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Genetics of Multifactorial Diseases: 2nd Edition
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Genetics of Multifactorial Diseases: 2nd Edition

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 (20 January 2025) | Viewed by 2124

Special Issue Editor

Dr. Yiannis Vasilopoulos

E-Mail Website
Guest Editor
Laboratory of Genetics, Section of Genetics, Cell Biology and Development, Department of Biology, University of Patras, 26504 Patras, Greece
Interests: multifactorial diseases; psoriasis; atopic dermatitis; rheumatoid arthritis; pharmacogenetics/pharmacogenomics; molecular biology and functional analysis of genes
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Current genetic approaches, with the major example being genome-wide association studies (GWASs), have unveiled numerous associated loci in multifactorial diseases, thus enabling the computation of an individual’s predisposition to a complex trait through polygenic risk scores (PRSs). However, existing approaches are limited to the incorporation of common identified genetic variants that explain a small proportion of the estimated genetic variability, thus excluding the effect of rare variants that have been repeatedly shown to explain the ‘missing heritability’. The clinical and molecular variability in multifactorial diseases is additionally mediated by multi-layered interactions between the genetic component and environmental factors; these gene–environment interactions are depicted from the epigenetic modulations that orchestrate the expression of respective loci. Deciphering the role of rare genetic variants in a trait’s predisposition as well as assessing gene–environment interactions through the functional relevance of the epigenetic modifications could help in forming holistic approaches that capture the majority of inter-individual variability, fostering the progression and establishment of personalized approaches in precision medicine and preventive interventions.

Given the increasing research efforts in the putative incorporation of such risk factors in the clinical routine, in this Special Issue of Genes entitled ‘Genetics of Multifactorial Diseases’, we seek to cover the relevant aspects of the genetic and epigenetic factors governing the inter-individual variability in multifactorial diseases, their relative functional role, and their modulation of the clinical phenotype.

Dr. Yiannis Vasilopoulos
Guest Editor

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Keywords

  • multifactorial diseases
  • epigenetics
  • genetic variants
  • polymorphisms
  • gene–environment interactions
  • rare variants
  • polygenic risk scores
  • pharmacogenetics

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Published Papers (2 papers)

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Research

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14 pages, 4036 KiB  
Article
Warfarin Pharmacogenomics: Designing Electrochemical DNA-Based Sensors to Detect CYP2C9*2 Gene Variation
by Tiago Barbosa, Stephanie L. Morais, Eduarda Pereira, Júlia M. C. S. Magalhães, Valentina F. Domingues, Hygor Ferreira-Fernandes, Giovanny Pinto, Marlene Santos and Maria Fátima Barroso
Genes 2025, 16(4), 372; https://doi.org/10.3390/genes16040372 - 24 Mar 2025
Viewed by 315
Abstract
Background/Objectives: The CYP2C9 enzyme is involved in the metabolism of warfarin. The CYP2C9 gene harbors several single-nucleotide polymorphisms (SNPs), including CYP2C9*2 (rs1799853), which is known to affect warfarin’s therapeutic response. So, it is important to develop analytical tools capable of genotyping these SNPs [...] Read more.
Background/Objectives: The CYP2C9 enzyme is involved in the metabolism of warfarin. The CYP2C9 gene harbors several single-nucleotide polymorphisms (SNPs), including CYP2C9*2 (rs1799853), which is known to affect warfarin’s therapeutic response. So, it is important to develop analytical tools capable of genotyping these SNPs to adjust warfarin’s therapeutic outcomes. In this work, an electrochemical DNA-based sensor was constructed and optimized for the detection of the CYP2C9*2 polymorphism. Methods: Using bioinformatic database platforms, two 71 base pair DNA target probes with the polymorphic variants A and G were chosen and designed. A DNA-based sensor was composed by mercaptohexanol and the CYP2C9*2 DNA capture probe in a self-assembled monolayer connected to screen-printed gold electrodes. Two independent hybridization events of the CYP2C9*2 allele were designed using complementary fluorescein-labeled DNA signaling to improve selectivity and avoid secondary structures. Three human samples with the homozygous variant (G/G) and non-variant (A/A) and heterozygous (G/A) genotypes were amplified by PCR and then applied to the developed genosensor. Results: Chronoamperometry measurements were performed for both polymorphic probes. A calibration curve in the 0.25 to 2.50 nM (LOD of 13 pM) and another in the 0.15 to 5.00 nM range (LOD of 22.6 pM) were obtained for the homozygous non-variant and variant probes, respectively. This innovative tool was capable of identifying the hybridization reaction between two complementary strands of immobilized DNA, representing a genotyping alternative to the classical PCR methodology. Conclusions: The developed electrochemical DNA-based sensor was able to discriminate two synthetic SNP target sequences (Target-A and Target-G) and detect, with specificity, the three patients’ genotypes (G/G, G/A, and A/A). This tool is therefore a promising, sensitive, and cost-effective analytical way to determine and discriminate an individual’s genotype and predict the appropriate warfarin dose. Full article
(This article belongs to the Special Issue Genetics of Multifactorial Diseases: 2nd Edition)
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Review

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19 pages, 1719 KiB  
Review
Chlamydia trachomatis: From Urogenital Infections to the Pathway of Infertility
by Rafaela Rodrigues, Carlos Sousa, Alberto Barros and Nuno Vale
Genes 2025, 16(2), 205; https://doi.org/10.3390/genes16020205 - 7 Feb 2025
Viewed by 1121
Abstract
Chlamydia trachomatis (CT) is a major cause of sexually transmitted infections (STIs) worldwide, with significant implications for reproductive health. The bacterium’s genome contains highly polymorphic regions, influencing both the type and severity of infections. These genetic variations, particularly those occurring in the major [...] Read more.
Chlamydia trachomatis (CT) is a major cause of sexually transmitted infections (STIs) worldwide, with significant implications for reproductive health. The bacterium’s genome contains highly polymorphic regions, influencing both the type and severity of infections. These genetic variations, particularly those occurring in the major outer membrane protein (MOMP) gene, are critical for classifying the bacterium into distinct serovars and enable CT to adapt to diverse host environments, contributing to its immune evasion, persistence, and pathogenicity. Persistent or untreated urogenital infections can lead to chronic inflammation, tissue damage, and pelvic inflammatory disease, ultimately increasing the risk of ectopic pregnancy, spontaneous abortion, and infertility. This review consolidates current knowledge on the genetic diversity of CT, its potential role in modulating infection outcomes, and its immune evasion mechanisms. By integrating scientific evidence linking chlamydial infections to infertility, we underscore the urgent need for targeted research to address this critical public health challenge. Full article
(This article belongs to the Special Issue Genetics of Multifactorial Diseases: 2nd Edition)
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