ArticleeLife2022
Transcriptome-wide association study and eQTL colocalization identify potentially causal genes responsible for human bone mineral density GWAS associations.
Article in eLife, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers, 1 of them a synthesis that pooled it.
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Who cites it
33 citing papers in PubMed, 1 synthesis or guideline pooled it, 43 citations in OpenAlex.
- Brain transcriptome-wide association studies in diverse ancestral populations reveal genes implicated in an anxiety-related phenotype.G3 (Bethesda, Md.) · 2026Pooled it
- Multiscale analysis and functional validation of the cellular and genetic determinants of skeletal disease.Nature genetics · 2026Article
- Causal genes for osteoporosis: Mendelian randomization analysis with multilayer xQTL data.Medicine · 2026Article
- Multiscale analysis and functional validation of the cellular and genetic determinants of skeletal disease.bioRxiv : the preprint server for biology · 2026Article
- PHEWAS, TWAS, Mendelian Randomization in Osteoporosis Research: the good, the bad, and the ugly.Current osteoporosis reports · 2026Review
- Multi-ancestry transcriptome prediction with functionally informed variants in TOPMed MESA improves performance of transcriptome-wide association studies.American journal of human genetics · 2026Article
- Methods for Prioritizing Causal Genes in Molecular Studies of Human Disease: The State of the Art.Genetic epidemiology · 2026Review
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- Transcriptome-wide association studies at cell-state level using single-cell eQTL data.Cell genomics · 2026Article
- GENEasso: a curated resource of credible disease-gene associations across complex diseases from GWAS summary statistics.Nucleic acids research · 2026Article
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- Investigating the relationship between osteoporosis and rheumatoid arthritis: prospective cohort study and genetic analyses.Therapeutic advances in musculoskeletal disease · 2026Article
- Integrative analysis reveals synergistic regulation of Sp7 by BRD9 and Wnt/β-catenin signaling during osteogenic differentiation.Communications biology · 2025Article
- Genomic structural equation modeling decodes skeletal aging: novel loci discovery and multisystem genetic crosstalk.Journal of translational medicine · 2025Article
- Recent Advances in Experimental Functional Characterization of GWAS Candidate Genes in Osteoporosis.International journal of molecular sciences · 2025Review
- Single-cell transcriptome-wide Mendelian randomization and colocalization analyses uncover cell-specific mechanisms in atherosclerotic cardiovascular disease.American journal of human genetics · 2025Article
- An integrative approach to prioritize candidate causal genes for complex traits in cattle.PLoS genetics · 2025Article
- Development of Polyclonal Antibodies for the Preliminary Characterization of GPATCH1, a Novel Splicing Factor Associated with Human Osteoporosis.Applied biochemistry and biotechnology · 2025Article
- Identification and validation of novel risk genes for intervertebral disc disorder by integrating large-scale multi-omics analyses and experimental studies.Frontiers in medicine · 2025Article
- The goldmine of GWAS summary statistics: a systematic review of methods and tools.BioData mining · 2024Article
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Authors and funding
16 authors at 5 institutions in 1 country.
Funding
Abstract
Genome-wide association studies (GWASs) for bone mineral density (BMD) in humans have identified over 1100 associations to date. However, identifying causal genes implicated by such studies has been challenging. Recent advances in the development of transcriptome reference datasets and computational approaches such as transcriptome-wide association studies (TWASs) and expression quantitative trait loci (eQTL) colocalization have proven to be informative in identifying putatively causal genes underlying GWAS associations. Here, we used TWAS/eQTL colocalization in conjunction with transcriptomic data from the Genotype-Tissue Expression (GTEx) project to identify potentially causal genes for the largest BMD GWAS performed to date. Using this approach, we identified 512 genes as significant using both TWAS and eQTL colocalization. This set of genes was enriched for regulators of BMD and members of bone relevant biological processes. To investigate the significance of our findings, we selected
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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.