Advances in Pharmacogenetics of Diseases

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

Deadline for manuscript submissions: 25 June 2025 | Viewed by 789

Special Issue Editor


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Guest Editor
Unit for Psychiatric Research, Psychiatry, Aalborg University Hospital, DK-9100 Aalborg, Denmark
Interests: pharmacogenetics; precision medicine; psychiatry; genetic markers; rare variants; PRS; molecular pathway analysis
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Special Issue Information

Dear Colleagues,

Pharmacogenetics holds the promise of supporting a Copernican revolution in medicine. This event will be especially relevant in diseases, where the current, guidelines-based, trial and error strategy leads to periods of untreated disorders, poor compliance, and side effects. Pharmacogenetics holds the potential to substantiate part of the scientific development, which will allow precision medicine to become the most common treatment strategy in our hospitals. The relevance of this field is supported by emerging international guidelines in pharmacogenetics. Yet, implementable results, especially in the field of pharmacodynamics, lag behind expectations. There are numerous international coordinated initiatives underway to remove current obstacles to the application of pharmacogenetics in diseases. Conversely, the clinical diversity in therapy outcomes that has been found can only be partially explained by the validated pharmacogenomic markers that are already in place. It is necessary to conduct additional research.

Original research, reviews, and creative methods covering a variety of pharmacogenetics-related subjects in diseases are welcome in this Special Issue. The use of pharmacogenetics in clinical practice, the development of legislative tools and infrastructure related to pharmacogenetics, the search for novel pharmacogenetics markers specific to treatments of diseases, the importance of epigenetics and rare genetic variants in pharmacogenetics, and innovative protocols for pharmacogenetics research are just a few of the subjects covered in this Special Issue. 

Dr. Antonio Drago
Guest Editor

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Keywords

  • pharmacogenetics
  • precision medicine
  • disease
  • genetic markers
  • rare variants
  • PRS
  • molecular pathway analysis

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Published Papers (1 paper)

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Research

20 pages, 2240 KiB  
Article
Calcium Signaling and Molecular Adhesion Processes May Hold the Key to Genetic Risk for Autism: A Molecular Pathway Analysis on Two Independent Samples
by Antonio Drago, Marco Calabro and Concetta Crisafulli
Genes 2024, 15(12), 1609; https://doi.org/10.3390/genes15121609 - 17 Dec 2024
Viewed by 582
Abstract
Background: Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by limited interests, difficulties in social interactions, repetitive behaviors, and impairments in social communication. ASD tends to run in families, and twin studies suggest a strong genetic basis for the disorder. However, the [...] Read more.
Background: Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by limited interests, difficulties in social interactions, repetitive behaviors, and impairments in social communication. ASD tends to run in families, and twin studies suggest a strong genetic basis for the disorder. However, the definition of a genetic profile that indicates a risk for ASD remains unclear. Methods: This analysis includes an investigation (Autism Dataset 4 from the NIMH repository, n = 2890) and a replication (Autism Dataset 3 from the NIMH repository, n = 1233) of trio samples with GWAS data. In Phase 1, a molecular pathway analysis is conducted on the investigation sample to test for the enrichment of specific Gene Ontology (GO) terms associated with autism. In Phase 2, the identified pathways are tested for enrichment in the replication sample. Permutation tests are performed to reduce the risk of false-positive findings. Quality assessment is conducted using QQ-plots and λ values, with Plink and R utilized for the Transmission Disequilibrium Test (TDT) and permutation tests. Results: The GO term GO:0007417 was found to be enriched in both the investigation and replication samples. SNPs associated with this pathway were observed at a frequency higher than expected in the replication sample. Conclusions: The GO term GO:0007417 (development of the nervous system) was associated with autism in both trio samples. Variations in the genes TMPRSS4, TRPC4, and PCDH9 were consistently linked to autism across the two independent samples, highlighting the role of calcium signaling and cell adhesion molecules in the risk of autism-related disorders. The pathways and variations associated with autism are described in detail, which can contribute to the engineering of new pharmacological treatments for ASD. Full article
(This article belongs to the Special Issue Advances in Pharmacogenetics of Diseases)
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