. (2006) · Nature Reviews Drug Discovery · doi:10.1038/nrd2132 · Cited by 833 · 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
Validating therapeutic targets through human genetics
Plenge, R. M., Scolnick, E. M., & Altshuler, D. (2013) · Nature Reviews Drug Discovery · doi:10.1038/nrd4051 · Cited by 712 · see citing works
Phase II and Phase III attrition rates 2011–2012
Arrowsmith, J., & Miller, P. (2013) · Nature Reviews Drug Discovery · doi:10.1038/nrd4090 · Cited by 697 · see citing works
Co-regulatory networks of human serum proteins link genetics to disease
Emilsson, V., Ilkov, M., Lamb, J. R., Finkel, N., Gudmundsson, E. F., Pitts, R., Hoover, H., Gudmundsdottir, V., Horman, S. R., Aspelund, T., et al. (2018) · Science · doi:10.1126/science.aaq1327 · Cited by 680 · see citing works
Mendelian randomization in cardiometabolic disease: challenges in evaluating causality
Holmes, M. V., Ala-Korpela, M., & Smith, G. D. (2017) · Nature Reviews Cardiology · doi:10.1038/nrcardio.2017.78 · Cited by 679 · see citing works
Self-citationPhase II and phase III failures: 2013–2015
Harrison, R. K. (2016) · Nature Reviews Drug Discovery · doi:10.1038/nrd.2016.184 · Cited by 636 · see citing works
Haycock, P., Burgess, S., Wade, K. H., Bowden, J., Relton, C. L., & Smith, G. D. (2016) · American Journal of Clinical Nutrition · doi:10.3945/ajcn.115.118216 · Cited by 602 · see citing works
Self-citationRidker, P. M., Libby, P., MacFadyen, J. G., Thuren, T. Y., Ballantyne, C. M., Fonseca, F. A. H., Köenig, W., Shimokawa, H., Everett, B. M., & Glynn, R. J. (2018) · European Heart Journal · doi:10.1093/eurheartj/ehy310 · Cited by 556 · see citing works
Rohloff, J. C., Gelinas, A. D., Jarvis, T. C., Ochsner, U. A., Schneider, D. J., Gold, L., & Janjic, N. (2014) · Molecular Therapy - Nucleic Acids · doi:10.1038/mtna.2014.49 · Cited by 533 · see citing works
Mendelian Randomization: New Applications in the Coming Age of Hypothesis-Free Causality
Evans, D. M., & Smith, G. D. (2015) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-090314-050016 · Cited by 524 · see citing works
Self-citationAssociation Between Telomere Length and Risk of Cancer and Non-Neoplastic Diseases
Haycock, P., Burgess, S., Nounu, A., Zheng, J., Okoli, G. N., Bowden, J., Wade, K. H., Timpson, N. J., Evans, D. M., Willeit, P., et al. (2017) · JAMA Oncology · doi:10.1001/jamaoncol.2016.5945 · Cited by 510 · see citing works
Self-citationCornerstones of CRISPR–Cas in drug discovery and therapy
Fellmann, C., Gowen, B. G., Lin, P., Doudna, J. A., & Corn, J. E. (2016) · Nature Reviews Drug Discovery · doi:10.1038/nrd.2016.238 · Cited by 442 · see citing works
Yao, 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
Self-citationFerence, B. A., Majeed, F., Penumetcha, R., Flack, J. M., & Brook, R. D. (2015) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2015.02.020 · Cited by 407 · see citing works
Use of genome-wide association studies for drug repositioning
Sanséau, P., Agarwal, P., Barnes, M. R., Pastinen, T., Richards, J. B., Cardon, L. R., & Mooser, V. (2012) · Nature Biotechnology · doi:10.1038/nbt.2151 · Cited by 387 · see citing works
Selecting instruments for Mendelian randomization in the wake of genome-wide association studies.
Swerdlow, D. I., Kuchenbaecker, K. B., Shah, S., Sofat, R., Holmes, M. V., White, J., Mindell, J. S., Kivimaki, M., Brunner, E. J., Whittaker, J. C., et al. (2016) · International Journal of Epidemiology · doi:10.1093/ije/dyw088 · Cited by 387 · see citing works
Self-citationMapping of 79 loci for 83 plasma protein biomarkers in cardiovascular disease
Folkersen, L., Fauman, E., Sabater-Lleal, M., Strawbridge, R. J., Frånberg, M., Sennblad, B., Baldassarre, D., Veglia, F., Humphries, S. E., Rauramaa, R., et al. (2017) · PLOS Genetics · doi:10.1371/journal.pgen.1006706 · Cited by 343 · see citing works
Integrating predicted transcriptome from multiple tissues improves association detection
Barbeira, A., Pividori, M., Zheng, J., Wheeler, H. E., Nicolae, D. L., & Im, H. K. (2019) · PLoS Genetics · doi:10.1371/journal.pgen.1007889 · Cited by 334 · see citing works
Self-citationFerreira, R. C., Freitag, D. F., Cutler, A. J., Howson, J. M. M., Rainbow, D. B., Smyth, D. J., Kaptoge, S., Clarke, P., Boreham, C., Coulson, R. M., et al. (2013) · PLoS Genetics · doi:10.1371/journal.pgen.1003444 · Cited by 316 · see citing works
Self-citationTimpson, N. J., Nordestgaard, B. G., Harbord, R. M., Zacho, J., Frayling, T. M., Tybjærg-Hansen, A., & Davey Smith, G. (2011) · International Journal of Obesity · doi:10.1038/ijo.2010.137 · Cited by 310 · see citing works
Self-citationErratum: Unexplored therapeutic opportunities in the human genome
Oprea, T. I., Bologa, C., Brunak, S., Campbell, A., Gan, G. N., Gaulton, A., Gomez, S. M., Guha, R., Hersey, A., Holmes, J., et al. (2018) · Nature Reviews Drug Discovery · doi:10.1038/nrd.2018.52 · Cited by 304 · see citing works
Endothelial cell protein C receptor plays an important role in protein C activation in vivo
Taylor, F. B., Peer, G. T., Lockhart, M. S., Ferrell, G. L., & Esmon, C. T. (2001) · Blood · doi:10.1182/blood.v97.6.1685 · Cited by 265 · see citing works
Angelantonio, E. D., Thompson, S. G., Kaptoge, S. K., Moore, C. S., Walker, M. R., Armitage, J., Ouwehand, W. H., Roberts, D. J., Danesh, J., Angelantonio, E. D., et al. (2017) · The Lancet · doi:10.1016/s0140-6736(17)31928-1 · Cited by 265 · see citing works
Self-citationZhao, Q., Wang, J., Hemani, G., et al. (2018) · Bristol Research (University of Bristol) · doi:10.48550/arxiv.1801.09652 · Cited by 258 · see citing works
