| Title: | Recent advances in experimental functional characterization of GWAS candidate genes in osteoporosis |
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| Authors: | ID Malavašič, Petra (Author)
ID Lojk, Jasna (Author)
ID Lovšin, Nika (Author)
ID Marc, Janja (Author) |
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| Files: |  PDF - Presentation file, download (2,05 MB)
MD5: FF506DF4B39486FFAF433FA5A633C53B
 URL - Source URL, visit https://www.mdpi.com/1422-0067/26/15/7237
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| Language: | English |
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| Typology: | 1.02 - Review Article |
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| Organization: |  UKC LJ - Ljubljana University Medical Centre
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| Abstract: | Osteoporosis is a multifactorial, polygenic disease characterized by reduced bone mineral density (BMD) and increased fracture risk. Genome-wide association studies (GWASs) have identified numerous loci associated with BMD and/or bone fractures, but functional characterization of these target genes is essential to understand the biological mechanisms underlying osteoporosis. This review focuses on current methodologies and key examples of successful functional studies aimed at evaluating gene function in osteoporosis research. Functional evaluation typically follows a multi-step approach. In silico analyses using omics datasets expression quantitative trait loci (eQTLs), protein quantitative trait loci (pQTLs), and DNA methylation quantitative trait loci (mQTLs) help prioritize candidate genes and predict relevant biological pathways. In vitro models, including immortalized bone-derived cell lines and primary mesenchymal stem cells (MSCs), are used to explore gene function in osteogenesis. Advanced three-dimensional culture systems provide additional physiological relevance for studying bone-related cellular processes. In situ analyses of patient-derived bone and muscle tissues offer validation in a disease-relevant context, while in vivo studies using mouse and zebrafish models enable comprehensive assessment of gene function in skeletal development and maintenance. Integration of these complementary methodologies helps translate GWAS findings into biological insights and supports the identification of novel therapeutic targets for osteoporosis. |
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| Keywords: | in silico analyses, omics, MSC, human bone tissue gene expression, gene knockdown |
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| Publication status: | Published |
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| Publication version: | Version of Record |
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| Year of publishing: | 2025 |
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| Number of pages: | str. 1-25 |
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| Numbering: | Vol. 26, iss. 14, [article no.] 7237 |
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| PID: | 20.500.12556/DiRROS-29135  |
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| UDC: | 602.64:616.71-007.234 |
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| ISSN on article: | 1422-0067 |
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| DOI: | 10.3390/ijms26157237 |
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| COBISS.SI-ID: | 245733379 |
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| Note: | Nasl. z nasl. zaslona;
Opis vira z dne 18. 8. 2025;
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| Publication date in DiRROS: | 22.04.2026 |
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| Views: | 164 |
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| Downloads: | 101 |
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