Genes and Gene Polymorphisms Associated with Complex Diseases

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 (31 May 2025) | Viewed by 713

Special Issue Editor


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Guest Editor
Faculty of Medicine, Masaryk University, 625 00 Bohunice, Czech Republic
Interests: complex diseases; gene polymorphism; case–control study; molecular pathophysiology

Special Issue Information

Dear Colleagues,

Human genetics has emerged as one of the most dynamic areas of biology, with a broadening societal impact. Complex diseases are commonly believed to be caused by the breakdown of several correlated genes rather than individual genes. The availability of genome-wide data from large human studies provides us with a new opportunity to explore this hypothesis by analysing disease-related biomolecular networks, which are expected to bridge genotypes and disease phenotypes and further reveal the biological mechanisms of complex diseases. On the other hand, high-quality studies based on candidate gene associations may also provide interesting results with the potential to define new genetic biomarkers that may be useful for clinical practice. 

The aim of this Special Issue is the collection of genetic/genomic studies closely focused on clearly defined clinicial output. The results of well-documented, complex disease studies performed on patients with cardiovascular diseases, diabetes mellitus, chronic inflammatory diseases, and cancer should be included. To achieve this goal, we would like to invite scientists from various fields of research to report their findings on the genetics of different complex human diseases, especially in association with molecular pathophysiological aspects of their etiopathogenesis and/or therapy.

Prof. Dr. Anna Vasku
Guest Editor

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Keywords

  • gene predisposition
  • gene polymorphism
  • molecular pathophysiology
  • complex diseases
  • genome-wide studies
  • case–control studies
  • case–case studies
  • genotype–phenotype studies

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Published Papers (1 paper)

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Research

12 pages, 1044 KiB  
Article
Endplate Lesions of the Lumbar Spine: Biochemistry and Genetics
by Alessandra Colombini, Vincenzo Raffo, Angela Elvira Covone, Tito Bassani, Domenico Coviello, Sabina Cauci, Ludovica Pallotta and Marco Brayda-Bruno
Genes 2025, 16(7), 738; https://doi.org/10.3390/genes16070738 - 26 Jun 2025
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Abstract
Background/Objectives: Endplate lesions of the lumbar spine are often asymptomatic and frequently observed incidentally by radiological assessment. Variants in the vitamin D receptor gene (VDR) and an increase in some biochemical markers related to the osteo-cartilaginous metabolism were found in patients [...] Read more.
Background/Objectives: Endplate lesions of the lumbar spine are often asymptomatic and frequently observed incidentally by radiological assessment. Variants in the vitamin D receptor gene (VDR) and an increase in some biochemical markers related to the osteo-cartilaginous metabolism were found in patients with endplate lesions. The aim of this study was to identify biochemical and genetic markers putatively associated with the presence of endplate lesions of the lumbar spine. Methods: Quantification of circulating bone remodeling proteins was obtained from 10 patients with endplate lesions and compared with age- and sex-matched controls. Whole exome sequencing (WES) was performed on patient genomic DNA using the Novaseq 6000 platform (Illumina, San Diego, CA, USA), obtaining a median read depth of 117×–200×, with ≥98% of regions covering at least 20×. The sequencing product was aligned to the reference genome (GRCh38.p13-hg38) and analyzed with Geneyx software. Results: We observed modifications in the levels of circulating proteins involved in bone remodeling and angiogenesis. We identified variants of interest in aggrecan (ACAN), bone morphogenetic protein 4 (BMP4), cytochrome P450 family 3 subfamily A member 4 (CYP3A4), GLI family zinc finger 2 (GLI2), heparan sulfate proteoglycan 2 (HSPG2), and mesoderm posterior bHLH transcription factor 2 (MESP2). VDR polymorphism (rs2228570) was present in nine patients, with the homozygotic ones having more severe endplate lesions and higher levels of the analyzed circulating markers in comparison with heterozygotic patients. Conclusions: These data represent interesting evidence of genetic variants, particularly in VDR, and altered levels of circulating markers of bone remodeling associated with endplate lesions, which should be confirmed in a larger population. The hypothesis suggested by our results is that the endplate lesions could be the consequence of an altered ossification mechanism at the vertebral level. Full article
(This article belongs to the Special Issue Genes and Gene Polymorphisms Associated with Complex Diseases)
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