Self-citationWalker, V. M., Smith, G. D., Davies, N. M., & Martin, R. M. (2017) · International Journal of Epidemiology · doi:10.1093/ije/dyx207 · Cited by 220 · see citing works
Self-citationBurgess, S., Zuber, V., Valdés‐Márquez, E., Sun, B. B., & Hopewell, J. C. (2017) · Genetic Epidemiology · doi:10.1002/gepi.22077 · Cited by 204 · see citing works
Self-citationKim-Hellmuth, S., Bechheim, M., Pütz, B., Mohammadi, P., Nédélec, Y., Giangreco, N., Becker, J., Kaiser, V. B., Fricker, N., Beier, E., et al. (2017) · Nature Communications · doi:10.1038/s41467-017-00366-1 · Cited by 196 · see citing works
Metabolomic Profiling of Statin Use and Genetic Inhibition of HMG-CoA Reductase
Würtz, P., Wang, Q., Soininen, P., Kangas, A. J., Fatemifar, G., Tynkkynen, T., Tiainen, M., Perola, M., Tillin, T., Hughes, A. D., et al. (2016) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2015.12.060 · Cited by 188 · see citing works
Self-citationChong, M., Sjaarda, J., Pigeyre, M., Mohammadi‐Shemirani, P., Lali, R., Shoamanesh, A., Gerstein, H. C., & Paré, G. (2019) · Circulation · doi:10.1161/circulationaha.119.040180 · Cited by 173 · see citing works
Cichońska, A., Rousu, J., Marttinen, P., Kangas, A. J., Soininen, P., Lehtimäki, T. J., Raitakari, O. T., Järvelin, M., Salomaa, V. V., Ala‐Korpela, M., et al. (2016) · Bioinformatics · doi:10.1093/bioinformatics/btw052 · Cited by 129 · see citing works
Cai, T., Zhang, Y., Ho, Y.-L. A., Link, N., Sun, J., Huang, J., Cai, T. A., Damrauer, S. M., Ahuja, Y., Honerlaw, J. P., et al. (2018) · JAMA Cardiology · doi:10.1001/jamacardio.2018.2287 · Cited by 110 · see citing works
Pierce, B. L., Lin, T., Argos, M., Demanelis, K., Jasmine, F., Rakibuz‐Zaman, M., Sarwar, G., Islam, T., Shahriar, H., Islam, T., et al. (2018) · Nature Communications · doi:10.1038/s41467-018-03209-9 · Cited by 86 · see citing works
Hemani, G., Bowden, J., Haycock, P., Zheng, J., Davis, O., Flach, P., Gaunt, T., & Smith, G. D. (2017) · doi:10.1101/173682 · Cited by 85 · see citing works
Self-citationMillwood, I. Y., Bennett, D., Holmes, M. V., Boxall, R., Guo, Y., Bian, Z., Yang, L., Sansome, S., Chen, Y., Du, H., et al. (2017) · JAMA Cardiology · doi:10.1001/jamacardio.2017.4177 · Cited by 83 · see citing works
Self-citationMining the Human Phenome Using Allelic Scores That Index Biological Intermediates
Evans, D. M., Brion, M., Paternoster, L., Kemp, J. P., McMahon, G., Munafo, M. R., Whitfield, J. B., Medland, S. E., Montgomery, G. W., Timpson, N. J., et al. (2013) · PLoS Genetics · doi:10.1371/journal.pgen.1003919 · Cited by 73 · see citing works
Self-citationThe druggable genome and support for target identification and validation in drug developmentPreprint
Finan, C., Gaulton, A., Krüger, F. A., et al. (2016) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/066027 · Cited by 73 · see citing works
Approaches to target tractability assessment – a practical perspective
Brown, K. K., Hann, M. M., Lakdawala, A. S., Santos, R., Thomas, P. J., & Todd, K. (2018) · MedChemComm · doi:10.1039/c7md00633k · Cited by 68 · see citing works
Self-citationHashizume, M., Tan, S., Takano, J., Ohsawa, K., Hasada, I., Hanasaki, A., Ito, I., Mihara, M., & Nishida, K. (2014) · International Reviews of Immunology · doi:10.3109/08830185.2014.938325 · Cited by 67 · see citing works
Richardson, T. G., Haycock, P., Zheng, J., Timpson, N. J., Gaunt, T. R., Smith, G. D., Relton, C. L., & Hemani, G. (2018) · Human Molecular Genetics · doi:10.1093/hmg/ddy210 · Cited by 56 · see citing works
Self-citationZheng, J., Richardson, T. G., Millard, L. A. C., Hemani, G., Elsworth, B., Raistrick, C. A., Vilhjálmsson, B. J., Neale, B. M., Haycock, P., Smith, G. D., et al. (2018) · GigaScience · doi:10.1093/gigascience/giy090 · Cited by 55 · see citing works
Self-citationmr.raps: Two Sample Mendelian Randomization using Robust Adjusted Profile Score
Zhao, Q. (2018) · doi:10.32614/cran.package.mr.raps · Cited by 53 · see citing works
Wu, Y., Broadaway, K. A., Raulerson, C. K., Scott, L. J., Pan, C., Ko, A., He, A., Tilford, C. A., Fuchsberger, C., Locke, A. E., et al. (2019) · Human Molecular Genetics · doi:10.1093/hmg/ddz263 · Cited by 52 · see citing works
Causal association of body mass index with hypertension using a Mendelian randomization design
Lee, M.-R., Lim, Y.-H., & Hong, Y.-C. (2018) · Medicine · doi:10.1097/md.0000000000011252 · Cited by 42 · see citing works
Millwood, I. Y., Bennett, D., Walters, R. G., Clarke, R., Waterworth, D. M., Johnson, T., Chen, Y., Yang, L., Yu, C., Bian, Z., et al. (2016) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2015.10.056 · Cited by 27 · see citing works
Self-citationKim-Hellmuth, S., Bechheim, M., Pütz, B., et al. (2017) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/116376 · Cited by 25 · see citing works
Solomon, T., Lapek, J. D., Jensen, S. B., Greenwald, W. W., Hindberg, K., Matsui, H., Latysheva, N., Braekken, S. K., Gonzalez, D. J., Frazer, K. A., et al. (2018) · Circulation: Genomic and Precision Medicine · doi:10.1161/circgen.118.002170 · Cited by 22 · see citing works
Millwood, I. Y., Bennett, D., Holmes, M. V., et al. (2018) · Greater South Information System · doi:10.60692/g0e61-jqz95 · Cited by 12 · see citing works
Self-citationZheng, J., Richardson, T. G., Millard, L. A. C., Hemani, G., Raistrick, C., Vilhjalmsson, B., Haycock, P., & Gaunt, T. R. (2017) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/148627 · Cited by 11 · see citing works
Self-citation[Pulsating exophthalmos caused by a contra-lateral carotico-cavernous fistula].
