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Medicina
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Genetics of Human Diseases: Fishing for Causality
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Genetics of Human Diseases: Fishing for Causality

A special issue of Medicina (ISSN 1648-9144). This special issue belongs to the section "Genetics and Molecular Medicine".

Deadline for manuscript submissions: 31 July 2026 | Viewed by 392

Special Issue Editors

Dr. Kali Makedou

E-Mail Website1 Website2
Guest Editor
Laboratory of Biochemistry, AHEPA University Hospital, School of Medicine, Aristotle University of Thessaloniki, 54124 Thessaloniki, Greece
Interests: clinical biochemistry; biomarkers; epigenetics; proteomics
Special Issues, Collections and Topics in MDPI journals
Dr. Iasonas Dermitzakis

E-Mail Website1 Website2
Guest Editor Assistant
Department of Histology-Embryology, School of Medicine, Aristotle University of Thessaloniki, 54124 Thessaloniki, Greece
Interests: molecular medicine; stem cells; embryology; pathophysiology; skin
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues, 

The genetic and molecular foundations of human diseases have long been a central objective of biomedical research. Since the decoding of the human genome, the field has witnessed exponential advances in uncovering genetic variations and molecular pathways associated with a wide array of diseases. However, despite this progress, a persistent challenge remains—moving from the identification of associations between genes and diseases to the demonstration of causality. Establishing causal relationships is essential not only for comprehending disease pathogenesis but also for translating genetic insights into meaningful clinical interventions. This Special Issue aims to bring together cutting-edge research and comprehensive reviews that advance our knowledge of how genetic, epigenetic, and molecular factors causally contribute to human diseases. The metaphor of "fishing for causality" captures the ongoing scientific effort to sift through complex biological data, discern patterns, and ultimately hook the true drivers of disease amidst a sea of associations.

We invite high-quality original research articles, comprehensive reviews, and other contributions that address, but are not limited to, the following topics:

  • Genetic and molecular dissection of monogenic and complex diseases;
  • Novel approaches to causal inference in genetics and molecular biology;
  • Functional validation of disease-associated variants;
  • Systems biology analyses of disease networks;
  • Emerging technologies for studying genetic causality;
  • Clinical genomics and personalized medicine insights grounded in molecular research;
  • Epigenetics in the pathophysiology of diseases;
  • Identification and validation of biomarkers for disease prediction, diagnosis, and progression.

We welcome contributions across a wide range of disease areas, including, but not limited to, cancer, metabolic syndromes, autoimmune diseases, skin disorders, neurodegenerative disorders, cardiovascular diseases, and rare genetic syndromes.

Dr. Kali Makedou
Guest Editor

Dr. Iasonas Dermitzakis
Guest Editor Assistant

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 100 words) can be sent to the Editorial Office for announcement on this website.

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-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Medicina 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 2200 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

  • genetic causality
  • disease pathogenesis
  • molecular mechanisms
  • functional genomics
  • biomarkers
  • precision medicine
  • genetic variants
  • complex disease
  • translational research
  • epigenetics

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Published Papers (1 paper)

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Research

12 pages, 898 KB  
Article
Population-Based Genetic Assessment of Thrombophilia Polymorphisms: Allelic Frequencies and Population Linkage Dynamics
by Panagiota Tsiatsiou, Sofia Balaska, Zafeirios Tsinaris, Maria Archonti, Antonia Lanta, Vasiliki Tsaireli, Anna Takardaki, Areti Kourti, Angeliki Kassomenaki, Georgios Meletis, Dimitrios A. Tsakiris and Lemonia Skoura
Medicina 2025, 61(11), 1935; https://doi.org/10.3390/medicina61111935 - 29 Oct 2025
Viewed by 262
Abstract
Background and Objectives: Thrombophilia is a prothrombotic disorder that increases the risk of blood clotting and can pose serious health problems. It is considered a condition of gene–gene or gene–environment interactions. Variation in the prevalence of thrombophilia mutations and their interaction among [...] Read more.
Background and Objectives: Thrombophilia is a prothrombotic disorder that increases the risk of blood clotting and can pose serious health problems. It is considered a condition of gene–gene or gene–environment interactions. Variation in the prevalence of thrombophilia mutations and their interaction among populations necessitates localized genetic assessments. However, population-based genetic data remains limited for developing effective preventive strategies. Materials and Methods: This cross-sectional observational study was conducted over five years (2020–2024) at a tertiary university hospital in Northern Greece. A total of 2961 individuals aged 18–85 years (mean: 50.5) were registered based on family or medical history of venous thromboembolism (VTE) or clinical symptoms of VTE. The final analysis included 2078 participants comprising 1143 males (55%) and 935 females (45%), who met all the inclusion criteria. Inclusion criteria were absence of acute illness or malignancy, informed consent, and an adequate DNA quantity for genotyping, whereas excluded criteria included incomplete laboratory data, active inflammatory or malignant disease, and cognitive or psychiatric conditions. Peripheral blood samples were collected in 2 mL K3-EDTA tubes, and genomic DNA was analyzed using real-time polymerase chain reaction (PCR) with melting curve analysis and hybridization probes (LightMix® in vitro diagnostics, TIB MolBiol, Berlin, Germany). Five thrombophilia-related polymorphisms, Factor V Leiden (F5 G1691A), prothrombin (F2 G20210A), methylenetetrahydrofolate reductase (MTHFR C677T and MTHFR A1298C), and Plasminogen Activator Inhibitor-1 (PAI-1) 4G/5G, were examined for allele and genotype frequencies, Hardy–Weinberg equilibrium testing, pairwise linkage disequilibrium (D′ and r2), and power analysis. For subjects tested for Factor V Leiden (n = 1476), the activated protein C resistance (APC) ratio was additionally evaluated using the ACL TOP 750 analyzer. Results: Allele frequencies were 7.3% for FV Leiden and 3.7% for FII. The PAI-1 allele was distributed at 44%, while the MTHFR (C677T and A1298C) alleles were each present at 33%. Significant linkage disequilibrium was identified between MTHFR (C677T and A1298C) and between MTHFR A1298C and PAI-1. No evolutionary pressure or demographic bias was found in the Hardy–Weinberg equilibrium. The APC ratio demonstrated a high sensitivity (99.2%) and specificity (96.6%), indicating that it may serve as a reliable screening method. Conclusions: Our findings highlight informative patterns in the genetic predisposition to thrombophilia, which may help develop rule-based strategies for implementing thromboprophylaxis guidelines and personalized medical interventions. Full article
(This article belongs to the Special Issue Genetics of Human Diseases: Fishing for Causality)
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