ArticleNature metabolism2023
Proteogenomic links to human metabolic diseases.
Article in Nature metabolism, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 33 papers.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
33 citing papers in PubMed, 46 citations in OpenAlex.
- Trial
- Polygenic risk scores and plasma proteomics identify cancer-related proteins and trans-regulated protein networks.Cell genomics · 2026Article
- Protein mediators of chronic kidney disease in Type 2 diabetes: A mendelian randomization study.PLoS medicine · 2026Article
- Diet-responsive proteogenomic effects following short-term restriction of animal products in humans.Nature communications · 2026Article
- Nanoparticle-enriched mass spectrometry proteomics in British South Asians identifies links between genetic variants, plasma protein levels and disease risk.Nature genetics · 2026Article
- Transcriptomics-based multi-omics approach for optimizing risk stratification in acute myeloid leukemia.Blood science (Baltimore, Md.) · 2026Article
- Multi-cohort proteogenomic analyses reveal genetic effects across the proteome and diseasome.Cell · 2026Article
- Longitudinal plasma proteomic signatures of elite and viremic spontaneous HIV controllers.Nature communications · 2026Article
- Enhanced TLR7-induced interferon responses in women living with HIV.Frontiers in immunology · 2026Article
- Genetic profiling of the circulating proteome in common diseases suggests causal proteins and improves risk prediction.Nature communications · 2025Article
- Leveraging and partitioning polygenic risk scores to identify cancer-related proteins.medRxiv : the preprint server for health sciences · 2025Article
- Leveraging Proteomics and Proteogenomics for Understanding Osteoporosis and Other Musculoskeletal Diseases.Current osteoporosis reports · 2025Review
- Proteomic prediction of disease largely reflects environmental risk exposure.medRxiv : the preprint server for health sciences · 2025Article
- Dolutegravir plus lamivudine downregulates cellular stress responses vs. three-drug HIV regimens.AIDS (London, England) · 2025Article
- Protein quantitative trait locus analysis in African American and non-Hispanic White individuals.Genome biology · 2025Article
- Identification of Potential Therapeutic Targets for Coronary Atherosclerosis from an Inflammatory Perspective Through Integrated Proteomics and Single-Cell Omics.International journal of molecular sciences · 2025Article
- Integrative Analysis of Plasma Proteomics and Transcriptomics Reveals Potential Therapeutic Targets for Psoriasis.Biomedicines · 2025Article
- Sex differences in the genetic regulation of the human plasma proteome.Nature communications · 2025Article
- Genetics of circulating proteins in newborn babies at high risk of type 1 diabetes.Nature communications · 2025Article
- Multi-omic studies on the pathogenesis of Sepsis.Journal of translational medicine · 2025Article
Corrections and comments
- Commented on by
- Erratum issued
Authors and funding
8 authors at 2 institutions in 2 countries.
Funding
Abstract
Studying the plasma proteome as the intermediate layer between the genome and the phenome has the potential to identify new disease processes. Here, we conducted a cis-focused proteogenomic analysis of 2,923 plasma proteins measured in 1,180 individuals using antibody-based assays. We (1) identify 256 unreported protein quantitative trait loci (pQTL); (2) demonstrate shared genetic regulation of 224 cis-pQTLs with 575 specific health outcomes, revealing examples for notable metabolic diseases (such as gastrin-releasing peptide as a potential therapeutic target for type 2 diabetes); (3) improve causal gene assignment at 40% (n = 192) of overlapping risk loci; and (4) observe convergence of phenotypic consequences of cis-pQTLs and rare loss-of-function gene burden for 12 proteins, such as TIMD4 for lipoprotein metabolism. Our findings demonstrate the value of integrating complementary proteomic technologies with genomics even at moderate scale to identify new mediators of metabolic diseases with the potential for therapeutic interventions.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.