ArticleBlood2021
Transcriptional profile of platelets and iPSC-derived megakaryocytes from whole-genome and RNA sequencing.
Article in Blood, 2021. 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.
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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.
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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
28 citing papers in PubMed, 1 synthesis or guideline pooled it, 34 citations in OpenAlex.
- Genetic variants associated with platelet count are predictive of human disease and physiological markers.Communications biology · 2021Pooled it
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- Human genetics implicate thromboembolism in the pathogenesis of long COVID in individuals of European ancestry.Nature cardiovascular research · 2025Article
- Selective chr21 homolog silencing reveals polymorphisms influence the epigenetic silencing and functional dosage of RWDD2B.bioRxiv : the preprint server for biology · 2025Article
- Circulating chromatin reveals the effects of disease-associated variants on gene regulation.bioRxiv : the preprint server for biology · 2025Article
- Ubiquitous dysregulation of the Wnt pathway in immune thrombocytopenia genetic susceptibility.Blood vessels, thrombosis & hemostasis · 2025Article
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- The interferon-rich skin environment regulates Langerhans cell ADAM17 to promote photosensitivity in lupus.eLife · 2024Article
- Megakaryocyte-induced contraction of plasma clots: cellular mechanisms and structural mechanobiology.Blood · 2024Article
- Sources of variability in the human platelet transcriptome.Thrombosis research · 2023Review
- RepID represses megakaryocytic differentiation by recruiting CRL4A-JARID1A at DAB2 promoter.Cell communication and signaling : CCS · 2023Article
- RepID represses megakaryocytic differentiation by recruiting CRL4A-JARID1A at DAB2 promoter.Research square · 2023Article
- Natural variation in gene expression and viral susceptibility revealed by neural progenitor cell villages.Cell stem cell · 2023Article
- The shared genetic landscape of blood cell traits and risk of neurological and psychiatric disorders.Cell genomics · 2023Article
- Whole genome sequencing identifies structural variants contributing to hematologic traits in the NHLBI TOPMed program.Nature communications · 2022Article
- Non-coding genetic variation in regulatory elements determines thrombosis and hemostasis phenotypes.Journal of thrombosis and haemostasis : JTH · 2022Review
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Authors and funding
15 authors at 2 institutions in 1 country.
Funding
Abstract
Genome-wide association studies have identified common variants associated with platelet-related phenotypes, but because these variants are largely intronic or intergenic, their link to platelet biology is unclear. In 290 normal subjects from the GeneSTAR Research Study (110 African Americans [AAs] and 180 European Americans [EAs]), we generated whole-genome sequence data from whole blood and RNA sequence data from extracted nonribosomal RNA from 185 induced pluripotent stem cell-derived megakaryocyte (MK) cell lines (platelet precursor cells) and 290 blood platelet samples from these subjects. Using eigenMT software to select the peak single-nucleotide polymorphism (SNP) for each expressed gene, and meta-analyzing the results of AAs and EAs, we identify (q-value < 0.05) 946 cis-expression quantitative trait loci (eQTLs) in derived MKs and 1830 cis-eQTLs in blood platelets. Among the 57 eQTLs shared between the 2 tissues, the estimated directions of effect are very consistent (98.2% concordance). A high proportion of detected cis-eQTLs (74.9% in MKs and 84.3% in platelets) are unique to MKs and platelets compared with peak-associated SNP-expressed gene pairs of 48 other tissue types that are reported in version V7 of the Genotype-Tissue Expression Project. The locations of our identified eQTLs are significantly enriched for overlap with several annotation tracks highlighting genomic regions with specific functionality in MKs, including MK-specific DNAse hotspots, H3K27-acetylation marks, H3K4-methylation marks, enhancers, and superenhancers. These results offer insights into the regulatory signature of MKs and platelets, with significant overlap in genes expressed, eQTLs detected, and enrichment within known superenhancers relevant to platelet biology.
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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.