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Advances in Genetics of Skeletal Development
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Advances in Genetics of Skeletal Development

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

Deadline for manuscript submissions: closed (10 May 2026) | Viewed by 2717

Editors

Dr. André M Travessa

E-Mail Website
Guest Editor
1. Faculty of Medicine, University of Lisbon, Lisbon, Portugal
2. Medical Genetics Department, ERN BOND and ERN ITHACA, ULS Santa Maria, Lisbon, Portugal
Interests: skeletal dysplasias; clinical genetics; genetics
Dr. Zhousheng Xiao

E-Mail Website
Guest Editor
Division of Med Nephrology, Department of Medicine, College of Medicine Memphis, The University of Tennessee Health Science Center, Memphis, TN 38103, USA
Interests: bone biology; mouse genetics; polycystins; TAZ; Runx2; FGF23
Prof. Dr. Dragan Primorac

E-Mail Website
Guest Editor
1. Eberly College of Science, Penn State University, 517 Thomas St, State Coll, PA 16803, USA
2. St. Catherine Hospital, Universities of Split, Osijek and Rijeka, 49210 Zabok, Croatia
Interests: personalised medicine; stem cells; pharmacogenetics; paediatrics; DNA analysis; human diseases; bone diseases; forensic genetics; population genetics
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Skeletal development is a highly regulated process that involves a complex interplay of genetic, molecular, and environmental factors. Recent advances in genomic technologies and genetic analysis have significantly enhanced our understanding of the molecular mechanisms underlying skeletal formation and the aetiology of skeletal dysplasias and other bone-related disorders. This Special Issue, titled “Advances in Genetics of Skeletal Development”, aims to compile original research and comprehensive reviews that explore the genetic basis of skeletal development, identify novel gene variants, and elucidate pathophysiological mechanisms of skeletal diseases.

We welcome contributions that focus on a broad range of topics, including but not limited to, the following: rare skeletal dysplasias, genotype–phenotype correlations, functional studies of disease-causing mutations, and the use of next-generation sequencing in clinical diagnostics. Studies on gene regulation, epigenetic influences, and gene–environment interactions in bone development are also encouraged.

Our goal is to highlight the translational potential of genetic discoveries to improve diagnosis, patient management, and therapeutic strategies for skeletal disorders. We invite researchers and clinicians working in the fields of human genomics, clinical genetics, developmental biology, and orthopaedics to contribute to this Special Issue.

Dr. André M Travessa
Dr. Zhousheng Xiao
Prof. Dr. Dragan Primorac
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 250 words) can be sent to the Editorial Office for assessment.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-anonymized peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Genes is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • skeletal development
  • skeletal dysplasias
  • clinical genetics
  • human genomics

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Published Papers (2 papers)

