ArticleHuman molecular genetics2022
Transcriptome-wide association study in UK Biobank Europeans identifies associations with blood cell traits.
Article in Human molecular genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed.
- Genetic drivers of protein changes over time: Findings, considerations, and approaches in TOPMed cohorts and UK Biobank.bioRxiv : the preprint server for biology · 2026Article
- Genetic influences on haematopoiesis.Nature reviews. Genetics · 2026Review
- scTWAS: a powerful statistical framework for single-cell transcriptome-wide association studies.Nature communications · 2026Article
- Association between neutrophil to lymphocyte ratio and Alzheimer's disease in large biobank cohorts.Journal of Alzheimer's disease : JAD · 2025Article
- scTWAS: A powerful statistical framework for single-cell transcriptome-wide association studies.Research square · 2025Article
- Improved multiancestry fine-mapping identifies cis-regulatory variants underlying molecular traits and disease risk.Nature genetics · 2025Article
- EndoPRS: Incorporating endophenotype information to improve polygenic risk scores for clinical endpoints-A study in asthma.American journal of human genetics · 2025Article
- Secondary integrated analysis of multi-tissue transcriptomic responses to a combined lifestyle intervention in older adults from the GOTO nonrandomized trial.Nature communications · 2024Article
- Adopting Mechanistic Molecular Biology Approaches in Exposome Research for Causal Understanding.Environmental science & technology · 2024Review
- Improved multi-ancestry fine-mapping identifiesmedRxiv : the preprint server for health sciences · 2024Article
- Trans-eQTL mapping in gene sets identifies network effects of genetic variants.Cell genomics · 2024Article
- TWAS revealed significant causal loci for milk production and its composition in Murrah buffaloes.Scientific reports · 2023Article
- Discovery of target genes and pathways at GWAS loci by pooled single-cell CRISPR screens.Science (New York, N.Y.) · 2023Article
- Understanding the function of regulatory DNA interactions in the interpretation of non-coding GWAS variants.Frontiers in cell and developmental biology · 2022Review
Corrections and comments
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Authors and funding
18 authors.
Funding
Abstract
Previous genome-wide association studies (GWAS) of hematological traits have identified over 10 000 distinct trait-specific risk loci. However, at these loci, the underlying causal mechanisms remain incompletely characterized. To elucidate novel biology and better understand causal mechanisms at known loci, we performed a transcriptome-wide association study (TWAS) of 29 hematological traits in 399 835 UK Biobank (UKB) participants of European ancestry using gene expression prediction models trained from whole blood RNA-seq data in 922 individuals. We discovered 557 gene-trait associations for hematological traits distinct from previously reported GWAS variants in European populations. Among the 557 associations, 301 were available for replication in a cohort of 141 286 participants of European ancestry from the Million Veteran Program. Of these 301 associations, 108 replicated at a strict Bonferroni adjusted threshold ($\alpha$= 0.05/301). Using our TWAS results, we systematically assigned 4261 out of 16 900 previously identified hematological trait GWAS variants to putative target genes. Compared to coloc, our TWAS results show reduced specificity and increased sensitivity in external datasets to assign variants to target genes.
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