Girard, P., Allègre, G., Rougier, J., Marin, E., & Girod, M. (1966) · PubMed · Cited by 8 · see citing works
Diogo, D., Tian, C., Franklin, C. S., Alanne-Kinnunen, M., March, M., Spencer, C. C. A., Vangjeli, C., Weale, M. E., Mattsson, H., Kilpeläinen, E., et al. (2017) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/218875 · Cited by 8 · see citing works
Self-citationYao, C., Chen, G., Song, C., et al. (2017) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/136523 · Cited by 5 · see citing works
Stacey, D., Chen, L., Howson, J. M. M., Mason, A. M., Burgess, S., MacDonald, S. G., Langdown, J., McKinney, H., Downes, K., Farahi, N., et al. (2020) · medRxiv · doi:10.1101/2020.03.16.20036822 · Cited by 4 · see citing works
Self-citationTimpson, N. J. (2016) · International Journal of Epidemiology · doi:10.1093/ije/dyw197 · Cited by 3 · see citing works
Flagged first, then by citations
Cited by
Sorted by citations
Guidelines for performing Mendelian randomization investigations
Burgess, S., Smith, G. D., Davies, N. M., Dudbridge, F., Gill, D., Glymour, M. M., Hartwig, F. P., Holmes, M. V., Minelli, C., Relton, C. L., et al. (2019) · Wellcome Open Research · doi:10.12688/wellcomeopenres.15555.1 · Cited by 1,816 · see citing works
Self-citationLarge-scale integration of the plasma proteome with genetics and disease
Ferkingstad, E., Sulem, P., Atlason, B. A., Sveinbjornsson, G., Magnusson, M. I., Styrmisdottir, E. L., Gunnarsdottir, K., Helgason, A., Oddsson, A., Halldorsson, B. V., et al. (2021) · Nature Genetics · doi:10.1038/s41588-021-00978-w · Cited by 1,697 · see citing works
Skrivankova, V. W., Richmond, R. C., Woolf, B. A. R., Davies, N. M., Swanson, S. A., VanderWeele, T. J., Timpson, N. J., Higgins, J. P. T., Dimou, N., Langenberg, C., et al. (2021) · BMJ · doi:10.1136/bmj.n2233 · Cited by 1,648 · see citing works
Self-citationGuidelines for performing Mendelian randomization investigations
Burgess, S., Davey Smith, G., Davies, N. M., Dudbridge, F., Gill, D., Glymour, M. M., Hartwig, F. P., Holmes, M. V., Minelli, C., Relton, C. L., et al. (2020) · Wellcome Open Research · doi:10.12688/wellcomeopenres.15555.2 · Cited by 1,273 · see citing works
Self-citationMendelian Randomization: Concepts and Scope
Richmond, R. C., & Davey Smith, G. (2022) · Cold Spring Harbor Perspectives in Medicine · doi:10.1101/cshperspect.a040501 · Cited by 841 · see citing works
Self-citationZhao, J. H., Stacey, D., Eriksson, N., Macdonald-Dunlop, E., Hedman, Å. K., Kalnapenkis, A., Enroth, S., Cozzetto, D., Digby-Bell, J. L., Marten, J., et al. (2023) · Nature Immunology · doi:10.1038/s41590-023-01588-w · Cited by 768 · see citing works
Self-citationGuidelines for performing Mendelian randomization investigations: update for summer 2023
Burgess, S., Smith, G. D., Davies, N. M., Dudbridge, F., Gill, D., Glymour, M. M., Hartwig, F. P., Kutalik, Z., Holmes, M. V., Minelli, C., et al. (2023) · Wellcome Open Research · doi:10.12688/wellcomeopenres.15555.3 · Cited by 737 · see citing works
Self-citationMapping the proteo-genomic convergence of human diseases
Pietzner, M., Wheeler, E., Carrasco-Zanini, J., Cortes, A., Koprulu, M., Wörheide, M. A., Oerton, E., Cook, J., Stewart, I. D., Kerrison, N. D., et al. (2021) · Science · doi:10.1126/science.abj1541 · Cited by 657 · see citing works
Self-citationStroke genetics informs drug discovery and risk prediction across ancestries
Mishra, A., Malik, R., Hachiya, T., Jürgenson, T., Namba, S., Posner, D. C., Kamanu, F., Koido, M., Grand, Q. L., Shi, M., et al. (2022) · Nature · doi:10.1038/s41586-022-05165-3 · Cited by 593 · see citing works
Zuber, V., Grinberg, N. F., Gill, D., Manipur, I., Slob, E. A. W., Patel, A., Wallace, C., & Burgess, S. (2022) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2022.04.001 · Cited by 532 · see citing works
Self-citationGenomic and phenotypic insights from an atlas of genetic effects on DNA methylation
Min, J. L., Hemani, G., Hannon, E., Dekkers, K. F., Castillo-Fernandez, J., Luijk, R., Carnero-Montoro, E., Lawson, D. J., Burrows, K., Suderman, M., et al. (2021) · Nature Genetics · doi:10.1038/s41588-021-00923-x · Cited by 506 · see citing works
Self-citationGenetics meets proteomics: perspectives for large population-based studies
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
A compendium of uniformly processed human gene expression and splicing quantitative trait loci
Kerimov, N., Hayhurst, J. D., Peikova, K., Manning, J. R., Walter, P., Kolberg, L., Samoviča, M., Sakthivel, M. P., Kuzmin, I., Trevanion, S. J., et al. (2021) · Nature Genetics · doi:10.1038/s41588-021-00924-w · Cited by 440 · see citing works
The sequences of 150,119 genomes in the UK Biobank
Halldorsson, B. V., Eggertsson, H. P., Moore, K. H. S., Hauswedell, H., Eiriksson, O., Ulfarsson, M. O., Palsson, G., Hardarson, M. T., Oddsson, A., Jensson, B. O., et al. (2022) · Nature · doi:10.1038/s41586-022-04965-x · Cited by 448 · see citing works
Deciphering osteoarthritis genetics across 826,690 individuals from 9 populations
Boer, C. G., Hatzikotoulas, K., Southam, L., Stefánsdóttir, L., Zhang, Y., de Almeida, R. C., Wu, T. T., Zheng, J., Hartley, A. E., Teder‐Laving, M., et al. (2021) · Cell · doi:10.1016/j.cell.2021.07.038 · Cited by 441 · see citing works
