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Articles by Eric Fauman
Common genetic modifiers influence cardiomyopathy susceptibility among the carriers of rare pathogenic variants
ArticleOnline now100460Open access 1Internal Medicine Research Unit, Pfizer Research and Development, Cambridge, MA, 02139, USA 2Rare Disease Research Unit, Pfizer Research and Development, Cambridge, MA, 02139, USA 3Clinical Omics and Biomarker Statistics, Pfizer Research and Development, Cambridge, MA, 02139, USA 4Machine Learning and Computational Sciences, Pfizer Research and Development, Cambridge, MA, 02139, USA Publication History: Received December 17, 2024; Accepted May 19, 2025;...
Assessing the potential causal effects of 1099 plasma metabolites on 2099 binary disease endpoints - Nature Communications
Abstract Metabolites are small molecules that are useful for estimating disease risk and elucidating disease biology. Here, we perform two-sample Mendelian randomization to systematically infer the potential causal effects of 1099 plasma metabolites measured in 6136 Finnish men from the METSIM study on risk of 2099 binary disease endpoints measured in 309,154 Finnish individuals from FinnGen. We find evidence for 282 putative causal effects of 70 metabolites on 183 disease endpoints.
Mendelian randomisation with proxy exposures: challenges and opportunities
The authors have declared no competing interest. I.R., K.A, and R.T. were supported by a grant from the Estonian Research Council (grant no PSG415). I confirm all relevant ethical guidelines have been followed, and any necessary IRB and/or ethics committee approvals have been obtained. Yes The details of the IRB/oversight body that provided approval or exemption for the research described are given below: The UK Biobank study was approved by the North West Multi-Centre Research Ethics Committee.
Plasma proteomic associations with genetics and health in the UK Biobank - Nature
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Abstract The Pharma Proteomics Project is a precompetitive biopharmaceutical consortium characterizing the plasma proteomic profiles of 54,219 UK Biobank participants. Here we provide a detailed summary of this initiative, including technical and biological validations, insights into proteomic disease signatures, and prediction modelling for various demographic and health indicators.
By Benjamin B. Sun, Joshua Chiou, Anubha Mahajan, Tinchi Lin, Lucas Ward, Aimee M. Deaton, Matthias Arnold, Karsten Suhre, Anurag Sethi, Madeleine Cule, Bristol Myers Squibb, Eugene Melamud, Eric Fauman, Joanna M. M. Howson, Slavé Petrovski, Robert Scott, Sandor Szalma, Dawn Waterworth, Joseph D. Szustakowski, Bradford W. Gibson
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Rare and common genetic determinants of metabolic individuality and their effects on human health - Nature Medicine
Contributing studies and metabolite measurements Study description Samples from two UK-based cohort studies—EPIC-Norfolk and INTERVAL—were included in the current analyses6,7. INTERVAL The INTERVAL study (https://www.intervalstudy.org.uk) comprises up to 50,000 participants nested within a randomized trial of varying blood donation intervals recruited at 25 centers of England’s National Health Service Blood and Transplant (NHSBT).
Mapping of 79 loci for 83 plasma protein biomarkers in cardiovascular disease
Recent advances in highly multiplexed immunoassays have allowed systematic large-scale measurement of hundreds of plasma proteins in large cohort studies. In combination with genotyping, such studies offer the prospect to 1) identify mechanisms involved with regulation of protein expression in plasma, and 2) determine whether the plasma proteins are likely to be causally implicated in disease.
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