ArticleThe Journal of clinical endocrinology and metabolism2020
Gene Expression and RNA Splicing Imputation Identifies Novel Candidate Genes Associated with Osteoporosis.
Article in The Journal of clinical endocrinology and metabolism, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
What it found
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Who cites it
16 citing papers in PubMed, 20 citations in OpenAlex.
- Exploring the Shared Genetic Basis of Age at Menopause and Osteoarthritis.ACR open rheumatology · 2026Article
- PHEWAS, TWAS, Mendelian Randomization in Osteoporosis Research: the good, the bad, and the ugly.Current osteoporosis reports · 2026Review
- Article
- Genetically regulated eRNA expression predicts chromatin contact frequency and reveals genetic mechanisms at GWAS loci.Nature communications · 2025Article
- Association of certain biochemical parameters related to bone cycle with genotype in MPS IIIB patients.Turkish journal of medical sciences · 2025Article
- Alternative Splicing: A Critical Regulator in Human Bone Biology and Tumor Progression.Research (Washington, D.C.) · 2025Review
- RNA splicing in bone diseases: mechanisms, pathogenesis and therapeutics.Acta biochimica Polonica · 2025Review
- Pan-cancer analysis identifies DBF4B as an immunologic and prognostic biomarker.Journal of Cancer · 2025Article
- Targeting ketone body metabolism in mitigating gemcitabine resistance.JCI insight · 2024Article
- Multi-scale variational autoencoder for imputation of missing values in untargeted metabolomics using whole-genome sequencing data.Computers in biology and medicine · 2024Article
- RNA alternative splicing impacts the risk for alcohol use disorder.Molecular psychiatry · 2023Article
- Wnt16 signaling in bone homeostasis and osteoarthristis.Frontiers in endocrinology · 2022Review
- A transcriptome-wide association study to detect novel genes for volumetric bone mineral density.Bone · 2021Article
- Using "-omics" Data to Inform Genome-wide Association Studies (GWASs) in the Osteoporosis Field.Current osteoporosis reports · 2021Review
- Article
- UBE2E3 regulates cellular senescence and osteogenic differentiation of BMSCs during aging.PeerJ · 2021Article
Corrections and comments
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Authors and funding
11 authors at 2 institutions in 2 countries.
Funding
Abstract
contextThough genome-wide association studies (GWASs) have identified hundreds of genetic variants associated with osteoporosis related traits, such as bone mineral density (BMD) and fracture, it remains a challenge to interpret their biological functions and underlying biological mechanisms.
objectiveIntegrate diverse expression quantitative trait loci and splicing quantitative trait loci data with several powerful GWAS datasets to identify novel candidate genes associated with osteoporosis. DESIGN, SETTING, AND
participantsHere, we conducted a transcriptome-wide association study (TWAS) for total body BMD (TB-BMD) (n = 66 628 for discovery and 7697 for validation) and fracture (53 184 fracture cases and 373 611 controls for discovery and 37 857 cases and 227 116 controls for validation), respectively. We also conducted multi-SNP-based summarized mendelian randomization analysis to further validate our findings.
resultsIn total, we detected 88 genes significantly associated with TB-BMD or fracture through expression or ribonucleic acid splicing. Summarized mendelian randomization analysis revealed that 78 of the significant genes may have potential causal effects on TB-BMD or fracture in at least 1 specific tissue. Among them, 64 genes have been reported in previous GWASs or TWASs for osteoporosis, such as ING3, CPED1, and WNT16, as well as 14 novel genes, such as DBF4B, GRN, TMUB2, and UNC93B1.
conclusionsOverall, our findings provide novel insights into the pathogenesis mechanisms of osteoporosis and highlight the power of a TWAS to identify and prioritize potential causal genes.
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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 Socratic graph.