Population-Specific Differences in Pathogenic Variants of Genes Associated with Monogenic Parkinson’s Disease

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.

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Publication Details

Journal
Genes
Published
2025-04-15
DOI
https://doi.org/10.3390/genes16040454
Citations
4
Primary Topic
Neurological diseases and metabolism
Type
article
Field-Weighted Citation Impact
3.37

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article

Population-Specific Differences in Pathogenic Variants of Genes Associated with Monogenic Parkinson’s Disease

Luis M. García‐Marín, Wei Yin Lim, Miguel E. Rentería, Natalia Ogonowski et al.
4 citations
Genes
Neurological diseases and metabolism
3.37
article

Population-Specific Differences in Pathogenic Variants of Genes Associated with Monogenic Parkinson’s Disease

Luis M. García‐Marín, Wei Yin Lim, Miguel E. Rentería, Natalia Ogonowski, Victor Flores‐Ocampo, Jue‐Sheng Ong, Kishore Raj Kumar, Claudia Gonzaga‐Jauregui, Dennis Yeow
article en
4 citations

Abstract

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.

GenesVol. 16(4)
The University of Sydney (AU), Garvan Institute of Medical Research (AU), Queensland University of Technology (AU), The University of Queensland (AU), QIMR Berghofer Medical Research Institute (AU), Concord Repatriation General Hospital (AU), UNSW Sydney (AU), St Vincent's Health (AU), Neuroscience Research Australia (AU), Universidad Nacional Autónoma de México (MX)
Medical Research Council, National Health and Medical Research Council
Good health and well-being
Openalex Percentile: Top 8%
Neurological diseases and metabolism
3.37
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Population-Specific Differences in Pathogenic Variants of Genes Associated with Monogenic Parkinson’s Disease — Luis M. García‐Marín, Wei Yin Lim, et al. · Genes (2025) | TGRS Research Map | TGRS