Self-citationGlobal Biobank Meta-analysis Initiative: Powering genetic discovery across human disease
Zhou, W., Kanai, M., Wu, K.-H., Rasheed, H., Tsuo, K., Hirbo, J. B., Wang, Y., Bhattacharya, A., Zhao, H., Namba, S., et al. (2022) · Cell Genomics · doi:10.1016/j.xgen.2022.100192 · Cited by 414 · see citing works
Self-citationZhang, J., Dutta, D., Köttgen, A., Tin, A., Schlosser, P., Grams, M. E., Harvey, B., CKDGen Consortium, Yu, B., Boerwinkle, E., et al. (2022) · Nature Genetics · doi:10.1038/s41588-022-01051-w · Cited by 373 · see citing works
Refining the impact of genetic evidence on clinical success
Minikel, E. V., Painter, J. L., Dong, C. C., & Nelson, M. R. (2024) · Nature · doi:10.1038/s41586-024-07316-0 · Cited by 338 · see citing works
Self-citationAtlas of the plasma proteome in health and disease in 53,026 adults
Deng, Y., You, J., He, Y., Zhang, Y., Li, H., Wu, X., Cheng, J.-Y., Guo, Y. A., Long, Z.-W., Chen, Y.-L., et al. (2024) · Cell · doi:10.1016/j.cell.2024.10.045 · Cited by 309 · see citing works
Self-citationAdvancing the use of genome-wide association studies for drug repurposing
Reay, W. R., & Cairns, M. J. (2021) · Nature Reviews Genetics · doi:10.1038/s41576-021-00387-z · Cited by 277 · see citing works
Potential drug targets for multiple sclerosis identified through Mendelian randomization analysis
Lin, J., Zhou, J., & Xu, Y. (2023) · Brain · doi:10.1093/brain/awad070 · Cited by 271 · see citing works
Zhou, S., Butler‐Laporte, G., Nakanishi, T., Morrison, D., Afilalo, J., Afilalo, M., Laurent, L., Pietzner, M., Kerrison, N. D., Zhao, K., et al. (2021) · Nature Medicine · doi:10.1038/s41591-021-01281-1 · Cited by 273 · see citing works
Synergistic insights into human health from aptamer- and antibody-based proteomic profiling
Pietzner, M., Wheeler, E., Carrasco-Zanini, J., Kerrison, N. D., Oerton, E., Koprulu, M., Luan, J., Hingorani, A. D., Williams, S. A., Wareham, N. J., et al. (2021) · Nature Communications · doi:10.1038/s41467-021-27164-0 · Cited by 234 · see citing works
From target discovery to clinical drug development with human genetics
Trajanoska, K., Bhérer, C., Taliun, D., Zhou, S., Richards, J. B., & Mooser, V. (2023) · Nature · doi:10.1038/s41586-023-06388-8 · Cited by 222 · see citing works
Causality-enriched epigenetic age uncouples damage and adaptation
Ying, K., Liu, H., Tarkhov, A. E., Sadler, M. C., Lu, A. T.-H., Moqri, M., Horvath, S., Kutalik, Z., Shen, X., & Gladyshev, V. N. (2024) · Nature Aging · doi:10.1038/s43587-023-00557-0 · Cited by 213 · 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
Katz, D. H., Robbins, J. M., Deng, S., Tahir, U. A., Bick, A. G., Pampana, A., Yu, Z., Ngo, D., Benson, M. D., Chen, Z.-Z., et al. (2022) · Science Advances · doi:10.1126/sciadv.abm5164 · Cited by 206 · see citing works
Rare variant associations with plasma protein levels in the UK Biobank
Dhindsa, R. S., Burren, O. S., Sun, B. B., Prins, B. P., Matelska, D., Wheeler, E., Mitchell, J., Oerton, E., Hristova, V. A., Smith, K. R., et al. (2023) · Nature · doi:10.1038/s41586-023-06547-x · Cited by 193 · see citing works
Self-citationShared mechanisms across the major psychiatric and neurodegenerative diseases
Wingo, T. S., Liu, Y., Gerasimov, E. S., Vattathil, S. M., Wynne, M. E., Liu, J., Lori, A., Faundez, V., Bennett, D. A., Seyfried, N. T., et al. (2022) · Nature Communications · doi:10.1038/s41467-022-31873-5 · Cited by 199 · see citing works
Self-citationHolmes, M. V., Richardson, T. G., Ference, B. A., Davies, N. M., & Davey Smith, G. (2021) · Nature Reviews Cardiology · doi:10.1038/s41569-020-00493-1 · Cited by 184 · see citing works
Self-citationSun, J., Zhao, J., Jiang, F., Wang, L., Xiao, Q., Han, F., Chen, J., Yuan, S., Wei, J., Larsson, S. C., et al. (2023) · Genome Medicine · doi:10.1186/s13073-023-01229-9 · Cited by 192 · see citing works
Circulating inflammatory cytokines and risk of five cancers: a Mendelian randomization analysis
Bouras, E., Karhunen, V., Gill, D., Huang, J. V., Haycock, P., Gunter, M. J., Johansson, M., Brennan, P., Key, T. J., Lewis, S. J., et al. (2022) · BMC Medicine · doi:10.1186/s12916-021-02193-0 · Cited by 172 · see citing works
Self-citationRosa, M., Chignon, A., Li, Z., Boulanger, M., Arsenault, B. J., Bossé, Y., Thériault, S., & Mathieu, P. (2019) · npj Genomic Medicine · doi:10.1038/s41525-019-0097-4 · Cited by 167 · see citing works
Brain proteome-wide association study implicates novel proteins in depression pathogenesis
Wingo, T. S., Liu, Y., Gerasimov, E. S., Gockley, J., Logsdon, B. A., Duong, D. M., Dammer, E. B., Lori, A., Kim, P. J., Ressler, K. J., et al. (2021) · Nature Neuroscience · doi:10.1038/s41593-021-00832-6 · Cited by 159 · see citing works
Self-citationStatistical methods for cis‐Mendelian randomization with two‐sample summary‐level data
Gkatzionis, A., Burgess, S., & Newcombe, P. J. (2022) · Genetic Epidemiology · doi:10.1002/gepi.22506 · Cited by 157 · see citing works
Self-citationBurgess, S., Mason, A. M., Grant, A. J., Slob, E. A. W., Gkatzionis, A., Zuber, V., Patel, A. R., Tian, H., Liu, C., Haynes, W. G., et al. (2023) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2022.12.017 · Cited by 148 · see citing works
