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Key Genetic Determinants of Osteoporosis: From Bench to Bedside
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Key Genetic Determinants of Osteoporosis: From Bench to Bedside

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Molecular Genetics and Genomics".

Deadline for manuscript submissions: closed (15 January 2023) | Viewed by 22583

Special Issue Editors

Prof. Dr. Umberto Tarantino

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Guest Editor
Department of Orthopaedics and Traumatology Policlinico Tor Vergata Foundation, University of Rome Tor Vergata, Rome, Italy
Interests: osteoporosis; bone metabolism; fracture healing; osteoarthritis; age related-bone disorders
Special Issues, Collections and Topics in MDPI journals
Dr. Rita Bonfiglio

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Guest Editor
Department of Experimental Medicine, University of Rome Tor Vergata, Rome 00133, Italy
Interests: oncology; breast cancer; molecular pathology; mouse models; theragnostics
Special Issues, Collections and Topics in MDPI journals
Dr. Ida Cariati

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Guest Editor
Department of Systems Medicine, University of Rome “Tor Vergata”, 00133 Rome, Italy
Interests: exercise; aging; whole body vibration; musculoskeletal diseases; osteoporosis; sarcopenia; neurodegeneration; quality of life; microgravity
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Osteoporosis is a skeletal condition characterized by decreased bone mineral density and poor bone quality, with an increased risk of fracture. Due to its multifactorial nature, environmental factors along with genetic variants and epigenetic mechanisms have been implicated. An important aim of future work will be to better elucidate the pathogenesis of this complex disease. Indeed, it is highly clinically relevant to individuate patients at greater risk of osteoporosis to develop personalized preventative therapeutic strategies to be employed before fractures have occurred. Thus, greater efforts are required to understand how the genes which regulate bone mass, bone turnover, and other aspects of bone metabolism interact with each other and with environmental variables to cause osteoporosis in individual patients. This Special Issue in Genes on “Key Genetic Determinants of Osteoporosis: From Bench to Bedside” will address the pathogenesis of osteoporosis, providing an overview of the complex interaction existing among genetic determinants, epigenetic mechanisms, and environmental factors in the light of recent developments as well as critical perspectives on upcoming challenges.

Prof. Dr. Umberto Tarantino
Dr. Rita Bonfiglio
Dr. Ida Cariati
Guest Editors

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Keywords

  • osteoporosis-related genes
  • epigenetic factors in bone homeostasis and metabolism
  • osteoporosis risk: interaction among genetic susceptibility, environmental factors, and human lifestyle
  • osteoporosis-related biomarkers
  • in vitro and pre-clinical investigations
  • miRNA and lncRNA

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Published Papers (6 papers)

