ArticleFrontiers in cell and developmental biology2020
Comprehensive Analysis of the Genetic and Epigenetic Mechanisms of Osteoporosis and Bone Mineral Density.
Article in Frontiers in cell and developmental biology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed.
- Objectively measured sleep parameters and bone health: results from the Human Phenotype Project (HPP) cohort.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2026Article
- GWAS-informed data integration and non-coding CRISPRi screen illuminate genetic etiology of bone mineral density.Genome biology · 2025Article
- Sex differences in physical activity dose-response effects on site-specific bone mineral density during childhood and adolescence.Scientific reports · 2025Article
- G-protein coupled receptors synergy in bone health: new avenues for osteoporosis detection andFrontiers in endocrinology · 2025Review
- GWAS-Informed data integration and non-coding CRISPRi screen illuminate genetic etiology of bone mineral density.bioRxiv : the preprint server for biology · 2024Article
- In-silico analysis predicts disruption of normal angiogenesis as a causative factor in osteoporosis pathogenesis.BMC genomic data · 2024Article
- Dairy product consumption, eating habits, sedentary behaviour and physical activity association with bone mineral density among adolescent boys: a cross-sectional observational study.BMC pediatrics · 2024Observational
- Multitrait GWAS to connect disease variants and biological mechanisms.PLoS genetics · 2021Article
- The Polymorphism at PLCB4 Promoter (rs6086746) Changes the Binding Affinity of RUNX2 and Affects Osteoporosis Susceptibility: An Analysis of Bioinformatics-Based Case-Control Study and Functional Validation.Frontiers in endocrinology · 2021Article
- Bone Mineral Density in Adolescent Boys: Cross-Sectional Observational Study.International journal of environmental research and public health · 2020Observational
- Helicobacter pylori Related Diseases and Osteoporotic Fractures (Narrative Review).Journal of clinical medicine · 2020Review
Corrections and comments
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Authors and funding
11 authors.
Funding
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Abstract
Osteoporosis is a skeletal disorder characterized by a systemic impairment of bone mineral density (BMD). Genome-wide association studies (GWAS) have identified hundreds of susceptibility loci for osteoporosis and BMD. However, the vast majority of susceptibility loci are located in non-coding regions of the genome and provide limited information about the genetic mechanisms of osteoporosis. Herein we performed a comprehensive functional analysis to investigate the genetic and epigenetic mechanisms of osteoporosis and BMD. BMD and osteoporosis are found to share many common susceptibility loci, and the corresponding susceptibility genes are significantly enriched in bone-related biological pathways. The regulatory element enrichment analysis indicated that BMD and osteoporosis susceptibility loci are significantly enriched in 5'UTR and DNase I hypersensitive sites (DHSs) of peripheral blood immune cells. By integrating GWAS and expression Quantitative Trait Locus (eQTL) data, we found that 15 protein-coding genes are regulated by the osteoporosis and BMD susceptibility loci. Our analysis provides new clues for a better understanding of the pathogenic mechanisms and offers potential therapeutic targets for osteoporosis.
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