Special Issue "Genetic Disorders of Bone"

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

Deadline for manuscript submissions: 10 December 2021.

Special Issue Editors

Dr. Susanna Balcells Comas
E-Mail Website
Guest Editor
1. Department of Genetics Microbiology and Statistics, Institute of Biomedicine of University of Barcelona (IBUB), Barcelona, Spain
2. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Faculty of Biology, University of Barcelona, Barcelona, Spain
Interests: genetics; osteoporosis; atypical femoral fracture; high bone mass; osteogenesis imperfecta; functional validation of genetic variants; mendelian diseases of bone; intellectual disability;
Dr. Daniel Grinberg
E-Mail Website
Guest Editor
Department of Genetics Microbiology and Statistics, Institute of Biomedicine of University of Barcelona (IBUB); Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Faculty of Biology, University of Barcelona, 08028 Barcelona, Spain
Interests: genetics; osteoporosis; atypical femoral fracture; high bone mass; osteogenesis imperfecta; functional validation of genetic variants; mendelian diseases of bone; intellectual disability; lysosomal diseases;
Dr. Natalia Garcia-Giralt
E-Mail Website
Guest Editor
Musculoskeletal Research Group, IMIM (Hospital del Mar Medical Research Institute), CIBERFES, ISCIII, 08003 Barcelona, Catalonia, Spain
Interests: bone phenotypes; atypical femoral fracture; healthy ageing; functional validation of genetic variants; musculoskeletal mendelian diseases; big data analysis;

Special Issue Information

Dear Colleagues,

In the past decade, massive sequencing has revolutionized genetic variant discovery and has allowed for the definition of many new Mendelian diseases, which were not amenable to linkage analysis. Genetic diseases affecting bone have not been an exception. Notably, osteogenesis imperfecta has witnessed the identification of a growing list of causal genes, beyond COL1A1 and COL1A2 and a large number of skeletal dysplasias have been genetically defined. Nonetheless, there are still some bone conditions awaiting the identification of their precise genetic cause. Likewise, during the past decade, an explosion of GWA studies on the polygenic basis of osteoporosis has uncovered hundreds of loci involved in the determination of bone mineral density (BMD) and osteoporotic fracture.

It is time to share and combine all this genetic information and to investigate the functional consequences at molecular, cellular, physiological, and organismal levels. The present “omics” era should allow for a fruitful integration of data from many different sources, including genomic (both germline and somatic variation), epigenomic, transcriptomic, proteomic, metabolomic, pharmacogenetic, and phenomic sources.

This Special Issue invites papers on genetic disorders of the bone and extracellular matrix in a broad sense, to highlight bone as an essential tissue and to provide new and detailed description of its workings in health and disease.

Dr. Susanna Balcells Comas
Dr. Daniel Grinberg
Dr. Natalia Garcia-Giralt
Guest Editors

Manuscript Submission Information

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Keywords

  • Mendelian bone dysplasia
  • Bone fracture
  • Pharmacogenetics of bone
  • Polygenic risk score for osteoporosis
  • Somatic mutations in bone disorders
  • Omics aspects of bone diseases
  • Animal models for bone phenotypes

Published Papers (3 papers)

