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: 20 January 2025 | Viewed by 25

Special Issue Editor


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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
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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

Manuscript Submission Information

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Keywords

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

Published Papers

This special issue is now open for submission.
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