Self-citationBiological and functional multimorbidity—from mechanisms to management
Langenberg, C., Hingorani, A. D., & Whitty, C. W. M. (2023) · Nature Medicine · doi:10.1038/s41591-023-02420-6 · Cited by 152 · see citing works
Walker, K. A., Chen, J., Shi, L., Yang, Y., Fornage, M., Zhou, L., Schlosser, P., Surapaneni, A., Grams, M. E., Duggan, M. R., et al. (2023) · Science Translational Medicine · doi:10.1126/scitranslmed.adf5681 · Cited by 148 · see citing works
Levin, M. G., Tsao, N. L., Singhal, P., Liu, C., Vy, H. M. T., Paranjpe, I., Backman, J., Bellomo, T. R., Bone, W. P., Biddinger, K. J., et al. (2022) · Nature Communications · doi:10.1038/s41467-022-34216-6 · Cited by 144 · see citing works
Yuan, S., Xu, F., Li, X., Chen, J., Zheng, J., Mantzoros, C. S., & Larsson, S. C. (2023) · Cell Reports Medicine · doi:10.1016/j.xcrm.2023.101174 · Cited by 145 · see citing works
Self-citationGenetic architecture of host proteins involved in SARS-CoV-2 infection
Pietzner, M., Wheeler, E., Carrasco-Zanini, J., Raffler, J., Kerrison, N. D., Oerton, E., Auyeung, V. P. W., Luan, J., Finan, C., Casas, J. P., et al. (2020) · Nature Communications · doi:10.1038/s41467-020-19996-z · Cited by 145 · see citing works
Deng, Y., Ou, Y., Wu, B., Yang, Y., Jiang, Y. P., Huang, Y., Liu, Y., Tan, L., Dong, Q., John Suckling, A., et al. (2022) · Molecular Psychiatry · doi:10.1038/s41380-022-01507-9 · Cited by 139 · see citing works
Self-citationMendelian randomization for studying the effects of perturbing drug targets
Gill, D., Georgakis, M. K., Walker, V. M., Schmidt, A. F., Gkatzionis, A., Freitag, D. F., Finan, C., Hingorani, A. D., Howson, J. M. M., Burgess, S., et al. (2021) · Wellcome Open Research · doi:10.12688/wellcomeopenres.16544.2 · Cited by 280 · see citing works
Self-citationMessner, C. B., Demichev, V., Wang, Z., Hartl, J., Kustatscher, G., Mülleder, M., & Ralser, M. (2022) · PROTEOMICS · doi:10.1002/pmic.202200013 · Cited by 134 · see citing works
Chen, L., Peters, J. E., Prins, B. P., Persyn, E., Traylor, M., Surendran, P., Karthikeyan, S., Yonova‐Doing, E., Angelantonio, E. D., Roberts, D. J., et al. (2022) · Nature Communications · doi:10.1038/s41467-022-33675-1 · Cited by 132 · see citing works
Self-citationButler‐Laporte, G., Nakanishi, T., Mooser, V., Morrison, D., Abdullah, T., Adeleye, O., Mamlouk, N., Kimchi, N., Afrasiabi, Z., Rezk, N., et al. (2021) · PLoS Medicine · doi:10.1371/journal.pmed.1003605 · Cited by 127 · see citing works
Blazev, R., Carl, C. S., Ng, Y., Molendijk, J., Voldstedlund, C. T., Zhao, Y., Xiao, D., Kueh, A. J., Miotto, P. M., Haynes, V. R., et al. (2022) · Cell Metabolism · doi:10.1016/j.cmet.2022.07.003 · Cited by 111 · see citing works
Western, D., Timsina, J., Wang, L., Wang, C., Yang, C., Phillips, B., Wang, Y., Liu, M., Ali, M., Beric, A., et al. (2024) · Nature Genetics · doi:10.1038/s41588-024-01972-8 · Cited by 111 · see citing works
Zheng, J., Xu, M., Walker, V. M., Yuan, J., Korologou‐Linden, R., Robinson, J. W., Huang, P., Burgess, S., Yeung, S. L. A., Luo, S., et al. (2022) · Diabetologia · doi:10.1007/s00125-022-05743-0 · Cited by 110 · see citing works
Self-citationCao, Y., Yang, Y., Hu, Q., & Wei, G. (2023) · Journal of Translational Medicine · doi:10.1186/s12967-023-04474-z · Cited by 107 · see citing works
Roychowdhury, T., Klarin, D. M., Levin, M. G., Spin, J. M., Rhee, Y. H., Deng, A. C., Headley, C. A., Tsao, N. L., Gellatly, C., Zuber, V., et al. (2023) · Nature Genetics · doi:10.1038/s41588-023-01510-y · Cited by 110 · see citing works
Self-citationRevealing the role of the human blood plasma proteome in obesity using genetic drivers
Zaghlool, S. B., Sharma, S., Molnar, M., Matías‐García, P. R., Elhadad, M. A., Waldenberger, M., Peters, A., Rathmann, W., Graumann, J., Gieger, C., et al. (2021) · Nature Communications · doi:10.1038/s41467-021-21542-4 · Cited by 100 · see citing works
Integrative analysis of the plasma proteome and polygenic risk of cardiometabolic diseases
Ritchie, S. C., Lambert, S. A., Arnold, M., Teo, S. M., Lim, S. I., Šćepanović, P., Marten, J., Zahid, S., Chaffin, M. D., Liu, Y., et al. (2021) · Nature Metabolism · doi:10.1038/s42255-021-00478-5 · Cited by 94 · see citing works
Self-citationAdvances in Integrated Multi-omics Analysis for Drug-Target Identification
Du, P., Fan, R., Zhang, N., Wu, C., & Zhang, Y. (2024) · Biomolecules · doi:10.3390/biom14060692 · Cited by 97 · see citing works
Georgakis, M. K., & Gill, D. (2021) · Stroke · doi:10.1161/strokeaha.120.032617 · Cited by 97 · see citing works
Zhao, H., Rasheed, H., Nøst, T. H., Cho, Y., Liu, Y., Bhatta, L., Bhattacharya, A., Initiative, G. B. M.-A., Hemani, G., Smith, G. D., et al. (2022) · Cell Genomics · doi:10.1016/j.xgen.2022.100195 · Cited by 89 · see citing works
Self-citationSystematic review of Mendelian randomization studies on risk of cancer
Markozannes, G., Kanellopoulou, A., Dimopoulou, O., Kosmidis, D., Zhang, X., Wang, L., Τheodoratou, E., Gill, D., Burgess, S., & Tsilidis, K. K. (2022) · BMC Medicine · doi:10.1186/s12916-022-02246-y · Cited by 89 · see citing works