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Research

Article
Association of GC Variants with Bone Mineral Density and Serum VDBP Concentrations in Mexican Population
Genes 2021, 12(8), 1176; https://0-doi-org.brum.beds.ac.uk/10.3390/genes12081176 - 29 Jul 2021
Viewed by 408
Abstract
Vitamin D-binding protein (VDBP) is encoded by the GC gene and is an active participant in the control of bone metabolism. However, the effect of its major variants on VDBP concentration and bone mineral density (BMD) remains unclear. Our aim was to analyze [...] Read more.
Vitamin D-binding protein (VDBP) is encoded by the GC gene and is an active participant in the control of bone metabolism. However, the effect of its major variants on VDBP concentration and bone mineral density (BMD) remains unclear. Our aim was to analyze the effect of major GC variants on serum VDBP concentration and BMD. We recruited individuals from the Health Workers Cohort Study, which includes employees of the Mexican Institute of Social Security (IMSS). A total of 1853 adults were included. The single nucleotide polymorphisms (SNPs) rs7041 and rs4588 were genotyped to identify the three best characterized haplotypes of GC. Serum VBDP, 25(OH)D and BMD were also measured. Among women, the G allele of rs7041 was associated with higher VDBP and BMD compared to homozygous TT. The A allele of rs4588 was associated with lower VDBP and BMD compared to CC homozygous. In men, GC variants were only associated with VDBP levels. We did not observe an association between free/bioavailable 25(OH)D and BMD in men and women. Our results support an association of VDBP in bone health. The G and C alleles, from rs7041 and rs4588, respectively, are associated with high concentrations of VDBP and BMD in this sample of Mexican postmenopausal women. Full article
(This article belongs to the Special Issue Genetic Disorders of Bone)
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Article
SLC26A2-Associated Diastrophic Dysplasia and rMED—Clinical Features in Affected Finnish Children and Review of the Literature
Genes 2021, 12(5), 714; https://doi.org/10.3390/genes12050714 - 11 May 2021
Viewed by 997
Abstract
Diastrophic dysplasia (DTD) is a rare osteochondrodysplasia characterized by short-limbed short stature and joint dysplasia. DTD is caused by mutations in SLC26A2 and is particularly common in the Finnish population. However, the disease incidence in Finland and clinical features in affected individuals have [...] Read more.
Diastrophic dysplasia (DTD) is a rare osteochondrodysplasia characterized by short-limbed short stature and joint dysplasia. DTD is caused by mutations in SLC26A2 and is particularly common in the Finnish population. However, the disease incidence in Finland and clinical features in affected individuals have not been recently explored. This registry-based study aimed to investigate the current incidence of DTD in Finland, characterize the national cohort of pediatric subjects with DTD and review the disease-related literature. Subjects with SLC26A2-related skeletal dysplasia, born between 2000 and 2020, were identified from the Skeletal dysplasia registry and from hospital patient registry and their clinical and molecular data were reviewed. Fourteen subjects were identified. Twelve of them were phenotypically classified as DTD and two, as recessive multiple epiphyseal dysplasia (rMED). From the subjects with available genetic data, 75% (9/12) were homozygous for the Finnish founder mutation c.-26+2T>C. Two subjects with rMED phenotype were compound heterozygous for p.Arg279Trp and p.Thr512Lys variants. The variable phenotypes in our cohort highlight the wide spectrum of clinical features, ranging from a very severe form of DTD to milder forms of DTD and rMED. The incidence of DTD in Finland has significantly decreased over the past decades, most likely due to increased prenatal diagnostics. Full article
(This article belongs to the Special Issue Genetic Disorders of Bone)
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Article
Association of RANKL and OPG Gene Polymorphism in Arab Women with and without Osteoporosis
Genes 2021, 12(2), 200; https://0-doi-org.brum.beds.ac.uk/10.3390/genes12020200 - 29 Jan 2021
Cited by 2 | Viewed by 664
Abstract
Receptor activator of the nuclear factor-κB ligand (RANKL) and osteoprotegerin genes (OPG) were identified as susceptible loci for postmenopausal osteoporosis (PMO) in various ethnicities, but neither have been studied in an Arabian population. Hence, the current study aimed to fill this gap. A [...] Read more.
Receptor activator of the nuclear factor-κB ligand (RANKL) and osteoprotegerin genes (OPG) were identified as susceptible loci for postmenopausal osteoporosis (PMO) in various ethnicities, but neither have been studied in an Arabian population. Hence, the current study aimed to fill this gap. A total of 372 postmenopausal women (174 osteoporosis (OP) and 198 control group (CTRs)) were genotyped for four SNPs: rs2277438A/G and rs9533156T/C (RANKL), and rs2073618C/G and rs3102735T/C (OPG). Anthropometrics, bone mineral density, 25(OH)D and several other bone markers were measured. The frequency distribution of the heterozygous CG genotype of rs2073618 (OPG) was lower in the OP (36.8%) than in CTRs (47%) (OR: 0.6, 95% CI: 0.3–0.97; p = 0.041). No differences in the allelic/genotypic frequencies were detected between the two groups for all other studied SNPs. However, the heterozygous TC genotype of rs3102735 (OPG) was associated significantly with lower BMD at the femoral neck in OP subjects (p = 0.04). The homozygous rare CC genotype of rs9533156 (RANKL) was associated with lower 25(OH)D levels in CTRs (p = 0.032). In contrast, heterozygous AG genotype of rs2277438 (RANKL) is associated with lower 25(OH)D in the OP group (p = 0.02). Our results suggest that RANKL SNPs may impact 25(OH)D levels and that OPG SNP rs2073618A/G is a significant genetic risk factor for PMO Saudi Arabian women. Full article
(This article belongs to the Special Issue Genetic Disorders of Bone)
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