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Advances in Genetic Variants in Neurological and Psychiatric Diseases
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Advances in Genetic Variants in Neurological and Psychiatric Diseases

A Special Issue of Genes (ISSN 2073-4425) belonging to the section "Human Genomics and Genetic Diseases".

Deadline for manuscript submissions: closed (10 January 2026) | Viewed by 3691

Editor

Dr. Evelina Mocci

E-Mail Website
Guest Editor
Institute for Genome Sciences, School of Medicine, University of Maryland, Baltimore, MD 21201, USA
Interests: genetics; genomic data; genetic epidemiology; psychiatric and neurological conditions

Special Issue Information

Dear Colleagues,

Genetic research utilizing large datasets has elucidated the multifactorial causes of neurological and psychiatric disorders, marked by significant heritability and high levels of polygenicity.

Epidemiological studies emphasize significant comorbidity among various neurological and psychiatric conditions, indicating shared environmental risk factors and genetic mechanisms.

The extent to which these conditions share a common origin remains uncertain.

Additional research—including meta-analyses of genome-wide association studies (GWASs), polygenic risk scoring, and transcriptomic analyses, as well as network-based approaches—is needed to clarify the underlying causes of the observed comorbidity. This Special Issue aims to advance the understanding of this subject by fostering research that investigates the genetic framework of neurological and psychiatric disorders, either individually or in combination.

Dr. Evelina Mocci
Guest Editor

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 250 words) can be sent to the Editorial Office for assessment.

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-anonymized peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Genes 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 2600 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

  • pleiotropy
  • comorbidity
  • meta-analysis
  • polygenic risk score
  • transcriptome
  • network analysis
  • psychiatric
  • neurology

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Published Papers (1 paper)

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Review

30 pages, 640 KB  
Review
Genetics and Epigenetics of Obsessive–Compulsive Disorder
by Federico Bernoni d’Aversa and Massimo Gennarelli
Genes 2026, 17(2), 189; https://doi.org/10.3390/genes17020189 - 2 Feb 2026
Cited by 3 | Viewed by 3234
Abstract
Background: Obsessive–compulsive disorder (OCD) is a heterogeneous psychiatric condition with substantial heritability. Early genetic studies were often underpowered and produced limited reproducibility, but recent large-scale genomic and multi-omic approaches are beginning to elucidate the genetic architecture of OCD. Objectives: This review [...] Read more.
Background: Obsessive–compulsive disorder (OCD) is a heterogeneous psychiatric condition with substantial heritability. Early genetic studies were often underpowered and produced limited reproducibility, but recent large-scale genomic and multi-omic approaches are beginning to elucidate the genetic architecture of OCD. Objectives: This review aims to synthesise current evidence from recent genomic and epigenomic studies on OCD and their implications for molecular pathways of pathogenesis, including endophenotypes. Methods: We reviewed peer-reviewed literature and preprints published in recent years, focusing on multiple genetic approaches, including genome-wide association studies (GWAS), whole exome sequencing (WES), whole genome sequencing (WGS), and methylome-wide association studies (MWAS). We then integrated the results with endophenotypic evidence at the biochemical, physiological, structural, functional, and executive/cognitive levels. Results: Recent large-scale genomic studies provide strong evidence of a highly polygenic contribution from common variants, while rare coding and structural variants also contribute measurably, with enriched signals in pathways relevant to neurodevelopment and, in some cohorts, early-onset presentations. Epigenomic studies have moved from scattered findings to more replicable methylation patterns, including loci influenced by nearby genetic variation and indications of sex-dependent effects. Although convergence at the single-gene level remains limited, cross-study and cross-omics signals increasingly point to biological domains involving synaptic organisation and plasticity, neurological development and chromatin regulation, immune/stress pathways, and cellular homeostasis. Conclusions: The biology of OCD risk is best represented by an integrative model combining polygenic load, contributions from rare variants, and regulatory (epigenetic) mechanisms that influence intermediate phenotypes at the circuit and cognitive levels. The current findings are not yet clinically applicable for individual diagnosis; however, they may inform future multidisciplinary research frameworks and, in the longer term, contribute to the development of more personalised approaches in OCD. Full article
(This article belongs to the Special Issue Advances in Genetic Variants in Neurological and Psychiatric Diseases)
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