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Genetics of Parkinson’s Disease Around the World
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Genetics of Parkinson’s Disease Around the World

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

Deadline for manuscript submissions: closed (20 February 2025) | Viewed by 2565

Special Issue Editors

Dr. Miguel E Rentería

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Guest Editor
QIMR Berghofer Medical Research Institute, Brisbane, Australia
Interests: Parkinson’s disease; neuropsychiatric diseases
Dr. Katarzyna Smilowska

E-Mail Website
Guest Editor
Department of Neurology, 5th Ragional Hospital, Sosnowiec, Poland
Interests: Parkinson’s disease; genetics of movement disorders
Dr. Rauan Kaiyrzhanov

E-Mail Website
Guest Editor
Institute of Neurology, University College London, London, UK
Interests: neuromuscular diseases
Dr. Wael Mohamed Yousef Mohamed

E-Mail Website
Guest Editor
Department of Basic Medical Sciences, Kulliyyah of Medicine, International Islamic University Malaysia, Kuantan, Malaysia
Interests: Parkinson’s disease; Alzheimer’s dementia
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Parkinson’s disease (PD) is a genetically complex neurodegenerative condition influenced by intricate interactions between genetic and environmental factors. It encompasses both monogenic and idiopathic forms, with a growing number of genes known to contribute to its multifaceted aetiology. However, research into Parkinson’s genetics has predominantly focused on individuals of European ancestry, limiting the applicability of findings to broader ethnic and geographic populations.

This Special Issue aims to bridge the knowledge gap in PD genetics within under-represented human populations. We aim to publish studies featuring genetic discoveries related to PD aetiology and its implications in diverse demographics. Our goal is to illuminate the intricate genetic landscape governing PD manifestation and progression.

Within this Special Issue, we will prioritise unravelling the genetic variants, mutations, and risk factors specific to under-represented populations. Understanding the differential gene expression levels associated with PD among diverse ethnicities is crucial in identifying the related biological processes and shared genomic architectures.

We invite contributions exploring any aspect related to the genetics of Parkinson’s disease across diverse populations. Structural, functional, computational, clinical, and experimental studies focusing on either familial or idiopathic PD are welcome.

Join us in this endeavour to shed light on the genetic intricacies of PD across human populations, facilitating a more inclusive and comprehensive understanding of this disease's genetic architecture and aiding in developing tailored approaches to PD management and treatment.

Dr. Miguel E Rentería
Dr. Katarzyna Smilowska
Dr. Rauan Kaiyrzhanov
Dr. Wael Mohamed Yousef Mohamed
Guest Editors

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. 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

  • Parkinson’s disease
  • human genetics
  • movement disorders
  • neurology
  • under-represented populations
  • genetic variants
  • healthcare disparities
  • molecular pathways
  • personalized medicine

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Published Papers (2 papers)

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18 pages, 1347 KiB  
Article
Population-Specific Differences in Pathogenic Variants of Genes Associated with Monogenic Parkinson’s Disease
by Victor Flores-Ocampo, Amanda Wei-Yin Lim, Natalia S. Ogonowski, Luis M. García-Marín, Jue-Sheng Ong, Dennis Yeow, Claudia Gonzaga-Jauregui, Kishore R. Kumar and Miguel E. Rentería
Genes 2025, 16(4), 454; https://doi.org/10.3390/genes16040454 - 15 Apr 2025
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Abstract
Background: Parkinson’s disease (PD) is a genetically complex neurodegenerative disorder. Up to 15% of cases are considered monogenic. However, research on monogenic PD has largely focused on populations of European ancestry, leaving gaps in our understanding of genetic variability in other populations. This [...] Read more.
Background: Parkinson’s disease (PD) is a genetically complex neurodegenerative disorder. Up to 15% of cases are considered monogenic. However, research on monogenic PD has largely focused on populations of European ancestry, leaving gaps in our understanding of genetic variability in other populations. This study addresses this gap by analysing the allele frequencies of pathogenic and likely pathogenic variants in known monogenic PD genes across eight global populations, using data from the gnomAD database. Methods: We compiled a list of 27 genes associated with Mendelian PD from the Online Mendelian Inheritance in Man (OMIM) database, and identified pathogenic and likely pathogenic variants using ClinVar. We then performed pairwise comparisons of allele frequencies across populations included in the gnomAD database. Variants with significant frequency differences were further assessed using in silico pathogenicity predictions. Results: We identified 81 variants across 17 genes with statistically significant allele frequency differences between at least two populations. Variants in GBA1 were the most prevalent among monogenic PD-related genes, followed by PLA2G6, ATP13A2, VPS13C, and PRKN. GBA1 exhibited the greatest variability in allele frequencies, particularly the NM_000157.4:c.1226A>G (p.Asn409Ser) variant. Additionally, we observed significant population-specific differences in PD-related variants, such as the NM_032409.3:c.1040T>C (p.Leu347Pro) variant in PINK1, which was most prevalent in East Asian populations. Conclusions: Our findings reveal substantial population-specific differences in the allele frequencies of pathogenic variants linked to monogenic PD, emphasising the need for broader genetic studies beyond European populations. These insights have important implications for PD research, genetic screening, and understanding the pathogenesis of PD in diverse populations. Full article
(This article belongs to the Special Issue Genetics of Parkinson’s Disease Around the World)
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Review

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18 pages, 693 KiB  
Review
A Global Perspective of GBA1-Related Parkinson’s Disease: A Narrative Review
by Christos Koros, Anastasia Bougea, Ioanna Alefanti, Athina Maria Simitsi, Nikolaos Papagiannakis, Ioanna Pachi, Evangelos Sfikas, Roubina Antonelou and Leonidas Stefanis
Genes 2024, 15(12), 1605; https://doi.org/10.3390/genes15121605 - 16 Dec 2024
Cited by 2 | Viewed by 1563
Abstract
Parkinson’s disease (PD) is considered to be the second most prominent neurodegenerative disease and has a global prevalence. Glucocerebrosidase (GBA1) gene mutations represent a significant hereditary risk factor for the development of PD and have a profound impact on the motor [...] Read more.
Parkinson’s disease (PD) is considered to be the second most prominent neurodegenerative disease and has a global prevalence. Glucocerebrosidase (GBA1) gene mutations represent a significant hereditary risk factor for the development of PD and have a profound impact on the motor and cognitive progression of the disease. The aim of this review is to summarize the literature data on the prevalence, type, and peculiarities of GBA1 mutations in populations of different ethnic backgrounds. We reviewed articles spanning the 2000–2024 period. GBA1-related PD has a worldwide distribution. It has long been recognized that pathogenic GBA1 mutations are particularly common in certain ethnic populations, including PD patients of Ashkenazi Jewish ancestry. Moreover, a considerable number of studies focused on European ancestry patients from Europe and North America have revealed a high proportion (up to 15%) of carriers among the PD population. GBA1 mutations also appear to play an important role in patient groups with an East Asian background, although the frequency of specific variants may differ as compared to those of European ancestry. Notably, the assessment of underrepresented populations in other parts of Asia (including India) and Latin America is in the spotlight of current research, while a variant with a newly described pathogenic mechanism has been reported in Sub-Saharan Africans. Given the importance of GBA1 mutations for PD genetics and clinical phenotype, a focused assessment of the prevalence and type of GBA1 variants in distinct ethnic populations will possibly inform ongoing PD-related clinical studies and facilitate upcoming therapeutic trials. Full article
(This article belongs to the Special Issue Genetics of Parkinson’s Disease Around the World)
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