Self-citationWilliams, S. A., Ostroff, R., Hinterberg, M. A., Coresh, J., Ballantyne, C. M., Matsushita, K., Mueller, C. E., Walter, J., Jonasson, C., Holman, R. R., et al. (2022) · Science Translational Medicine · doi:10.1126/scitranslmed.abj9625 · Cited by 97 · see citing works
Using human genetics to improve safety assessment of therapeutics
Carss, K., Deaton, A. M., Río-Espínola, A. D., Diogo, D., Fielden, M. R., Kulkarni, D. A., Moggs, J. G., Newham, P., Nelson, M. R., Sistare, F. D., et al. (2022) · Nature Reviews Drug Discovery · doi:10.1038/s41573-022-00561-w · Cited by 88 · see citing works
Self-citationYang, Q., Sanderson, E., Tilling, K., Borges, M. C., & Lawlor, D. A. (2019) · doi:10.1101/19009605 · Cited by 85 · see citing works
Baird, D. A., Liu, J. Z., Zheng, J., Sieberts, S. K., Perumal, T. M., Elsworth, B., Richardson, T. G., Chen, C., Carrasquillo, M. M., Allen, M., et al. (2021) · PLoS Genetics · doi:10.1371/journal.pgen.1009224 · Cited by 79 · see citing works
Self-citationFrom genetic associations to genes: methods, applications, and challenges
Qi, T., Song, L., Guo, Y., Chen, C., & Yang, J. (2024) · Trends in Genetics · doi:10.1016/j.tig.2024.04.008 · Cited by 84 · see citing works
Ren, A. H., Diamandis, E. P., & Kulasingam, V. (2021) · Molecular & Cellular Proteomics · doi:10.1016/j.mcpro.2021.100155 · Cited by 79 · see citing works
Luo, S., Liang, Y., Wong, T. H. T., Schooling, C. M., & Yeung, S. L. A. (2022) · International Journal of Epidemiology · doi:10.1093/ije/dyac076 · Cited by 76 · see citing works
Self-citationSequential immunotherapy: towards cures for autoimmunity
Ramírez‐Valle, F., Maranville, J., Roy, S., & Plenge, R. M. (2024) · Nature Reviews Drug Discovery · doi:10.1038/s41573-024-00959-8 · Cited by 80 · see citing works
Self-citationShen, C., Zhang, R., Yu, J., Sahakian, B. J., Cheng, W., & Feng, J. (2025) · Nature Human Behaviour · doi:10.1038/s41562-024-02078-1 · Cited by 77 · see citing works
Kibinge, N., Relton, C. L., Gaunt, T. R., & Richardson, T. G. (2020) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2020.04.007 · Cited by 68 · see citing works
Self-citationBourgault, J., Abner, E., Manikpurage, H. D., Pujol‐Gualdo, N., Laisk, T., Gobeil, É., Gagnon, É., Girard, A. S., Mitchell, P. L., Thériault, S., et al. (2023) · Gastroenterology · doi:10.1053/j.gastro.2023.01.028 · Cited by 74 · see citing works
Goudswaard, L. J., Bell, J. A., Hughes, D. A., Corbin, L. J., Walter, K., Smith, G. D., Soranzo, N., Danesh, J., Angelantonio, E. D., Ouwehand, W. H., et al. (2021) · International Journal of Obesity · doi:10.1038/s41366-021-00896-1 · Cited by 72 · see citing works
Self-citationYazdanpanah, N., Yazdanpanah, M., Wang, Y., Forgetta, V., Pollak, M., Polychronakos, C., Richards, J. B., & Manousaki, D. (2021) · Diabetes Care · doi:10.2337/dc21-1049 · Cited by 67 · see citing works
Guo, Y. X., Chen, S.-D., You, J., Huang, S.-Y., Chen, Y., Zhang, Y., Wang, L., He, X., Deng, Y., Zhang, Y.-R., et al. (2024) · Nature Human Behaviour · doi:10.1038/s41562-024-01924-6 · Cited by 65 · see citing works
Plasma proteome variation and its genetic determinants in children and adolescents
Niu, L., Stinson, S. E., Holm, L. A., Lund, M. A. V., Fonvig, C. E., Cobuccio, L., Meisner, J., Juel, H. B., Fadista, J., Thiele, M. S., et al. (2025) · Nature Genetics · doi:10.1038/s41588-025-02089-2 · Cited by 64 · see citing works
Emerging phenotyping strategies will advance our understanding of psychiatric genetics
Sanchez‐Roige, S., & Palmer, A. A. (2020) · Nature Neuroscience · doi:10.1038/s41593-020-0609-7 · Cited by 67 · see citing works
Mendelian randomization as a tool to inform drug development using human genetics
Daghlas, I., & Gill, D. (2023) · Cambridge Prisms Precision Medicine · doi:10.1017/pcm.2023.5 · Cited by 65 · see citing works
A practical guideline of genomics-driven drug discovery in the era of global biobank meta-analysis
Namba, S., Konuma, T., Wu, K.-H., Zhou, W., Initiative, G. B. M.-A., & Okada, Y. (2022) · Cell Genomics · doi:10.1016/j.xgen.2022.100190 · Cited by 65 · see citing works
Clinlabomics: leveraging clinical laboratory data by data mining strategies
Wen, X., Leng, P., Wang, J., Yang, G., Zu, R., Jia, X., Zhang, K., Mengesha, B. A., Huang, J. H., Wang, D., et al. (2022) · BMC Bioinformatics · doi:10.1186/s12859-022-04926-1 · Cited by 63 · see citing works
Rottner, A. K., Ye, Y., Navarro‐Guerrero, E., Rajesh, V., Pollner, A., Bevacqua, R. J., Yang, J., Spigelman, A. F., Baronio, R., Bautista, A., et al. (2022) · Nature Genetics · doi:10.1038/s41588-022-01261-2 · Cited by 61 · see citing works
Ahn, K., Penn, R. B., Rattan, S. C., Panettieri, R. A., Voight, B. F., & An, S. S. (2022) · American Journal of Respiratory and Critical Care Medicine · doi:10.1164/rccm.202205-0951oc · Cited by 61 · see citing works
Luo, S., Wong, I. C. K., Chui, C. S. L., Zheng, J., Huang, Y., Schooling, C. M., & Yeung, S. L. A. (2023) · The Lancet Healthy Longevity · doi:10.1016/s2666-7568(23)00085-5 · Cited by 60 · see citing works
Self-citationEpiGraphDB: a database and data mining platform for health data science
Liu, Y., Elsworth, B., Erola, P., Haberland, V., Hemani, G., Lyon, M., Zheng, J., Lloyd, O. C., Vabistsevits, M., & Gaunt, T. R. (2020) · Bioinformatics · doi:10.1093/bioinformatics/btaa961 · Cited by 60 · see citing works
