ArticleAmerican journal of human genetics2014
Identification and validation of genetic variants that influence transcription factor and cell signaling protein levels.
Article in American journal of human genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
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
28 citing papers in PubMed, 1 synthesis or guideline pooled it, 48 citations in OpenAlex.
- Common Genetic Polymorphisms Influence Blood Biomarker Measurements in COPD.PLoS genetics · 2016Pooled it
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- Genome-wide transcript and protein analysis highlights the role of protein homeostasis in the aging mouse heart.Genome research · 2022Article
- Tissue-specific multi-omics analysis of atrial fibrillation.Nature communications · 2022Article
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- Genetic regulation of methylation in human endometrium and blood and gene targets for reproductive diseases.Clinical epigenetics · 2019Article
- Identifying Multi-Omics Causers and Causal Pathways for Complex Traits.Frontiers in genetics · 2019Article
- Comprehensive Cis-Regulation Analysis of Genetic Variants in Human Lymphoblastoid Cell Lines.Frontiers in genetics · 2019Article
- Genome-wide mapping of plasma protein QTLs identifies putatively causal genes and pathways for cardiovascular disease.Nature communications · 2018Article
- Aminoacyl-tRNA synthetases, therapeutic targets for infectious diseases.Biochemical pharmacology · 2018Review
- The Post-GWAS Era: From Association to Function.American journal of human genetics · 2018Review
- Chromosome conformation signatures define predictive markers of inadequate response to methotrexate in early rheumatoid arthritis.Journal of translational medicine · 2018Article
- Enhancing GTEx by bridging the gaps between genotype, gene expression, and disease.Nature genetics · 2017Article
- Multi-omics approaches to disease.Genome biology · 2017Review
- Mapping of 79 loci for 83 plasma protein biomarkers in cardiovascular disease.PLoS genetics · 2017Observational
- Genetic Variants Contributing to Colistin Cytotoxicity: Identification of TGIF1 and HOXD10 Using a Population Genomics Approach.International journal of molecular sciences · 2017Article
- Connecting genetic risk to disease end points through the human blood plasma proteome.Nature communications · 2017Article
- Computational discovery of transcription factors associated with drug response.The pharmacogenomics journal · 2016Article
- Autoimmune diseases - connecting risk alleles with molecular traits of the immune system.Nature reviews. Genetics · 2016Review
- Unravelling the human genome-phenome relationship using phenome-wide association studies.Nature reviews. Genetics · 2016Review
Corrections and comments
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Authors and funding
13 authors at 2 institutions in 1 country.
Funding
Abstract
Many genetic variants associated with human disease have been found to be associated with alterations in mRNA expression. Although it is commonly assumed that mRNA expression changes will lead to consequent changes in protein levels, methodological challenges have limited our ability to test the degree to which this assumption holds true. Here, we further developed the micro-western array approach and globally examined relationships between human genetic variation and cellular protein levels. We collected more than 250,000 protein level measurements comprising 441 transcription factor and signaling protein isoforms across 68 Yoruba (YRI) HapMap lymphoblastoid cell lines (LCLs) and identified 12 cis and 160 trans protein level QTLs (pQTLs) at a false discovery rate (FDR) of 20%. Whereas up to two thirds of cis mRNA expression QTLs (eQTLs) were also pQTLs, many pQTLs were not associated with mRNA expression. Notably, we replicated and functionally validated a trans pQTL relationship between the KARS lysyl-tRNA synthetase locus and levels of the DIDO1 protein. This study demonstrates proof of concept in applying an antibody-based microarray approach to iteratively measure the levels of human proteins and relate these levels to human genome variation and other genomic data sets. Our results suggest that protein-based mechanisms might functionally buffer genetic alterations that influence mRNA expression levels and that pQTLs might contribute phenotypic diversity to a human population independently of influences on mRNA expression.
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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.