ArticleHuman molecular genetics2012
Identification of cis-regulatory variation influencing protein abundance levels in human plasma.
Article in Human molecular genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 58 papers, 3 of them syntheses that pooled it.
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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
58 citing papers in PubMed, 3 syntheses or guidelines pooled it.
- Common Genetic Polymorphisms Influence Blood Biomarker Measurements in COPD.PLoS genetics · 2016Pooled it
- Genetic analysis of quantitative phenotypes in AD and MCI: imaging, cognition and biomarkers.Brain imaging and behavior · 2014Pooled it
- CD33: increased inclusion of exon 2 implicates the Ig V-set domain in Alzheimer's disease susceptibility.Human molecular genetics · 2014Pooled it
- Co-occurring expression and methylation QTLs allow detection of common causal variants and shared biological mechanisms.Nature communications · 2018Trial
- Identification of genetic variants influencing the human plasma proteome.Proceedings of the National Academy of Sciences of the United States of America · 2013Trial
- Complex genetic effects linked to plasma protein abundance in the UK Biobank.Nature communications · 2025Article
- A genome-wide association study of mass spectrometry proteomics using a nanoparticle enrichment platform.Nature genetics · 2025Article
- Association of CD33 genetic variants with neurocognitive profiles in chronic viral hepatitis.BJPsych open · 2025Article
- Crossing the Halfway Point: Aptamer-Based, Highly Multiplexed Assay for the Assessment of the Proteome.Journal of proteome research · 2024Review
- Protein-metabolite association studies identify novel proteomic determinants of metabolite levels in human plasma.Cell metabolism · 2023Article
- Genetics of circulating inflammatory proteins identifies drivers of immune-mediated disease risk and therapeutic targets.Nature immunology · 2023Article
- Proteomic biomarkers of Kleine-Levin syndrome.Sleep · 2022Article
- Genetic Profile of Endotoxemia Reveals an Association With Thromboembolism and Stroke.Journal of the American Heart Association · 2021Article
- Genomic atlas of the proteome from brain, CSF and plasma prioritizes proteins implicated in neurological disorders.Nature neuroscience · 2021Article
- Revealing the role of the human blood plasma proteome in obesity using genetic drivers.Nature communications · 2021Article
- Cerebrospinal fluid metabolomics identifies 19 brain-related phenotype associations.Communications biology · 2021Article
- ANMerge: A Comprehensive and Accessible Alzheimer's Disease Patient-Level Dataset.Journal of Alzheimer's disease : JAD · 2021Article
- Association ofFrontiers in cardiovascular medicine · 2021Article
- Genetics meets proteomics: perspectives for large population-based studies.Nature reviews. Genetics · 2021Review
- Proteomic biomarkers of sleep apnea.Sleep · 2020Article
Corrections and comments
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Authors and funding
18 authors.
Funding
Abstract
Proteins are central to almost all cellular processes, and dysregulation of expression and function is associated with a range of disorders. A number of studies in human have recently shown that genetic factors significantly contribute gene expression variation. In contrast, very little is known about the genetic basis of variation in protein abundance in man. Here, we assayed the abundance levels of proteins in plasma from 96 elderly Europeans using a new aptamer-based proteomic technology and performed genome-wide local (cis-) regulatory association analysis to identify protein quantitative trait loci (pQTL). We detected robust cis-associations for 60 proteins at a false discovery rate of 5%. The most highly significant single nucleotide polymorphism detected was rs7021589 (false discovery rate, 2.5 × 10(-12)), mapped within the gene coding sequence of Tenascin C (TNC). Importantly, we identified evidence of cis-regulatory variation for 20 previously disease-associated genes encoding protein, including variants with strong evidence of disease association show significant association with protein abundance levels. These results demonstrate that common genetic variants contribute to the differences in protein abundance levels in human plasma. Identification of pQTLs will significantly enhance our ability to discover and comprehend the biological and functional consequences of loci identified from genome-wide association study of complex traits. This is the first large-scale genetic association study of proteins in plasma measured using a novel, highly multiplexed slow off-rate modified aptamer (SOMAmer) proteomic platform.
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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.