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Research

13 pages, 678 KB  
Article
Association of Vitamin D Receptor (VDR) Gene Polymorphisms with Osteoporotic Vertebral Fracture Risk: A Case–Control Study
by Nimetullah Alper Durmuş, Merdan Orunoglu, Sukru Oral, Rahmi Kemal Koç, Munis Dundar and Mehmet Meral
Genes 2026, 17(4), 410; https://doi.org/10.3390/genes17040410 - 31 Mar 2026
Cited by 1 | Viewed by 1040
Abstract
Background/Objectives: Osteoporosis is a systemic skeletal disorder characterized by reduced bone mass and microarchitectural deterioration, resulting in an increased risk of fragility fractures, particularly vertebral fractures. Genetic factors are considered important in osteoporotic fracture susceptibility, and polymorphisms of the vitamin D receptor (VDR) [...] Read more.
Background/Objectives: Osteoporosis is a systemic skeletal disorder characterized by reduced bone mass and microarchitectural deterioration, resulting in an increased risk of fragility fractures, particularly vertebral fractures. Genetic factors are considered important in osteoporotic fracture susceptibility, and polymorphisms of the vitamin D receptor (VDR) gene have been widely studied because of their role in bone metabolism. To evaluate the distribution of VDR gene polymorphisms (FokI, BsmI, ApaI, and TaqI) in patients with osteoporotic vertebral fractures and to assess their association with fracture susceptibility. Methods: This case–control study included 86 individuals: 43 patients who underwent vertebroplasty for osteoporotic vertebral fractures and 43 osteoporotic individuals without vertebral fractures serving as controls. VDR gene polymorphisms ApaI, TaqI, BsmI and FokI were analyzed using real-time polymerase chain reaction. Genotype distributions were compared using Fisher’s exact test, and Hardy–Weinberg equilibrium was evaluated. Results: A significant difference between groups was observed only for the ApaI polymorphism (p = 0.002). The GG genotype was more frequent in patients, whereas the variant genotypes (GT and TT) were more prevalent in controls. The GG genotype was associated with an increased risk of vertebral fractures, while the presence of variant genotypes may be associated with reduced fracture susceptibility. No significant associations were found for TaqI, BsmI, or FokI polymorphisms. Conclusions: The ApaI polymorphism of the VDR gene may represent a protective genetic factor against osteoporotic vertebral fractures. In contrast, no associations were identified for the TaqI, BsmI, or FokI polymorphisms in this cohort. Larger studies in diverse populations are required to confirm these findings and to clarify the role of VDR gene variants in fracture susceptibility. Full article
(This article belongs to the Special Issue Advances in Genetics of Skeletal Development)
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12 pages, 525 KB  
Article
The GDF5 rs143384 Polymorphism Is Associated with the Severity of Knee Osteoarthritis and Shorter Stature in Female Brazilian Patients: A Cross-Sectional Study
by Jamila Alessandra Perini, Igor Stefano Menescal Pedrinha, Lucas Rafael Lopes, Phelippe Augusto Valente Maia, Jéssica Vilarinho Cardoso and Eduardo Branco de Sousa
Genes 2025, 16(12), 1520; https://doi.org/10.3390/genes16121520 - 18 Dec 2025
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Abstract
Background/Objectives: Knee osteoarthritis (KOA) is a multifactorial and degenerative disease. Growth differentiation factor 5 (GDF5) polymorphism rs143384 G > A is associated with reduced gene expression and musculoskeletal pathologies. This study aimed to evaluate the association between this functional polymorphism and [...] Read more.
Background/Objectives: Knee osteoarthritis (KOA) is a multifactorial and degenerative disease. Growth differentiation factor 5 (GDF5) polymorphism rs143384 G > A is associated with reduced gene expression and musculoskeletal pathologies. This study aimed to evaluate the association between this functional polymorphism and clinical variability and disease severity among patients with KOA in an admixed population. Methods: This cross-sectional observational study enrolled 224 Brazilian patients with KOA, who were evaluated and classified according to disease severity. Results: The median age was 64 (44–84) years; 75.9% of the patients were female, 50.9% were shorter than 1.60 m, and 67.4% were obese or morbidly obese. The disease severity distribution was 64.7% grades I–III and 35.3% IV–V. Patients with KOA who were over 70 years had significantly more advanced grades (OR = 9.3; 95% CI = 3.4–26), in either female group (OR = 8.2; 95% CI = 2.6–26). The minor allele frequency of the GDF5 rs143384 A variant was 41.7% in the overall KOA case group, increasing with disease severity (39.7% in grades I–III versus 45.6% in IV–V). After adjusting for the confounding factors (age and BMI) the GDF5 GA + AA genotype was significantly associated with higher KOA severity IV–V in female patients (OR = 2.5; 95% CI = 1.2–5.3). Additionally, the mean height of female KOA patients with the GDF5 GA + AA genotype (1.56 ± 0.07 m) was significantly shorter than that of patients with the GG genotype (1.59 ± 0.08 m). Conclusions: The GDF5 rs143384 polymorphism was associated with greater KOA severity and shorter stature in female patients. These results suggest that this variant may contribute to phenotypic variability in patients with knee osteoarthritis, helping to refine clinical characterization and stratification in this population, contributing to personalized diagnoses and guiding future changes in treatment guidelines for knee osteoarthritis. Full article
(This article belongs to the Special Issue Advances in Genetics of Skeletal Development)
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