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Research

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12 pages, 1273 KiB  
Article
Role of the Vitamin D Receptor (VDR) in the Pathogenesis of Osteoporosis: A Genetic, Epigenetic and Molecular Pilot Study
by Beatrice Gasperini, Virginia Veronica Visconti, Cinzia Ciccacci, Angela Falvino, Elena Gasbarra, Riccardo Iundusi, Maria Luisa Brandi, Annalisa Botta and Umberto Tarantino
Genes 2023, 14(3), 542; https://doi.org/10.3390/genes14030542 - 21 Feb 2023
Cited by 8 | Viewed by 2396
Abstract
The vitamin D receptor (VDR) regulates bone development and calcium homeostasis, suggesting a central role in musculoskeletal diseases such as osteoporosis (OP). Several studies have examined the contribution of VDR polymorphisms and epigenetic signatures in bone metabolism and OP risk, with sometimes inconclusive [...] Read more.
The vitamin D receptor (VDR) regulates bone development and calcium homeostasis, suggesting a central role in musculoskeletal diseases such as osteoporosis (OP). Several studies have examined the contribution of VDR polymorphisms and epigenetic signatures in bone metabolism and OP risk, with sometimes inconclusive results. Our study aimed to explore the association between genetic variability, expression and the methylation pattern of VDR with the risk of OP in a cohort of Caucasian patients. Genomic DNA from 139 OP, 54 osteopenic (Ope) and 73 healthy (CTR) subjects were used for genotyping the rs731236 (TaqI), rs2228570 (FokI) and rs11568820 (Cdx2) polymorphisms of the VDR gene by an allelic discrimination assay. Quantitative real-time polymerase chain reaction (qRT-PCR) analysis of VDR expression levels and pyrosequencing analysis of a VDR promoter CpG island were carried out in a subcohort (25 OP and 25 CTR) of subjects. Data obtained showed a significantly higher OP risk for rs11568820 G/A and A/A genotypes (p = 0.05). qRT-PCR revealed lower VDR gene expression levels in the OP group compared to CTR subjects (p = 0.0009), also associated with both the rs11568820 A/A genotype (p = 0.03) and femoral fragility fractures (p = 0.05). No association was found between the methylation pattern of the region analyzed of the VDR promoter and its expression levels. Our results identify a significative association between Cdx2 rs11568820 polymorphism and OP risk. In addition, the VDR transcriptomic profile suggests a putative interconnection with OP progression, providing a useful tool to stratify OP phenotype and fragility fracture risk. Full article
(This article belongs to the Special Issue Key Genetic Determinants of Osteoporosis: From Bench to Bedside)
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10 pages, 1300 KiB  
Article
Deregulated Clusterin as a Marker of Bone Fragility: New Insights into the Pathophysiology of Osteoporosis
by Virginia Veronica Visconti, Chiara Greggi, Ida Cariati, Beatrice Gasperini, Ambra Mastrogregori, Annalisa Botta and Umberto Tarantino
Genes 2022, 13(4), 652; https://doi.org/10.3390/genes13040652 - 7 Apr 2022
Cited by 4 | Viewed by 2490
Abstract
Clusterin (CLU) is a secreted heterodimeric glycoprotein expressed in all organism fluids as well as in the intracellular matrix that plays key roles in several pathological processes. Its recent involvement in muscle degeneration of osteoporotic patients led to investigation of the role of [...] Read more.
Clusterin (CLU) is a secreted heterodimeric glycoprotein expressed in all organism fluids as well as in the intracellular matrix that plays key roles in several pathological processes. Its recent involvement in muscle degeneration of osteoporotic patients led to investigation of the role of CLU in bone metabolism, given the biochemical and biomechanical crosstalk of the bone–muscle unit. Quantitative real time-polymerase chain reaction (qRT-PCR) analysis of CLU expression was performed in both osteoblasts and Peripheral Blood Mononuclear Cells (PBMCs) from osteoporotic patients (OP) and healthy individuals (CTR). Furthermore, immunohistochemical analysis on femoral head tissues and enzyme-linked immunosorbent assay (ELISA) in plasma samples were performed to investigate CLU expression pattern. Finally, genotyping of CLU rs11136000 polymorphism has also been performed by qRT-PCR assays to explore a possible association with CLU expression levels. Data obtained showed a significantly increased expression level of secreted CLU isoform in PBMCs and osteoblasts from OP patients. Immunohistochemical analysis confirms the increased expression of CLU in OP patients, both in osteocytes and osteoblasts, while plasma analysis reveals a statistically significant decrease of CLU levels. Unfortunately, no functional association between CLU expression levels and the presence of CLU rs11136000 polymorphism in OP patients was found. These data suggest a potential role played by CLU as a potential biomarker for the diagnosis and prognosis of OP progression. Full article
(This article belongs to the Special Issue Key Genetic Determinants of Osteoporosis: From Bench to Bedside)
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12 pages, 547 KiB  
Article
Association of TGF-β1 and IL-10 Gene Polymorphisms with Osteoporosis in a Study of Taiwanese Osteoporotic Patients
by Min-Yu Tu, Kuei-Yang Han, Ying-Wei Lan, Ku-Yi Chang, Cheng-Wei Lai, Theresa Staniczek, Chung-Yu Lai, Kowit-Yu Chong and Chuan-Mu Chen
Genes 2021, 12(6), 930; https://doi.org/10.3390/genes12060930 - 18 Jun 2021
Cited by 11 | Viewed by 2658
Abstract
Osteoporosis is a rising health threat in the increasingly aging world population. It is a common skeletal disease strongly linked to genetic predisposition. We aim to identify the effects of the anti-inflammatory TGF-β1- and IL-10-specific single-nucleotide polymorphism (SNP) combination on the [...] Read more.
Osteoporosis is a rising health threat in the increasingly aging world population. It is a common skeletal disease strongly linked to genetic predisposition. We aim to identify the effects of the anti-inflammatory TGF-β1- and IL-10-specific single-nucleotide polymorphism (SNP) combination on the risk for osteoporosis. We investigated and analyzed the relationships between three TGF-β1 SNPs (−509C/T, +869 T/C and +29T/C), one IL-10 SNP (+1927A/C) and the level of bone mineral density (BMD), as well as the risk of osteoporosis in Taiwanese osteoporotic patients. A total of 217 subjects were recruited, including 88 osteoporotic patients and 129 healthy controls, for SNPs, BMD and clinical characteristics statistical analyses. Females with TGF-β1 SNP (−509 C/C) and IL-10 SNP (+1927 C/C) genotypes showed a great benefit for femoral neck T-scores. However, the combination of TGF-β1 SNP (−509 T/T) and IL-10 SNP (+1927 A/A) genotypes in all subjects showed a significant decrease in total hip BMD T-scores. The TGF-β1 SNP (−509 C/T) genotype in all subjects and TGF-β1 SNP (−509 T/T) and IL-10 SNP (+1927 A/C) genotypes in males showed positive effects on body height. The combination of the many SNPs in the anti-inflammatory TGF-β1 and IL-10 genes may be cooperatively involved in the development of osteoporosis. Our data suggested that the specific SNP combination of TGF-β1 (−509) and IL-10 (+1927) may act as a predictive factor for postmenopausal osteoporosis in Taiwanese women. Full article
(This article belongs to the Special Issue Key Genetic Determinants of Osteoporosis: From Bench to Bedside)
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Review