Self-citationWatts, E. L., Perez‐Cornago, A., Fensom, G. K., Smith‐Byrne, K., Noor, U., Andrews, C. D., Gunter, M. J., Holmes, M. V., Martin, R. M., Tsilidis, K. K., et al. (2022) · International Journal of Epidemiology · doi:10.1093/ije/dyac124 · Cited by 60 · see citing works
Self-citationPrapiadou, S., Živković, L., Thorand, B., George, M. J., van der Laan, S. W., Malik, R., Herder, C., Köenig, W., Ueland, T., Kleveland, O., et al. (2023) · Circulation · doi:10.1161/circulationaha.123.064974 · Cited by 60 · see citing works
Strengthening Causal Inference for Complex Disease Using Molecular Quantitative Trait Loci
Neumeyer, S., Hemani, G., & Zeggini, E. (2019) · Trends in Molecular Medicine · doi:10.1016/j.molmed.2019.10.004 · Cited by 53 · see citing works
Self-citationTimmers, P. R. H. J., Tiys, E., Sakaue, S., Akiyama, M., Kiiskinen, T., Zhou, W., Hwang, S., Yao, C., Biobank Japan Project, Kamatani, Y., et al. (2022) · Nature Aging · doi:10.1038/s43587-021-00159-8 · Cited by 59 · see citing works
Yang, C., Fagan, A. M., Perrin, R. J., Rhinn, H., Harari, O., & Cruchaga, C. (2022) · Genome Medicine · doi:10.1186/s13073-022-01140-9 · Cited by 53 · see citing works
Fang, S., Yarmolinsky, J., Gill, D., Bull, C. J., Perks, C. M., the PRACTICAL Consortium, Davey Smith, G., Gaunt, T. R., & Richardson, T. G. (2023) · PLOS Medicine · doi:10.1371/journal.pmed.1003988 · Cited by 55 · see citing works
Self-citationGe, Y., Ou, Y., Deng, Y., Wu, B., Liu, Y., Zhang, Y.-R., Chen, S.-D., Huang, Y., Dong, Q., Tan, L., et al. (2022) · Biological Psychiatry · doi:10.1016/j.biopsych.2022.11.002 · Cited by 52 · see citing works
Self-citationCoding and regulatory variants are associated with serum protein levels and disease
Emilsson, V., Guðmundsdóttir, V., Guðjónsson, A., Jónmundsson, Þ., Jonsson, B. G., Karim, M. A., Ilkov, M., Staley, J. R., Gudmundsson, E. F., Launer, L. J., et al. (2022) · Nature Communications · doi:10.1038/s41467-022-28081-6 · Cited by 59 · see citing works
Self-citationEvaluating 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
Circulating Proteins Influencing Psychiatric Disease: A Mendelian Randomization Study
Lu, T., Forgetta, V., Greenwood, C. M. T., Zhou, S., & Richards, J. B. (2022) · Biological Psychiatry · doi:10.1016/j.biopsych.2022.08.015 · Cited by 53 · see citing works
Proteomic cardiovascular risk assessment in chronic kidney disease
Deo, R., Dubin, R. F., Ren, Y., Murthy, A. C., Wang, J., Zheng, H., Zheng, Z., Feldman, H. I., Shou, H., Coresh, J., et al. (2023) · European Heart Journal · doi:10.1093/eurheartj/ehad115 · Cited by 56 · see citing works
Harbaum, L., Rhodes, C. J., Wharton, J., Lawrie, A., Karnes, J. H., Desai, A. A., Nichols, W. C., Humbert, M. J. C., Montani, D., Girerd, B., et al. (2022) · American Journal of Respiratory and Critical Care Medicine · doi:10.1164/rccm.202109-2106oc · Cited by 52 · see citing works
Wu, Y., Qi, T., Wray, N. R., Visscher, P. M., Zeng, J., & Yang, J. (2023) · Cell Genomics · doi:10.1016/j.xgen.2023.100344 · Cited by 52 · see citing works
Genetics of chronic respiratory disease
Sayers, I., John, C., Chen, J., & Hall, I. P. (2024) · Nature Reviews Genetics · doi:10.1038/s41576-024-00695-0 · Cited by 52 · see citing works
Cui, H., Zhang, W., Zhang, L., Qu, Y., Xu, Z., Tan, Z., Yan, P., Tang, M., Yang, C., Wang, Y., et al. (2024) · PLoS Medicine · doi:10.1371/journal.pmed.1004362 · Cited by 52 · see citing works
Self-citationWang, C., Yang, C., Western, D., Ali, M., Wang, Y., Phuah, C., Budde, J., Wang, L., Gorijala, P., Timsina, J., et al. (2024) · Nature Genetics · doi:10.1038/s41588-024-01973-7 · Cited by 51 · see citing works
Cipriani, V., Tierney, A. L., Griffiths, J. R., Zuber, V., Sergouniotis, P. I., Yates, J. R. W., Moore, A. T., Bishop, P. N., Clark, S. J., & Unwin, R. D. (2021) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2021.05.015 · Cited by 50 · see citing works
Walker, V. M., Zheng, J., Gaunt, T. R., & Smith, G. D. (2022) · Annual Review of Biomedical Data Science · doi:10.1146/annurev-biodatasci-122120-024910 · Cited by 43 · see citing works
Self-citationPlasma protein and venous thromboembolism: prospective cohort and mendelian randomisation analyses
Yuan, S., Titova, O. E., Zhang, K., Gou, W., Schillemans, T., Natarajan, P., Chen, J., Li, X., Åkesson, A., Bruzelius, M., et al. (2023) · British Journal of Haematology · doi:10.1111/bjh.18679 · Cited by 45 · see citing works
Application and challenges of nitrogen heterocycles in PROTAC linker
Li, Y., Qu, J., Jiang, L., Peng, X., Wu, K., Chen, M., Peng, Y., & Cao, X. (2024) · European Journal of Medicinal Chemistry · doi:10.1016/j.ejmech.2024.116520 · Cited by 45 · see citing works
- Authors
- Zheng, J., Haberland, V., Baird, D., Walker, V., Haycock, P., Hurle, M., Gutteridge, A., Erola, P., Liu, Y., Luo, S., Robinson, J., Richardson, T. G., Staley, J. R., Elsworth, B., Burgess, S., Sun, B. B., Danesh, J., Runz, H., Maranville, J. C., Martin, H. M., Yarmolinsky, J., Laurin, C., Holmes, M. V., Liu, J., Estrada, K., Santos, R., McCarthy, L., Waterworth, D., Nelson, M. R., Hemani, G., Smith, G. D., Butterworth, A. S., Scott, R. A., & Gaunt, T. R.
