ArticleScientific reports2016
Integrating Epigenomic Elements and GWASs Identifies BDNF Gene Affecting Bone Mineral Density and Osteoporotic Fracture Risk.
Article in Scientific reports, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 39 citations in OpenAlex.
- The investigation of molecular mechanisms influencing variations of sternum calcification in ducks by integrating transcriptomic and metabolomic analyses.Poultry science · 2026Article
- Genetic regulation of platelet-derived BDNF by rs11030119: discrepancy between circulating levels and hemostatic function.Genes and immunity · 2026Article
- GWAS-informed data integration and non-coding CRISPRi screen illuminate genetic etiology of bone mineral density.Genome biology · 2025Article
- Genetics and Vitamin D Interactions in Osteoporosis: A Path to Precision Medicine.Journal of cellular and molecular medicine · 2025Review
- Targeting the central and peripheral nervous system to regulate bone homeostasis: mechanisms and potential therapies.Military Medical Research · 2025Review
- SATB2 promotes humeral fracture healing in rats by activating the PI3K/AKT pathway.Open life sciences · 2025Article
- GWAS-Informed data integration and non-coding CRISPRi screen illuminate genetic etiology of bone mineral density.bioRxiv : the preprint server for biology · 2024Article
- SATB2-associated syndrome: characterization of skeletal features and of bone fragility in a prospective cohort of 19 patients.Orphanet journal of rare diseases · 2022Article
- Bone mineral density in high-level endurance runners: Part B-genotype-dependent characteristics.European journal of applied physiology · 2022Article
- Multiomics dissection of molecular regulatory mechanisms underlying autoimmune-associated noncoding SNPs.JCI insight · 2020Article
- Fusion Potential of Human Osteoclasts In Vitro Reflects Age, Menopause, and In Vivo Bone Resorption Levels of Their Donors-A Possible Involvement of DC-STAMP.International journal of molecular sciences · 2020Article
- A road map for understanding molecular and genetic determinants of osteoporosis.Nature reviews. Endocrinology · 2020Review
- Aging and menopause reprogram osteoclast precursors for aggressive bone resorption.Bone research · 2020Article
- Article
- Addressing the Missing Heritability Problem With the Help of Regulatory Features.Evolutionary bioinformatics online · 2019Article
- Ageing: Is there a role for arachidonic acid and other bioactive lipids? A review.Journal of advanced research · 2018Review
- Article
- Regulatory element-based prediction identifies new susceptibility regulatory variants for osteoporosis.Human genetics · 2017Article
- Identification of the gene-regulatory landscape in skeletal development and potential links to skeletal regeneration.Regenerative therapy · 2017Review
- Epigenomic data facilitate genetic studies for osteoporosis in post-GWAS era.Annals of translational medicine · 2017Article
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Authors and funding
12 authors at 3 institutions in 2 countries.
Funding
Abstract
To identify susceptibility genes for osteoporosis, we conducted an integrative analysis that combined epigenomic elements and previous genome-wide association studies (GWASs) data, followed by validation at population and functional levels, which could identify common regulatory elements and predict new susceptibility genes that are biologically meaningful to osteoporosis. By this approach, we found a set of distinct epigenomic elements significantly enriched or depleted in the promoters of osteoporosis-associated genes, including 4 transcription factor binding sites, 27 histone marks, and 21 chromatin states segmentation types. Using these epigenomic marks, we performed reverse prediction analysis to prioritize the discovery of new candidate genes. Functional enrichment analysis of all the prioritized genes revealed several key osteoporosis related pathways, including Wnt signaling. Genes with high priority were further subjected to validation using available GWASs datasets. Three genes were significantly associated with spine bone mineral density, including BDNF, PDE4D, and SATB2, which all closely related to bone metabolism. The most significant gene BDNF was also associated with osteoporotic fractures. RNA interference revealed that BDNF knockdown can suppress osteoblast differentiation. Our results demonstrated that epigenomic data could be used to indicate common epigenomic marks to discover additional loci with biological functions for osteoporosis.
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