{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T20:41:06Z","timestamp":1792788066790,"version":"4.5.0"},"reference-count":61,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2025,4,15]],"date-time":"2025-04-15T00:00:00Z","timestamp":1744675200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Background: Parkinson\u2019s 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&gt;G (p.Asn409Ser) variant. Additionally, we observed significant population-specific differences in PD-related variants, such as the NM_032409.3:c.1040T&gt;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.<\/jats:p>","DOI":"10.3390\/genes16040454","type":"journal-article","created":{"date-parts":[[2025,4,15]],"date-time":"2025-04-15T09:41:11Z","timestamp":1744710071000},"page":"454","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Population-Specific Differences in Pathogenic Variants of Genes Associated with Monogenic Parkinson\u2019s Disease"],"prefix":"10.3390","volume":"16","author":[{"given":"Victor","family":"Flores-Ocampo","sequence":"first","affiliation":[{"name":"Brain & Mental Health Program, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia"},{"name":"School of Biomedical Sciences, Faculty of Health, Medicine and Behavioural Sciences, The University of Queensland, Brisbane, QLD 4072, Australia"},{"name":"Laboratorio Internacional de Investigaci\u00f3n sobre el Genoma Humano, Universidad Nacional Aut\u00f3noma de M\u00e9xico, Juriquilla 76230, Quer\u00e9taro, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2612-0604","authenticated-orcid":false,"given":"Amanda Wei-Yin","family":"Lim","sequence":"additional","affiliation":[{"name":"Brain & Mental Health Program, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia"},{"name":"School of Biomedical Sciences, Faculty of Health, Medicine and Behavioural Sciences, The University of Queensland, Brisbane, QLD 4072, Australia"},{"name":"Population Health Program, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natalia S.","family":"Ogonowski","sequence":"additional","affiliation":[{"name":"Brain & Mental Health Program, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia"},{"name":"School of Biomedical Sciences, Faculty of Health, Medicine and Behavioural Sciences, The University of Queensland, Brisbane, QLD 4072, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luis M.","family":"Garc\u00eda-Mar\u00edn","sequence":"additional","affiliation":[{"name":"Brain & Mental Health Program, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia"},{"name":"School of Biomedical Sciences, Faculty of Health, Medicine and Behavioural Sciences, The University of Queensland, Brisbane, QLD 4072, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jue-Sheng","family":"Ong","sequence":"additional","affiliation":[{"name":"Population Health Program, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dennis","family":"Yeow","sequence":"additional","affiliation":[{"name":"Molecular Medicine Laboratory, Concord Repatriation General Hospital, Concord, NSW 2139, Australia"},{"name":"Neurology Department, Concord Repatriation General Hospital, Concord, NSW 2139, Australia"},{"name":"Sydney Medical School, University of Sydney, Camperdown, NSW 2050, Australia"},{"name":"Translational Neurogenomics Group, Genomics and Inherited Disease Program, Garvan Institute of Medical Research, Darlinghurst, NSW 2010, Australia"},{"name":"Neuroscience Research Australia, Randwick, NSW 2031, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4667-3679","authenticated-orcid":false,"given":"Claudia","family":"Gonzaga-Jauregui","sequence":"additional","affiliation":[{"name":"Laboratorio Internacional de Investigaci\u00f3n sobre el Genoma Humano, Universidad Nacional Aut\u00f3noma de M\u00e9xico, Juriquilla 76230, Quer\u00e9taro, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3482-6962","authenticated-orcid":false,"given":"Kishore R.","family":"Kumar","sequence":"additional","affiliation":[{"name":"Molecular Medicine Laboratory, Concord Repatriation General Hospital, Concord, NSW 2139, Australia"},{"name":"Neurology Department, Concord Repatriation General Hospital, Concord, NSW 2139, Australia"},{"name":"Sydney Medical School, University of Sydney, Camperdown, NSW 2050, Australia"},{"name":"Translational Neurogenomics Group, Genomics and Inherited Disease Program, Garvan Institute of Medical Research, Darlinghurst, NSW 2010, Australia"},{"name":"School of Clinical Medicine, UNSW Medicine & Health, St Vincent\u2019s Healthcare Clinical Campus, Faculty of Medicine and Health, UNSW Sydney, Sydney, NSW 2033, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4626-7248","authenticated-orcid":false,"given":"Miguel E.","family":"Renter\u00eda","sequence":"additional","affiliation":[{"name":"Brain & Mental Health Program, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia"},{"name":"School of Biomedical Sciences, Faculty of Health, Medicine and Behavioural Sciences, The University of Queensland, Brisbane, QLD 4072, Australia"},{"name":"School of Biomedical Sciences, Faculty of Health, Queensland University of Technology, Brisbane, QLD 4059, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,4,15]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1146\/annurev-pathmechdis-031521-034145","article-title":"Genetics and Pathogenesis of Parkinson\u2019s Syndrome","volume":"18","author":"Ye","year":"2023","journal-title":"Annu. 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