- Affiliations
- University of Bristol (GB)
- GlaxoSmithKline (United States) (US)
- GlaxoSmithKline (United Kingdom) (GB)
- University of Cambridge (GB)
- Biogen (United States) (US)
- University of Edinburgh (GB)
- National Institute for Health and Care Research (GB)
- Corresponding author
- Zheng, Jie
- Scott, Robert A.
- Gaunt, Tom R.
- ORCID
- Zheng, Jie
- Haberland, Valeriia
- Baird, Denis
- Walker, Venexia
- Haycock, Philip
- Gutteridge, Alex
- Erola, Pau
- Liu, Yi
- Luo, Shan
- Robinson, Jamie
- Richardson, Tom G.
- Staley, James R.
- Elsworth, Benjamin
- Burgess, Stephen
- Sun, Benjamin B.
- Danesh, John
- Runz, Heiko
- Maranville, Joseph C.
- Martin, Hannah M.
- Yarmolinsky, James
- Laurin, Charles
- Holmes, Michael V.
- Liu, Jimmy
- Estrada, Karol
- Santos, Rita
- Waterworth, Dawn
- Nelson, Matthew R.
- Hemani, Gibran
- Smith, George Davey
- Butterworth, Adam S.
- Scott, Robert A.
- Gaunt, Tom R.
- Venue
- Nature Genetics
- Publisher
- openRxiv
- Published
- 2019-05-05
- Volume
- 52
- Issue
- 10
- Pages
- 1122-1131
- ISSN
- 1061-4036 (ISSN-L)
- PMC
- PMC7610464
- OpenAlex
- W3083496521
- Cited by
- 812
- References
- 91
- Citations by year
- 2026: 128 · 2025: 198 · 2024: 212 · 2023: 114 · 2022: 76 · 2021: 56 · 2020: 21 · 2019: 7
- FWCI
- 39.51
- Type
- journal article
- Language
- en
- Open access
- green
- doi.org
- Licence
- cc-by-nd
- Locations
- Nature Genetics (publishedVersion)
- bioRxiv (Cold Spring Harbor Laboratory) (acceptedVersion, cc-by-nd)
- PubMed (publishedVersion)
- Brunel University Research Archive (BURA) (Brunel University London) (acceptedVersion)
- UEA Digital Repository (University of East Anglia) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Bristol Research (University of Bristol) (submittedVersion, other-oa)
- Apollo (University of Cambridge) (submittedVersion)
- Apollo
- Funders
- Pfizer
- AstraZeneca
- GlaxoSmithKline
- Sanofi
- Biogen
- NHS Blood and Transplant (NIHR BTRU-2014-10024)
- Wellcome Trust (204623/Z/16/Z, 102215/2/13/2), 208806, Z/17/Z, 217065/Z/19/Z, 102215, 208806/Z/17/Z, BTRU-2014-10024, 217065)
- Scottish Government
- University Hospitals Bristol NHS Foundation Trust
- Cancer Research UK (C18281/, 29019, C18281 / A19169, 10024, MC_UU_00011/1, 20138, A19169, C52724/A20138, 19169, MC_UU_00011/4)
- National Institute for Health and Care Research (C18281/A19169, NIHR BTRU‐2014‐10024, BTRU-2014–10024, RG/18/13/33946, MC_UU_00011/4, RG/13/13/30194, MC_UU_00011/1)
- British Heart Foundation (MC_UU_00011/1, RG/18/13/33946, 18/23/33512, SP/09/002, RG/13/13/30194, FS/18/23/33512)
- Department of Health and Social Care
- Royal Society (208806/Z/17/Z, Z/17/Z)
- University of Cambridge
- University of Oxford
- University of Bristol (MC_UU_00011/4, C18281/A19169, MC_UU_00011/1, 102215/2/13/2)
- Public Health Agency
- Cambridge University Hospitals
- University of Hong Kong
- Chief Scientist Office, Scottish Government Health and Social Care Directorate
- NIHR BioResource
- Elizabeth Blackwell Institute for Health Research, University of Bristol
- Medical Research Council (102215, RG/13/13/30194, MC_UU_00011/4, SP/09/002, ref: 102215/2/13/2, MR/L003120/1, RG/18/13/33946, 102215/2/13/2, MC_PC_15018, MC_UU_00011/1, MR/L003120, MC_PC_19009, MC_UU_00011/1 and MC_UU_00011/4, MC_UU_00011)
- Engineering and Physical Sciences Research Council
- Economic and Social Research Council (102215/2/13/2)
- Health and Social Care Research and Development Division
- NIHR Cambridge Biomedical Research Centre (BTRU-2014-10024, MR/L003120/1)
- Health Data Research UK
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Bioinformatics and Genomic Networks
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Mapping and Diversity in Plants and Animals
- Keywords
- plasma proteome, plasma protein levels, phenome-wide association study, Mendelian randomization, colocalization, genetic confounding, linkage disequilibrium, complex diseases, drug target prioritization, drug development
- MeSH terms
- Blood Proteins, Humans, Phenotype, Genetic Predisposition to Disease, Proteome, Polymorphism, Single Nucleotide, Genome-Wide Association Study, Mendelian Randomization Analysis
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