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13 pages, 2033 KiB  
Review
An Overlooked Bone Metabolic Disorder: Cigarette Smoking-Induced Osteoporosis
by Weidong Weng, Hongming Li and Sheng Zhu
Genes 2022, 13(5), 806; https://doi.org/10.3390/genes13050806 - 30 Apr 2022
Cited by 31 | Viewed by 5511
Abstract
Cigarette smoking (CS) leads to significant bone loss, which is recognized as an independent risk factor for osteoporosis. The number of smokers is continuously increasing due to the addictive nature of smoking. Therefore it is of great value to effectively prevent CS-induced osteoporosis. [...] Read more.
Cigarette smoking (CS) leads to significant bone loss, which is recognized as an independent risk factor for osteoporosis. The number of smokers is continuously increasing due to the addictive nature of smoking. Therefore it is of great value to effectively prevent CS-induced osteoporosis. However, there are currently no effective interventions to specifically counteract CS-induced osteoporosis, owing to the fact that the specific mechanisms by which CS affects bone metabolism are still elusive. This review summarizes the latest research findings of important pathways between CS exposure and bone metabolism, with the aim of providing new targets and ideas for the prevention of CS-induced osteoporosis, as well as providing theoretical directions for further research in the future. Full article
(This article belongs to the Special Issue Key Genetic Determinants of Osteoporosis: From Bench to Bedside)
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29 pages, 4213 KiB  
Review
Functional Validation of Osteoporosis Genetic Findings Using Small Fish Models
by Erika Kague and David Karasik
Genes 2022, 13(2), 279; https://doi.org/10.3390/genes13020279 - 30 Jan 2022
Cited by 10 | Viewed by 5844
Abstract
The advancement of human genomics has revolutionized our understanding of the genetic architecture of many skeletal diseases, including osteoporosis. However, interpreting results from human association studies remains a challenge, since index variants often reside in non-coding regions of the genome and do not [...] Read more.
The advancement of human genomics has revolutionized our understanding of the genetic architecture of many skeletal diseases, including osteoporosis. However, interpreting results from human association studies remains a challenge, since index variants often reside in non-coding regions of the genome and do not possess an obvious regulatory function. To bridge the gap between genetic association and causality, a systematic functional investigation is necessary, such as the one offered by animal models. These models enable us to identify causal mechanisms, clarify the underlying biology, and apply interventions. Over the past several decades, small teleost fishes, mostly zebrafish and medaka, have emerged as powerful systems for modeling the genetics of human diseases. Due to their amenability to genetic intervention and the highly conserved genetic and physiological features, fish have become indispensable for skeletal genomic studies. The goal of this review is to summarize the evidence supporting the utility of Zebrafish (Danio rerio) for accelerating our understanding of human skeletal genomics and outlining the remaining gaps in knowledge. We provide an overview of zebrafish skeletal morphophysiology and gene homology, shedding light on the advantages of human skeletal genomic exploration and validation. Knowledge of the biology underlying osteoporosis through animal models will lead to the translation into new, better and more effective therapeutic approaches. Full article
(This article belongs to the Special Issue Key Genetic Determinants of Osteoporosis: From Bench to Bedside)
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20 pages, 300 KiB  
Review
Genetic Determinants of Inherited Endocrine Tumors: Do They Have a Direct Role in Bone Metabolism Regulation and Osteoporosis?
by Francesca Marini, Francesca Giusti, Teresa Iantomasi and Maria Luisa Brandi
Genes 2021, 12(8), 1286; https://doi.org/10.3390/genes12081286 - 23 Aug 2021
Cited by 1 | Viewed by 2245
Abstract
Endocrine tumors are neoplasms originating from specialized hormone-secreting cells. They can develop as sporadic tumors, caused by somatic mutations, or in the context of familial Mendelian inherited diseases. Congenital forms, manifesting as syndromic or non-syndromic diseases, are caused by germinal heterozygote autosomal dominant [...] Read more.
Endocrine tumors are neoplasms originating from specialized hormone-secreting cells. They can develop as sporadic tumors, caused by somatic mutations, or in the context of familial Mendelian inherited diseases. Congenital forms, manifesting as syndromic or non-syndromic diseases, are caused by germinal heterozygote autosomal dominant mutations in oncogenes or tumor suppressor genes. The genetic defect leads to a loss of cell growth control in target endocrine tissues and to tumor development. In addition to the classical cancer manifestations, some affected patients can manifest alterations of bone and mineral metabolism, presenting both as pathognomonic and/or non-specific skeletal clinical features, which can be either secondary complications of endocrine functioning primary tumors and/or a direct consequence of the gene mutation. Here, we specifically review the current knowledge on possible direct roles of the genes that cause inherited endocrine tumors in the regulation of bone modeling and remodeling by exploring functional in vitro and in vivo studies highlighting how some of these genes participate in the regulation of molecular pathways involved in bone and mineral metabolism homeostasis, and by describing the potential direct effects of gene mutations on the development of skeletal and mineral metabolism clinical features in patients. Full article
(This article belongs to the Special Issue Key Genetic Determinants of Osteoporosis: From Bench to Bedside)
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