Parkinson’s Disease Genetics Across Diverse Ancestries: An Observational Genetic Study of Causal and Risk Variants with Translational Implications

Distinct causal and risk genetic variants for Parkinson’s disease exhibit substantial variation across ancestries, with Ashkenazi Jewish and African ancestries showing marked differences in variant frequencies.
Risk variants in GBA1 and LRRK2 are prevalent across diverse populations but show ancestry-specific enrichment patterns influencing disease risk and therapeutic targeting.
Carriers of biallelic PRKN causal variants, including copy number variants, were detected across most ancestries, underscoring the need to consider structural variants in genetic screening.
Expanding genetic studies beyond European cohorts is essential for improving diagnostic precision and equitable development and application of genotype-driven Parkinson’s disease therapies.

This article was created using several editorial tools, including AI, as part of the process. Human editors reviewed this content before publication.

Distinct causal and risk genetic variants for Parkinson’s disease exhibit substantial variation across ancestries, with Ashkenazi Jewish and African ancestries showing marked differences in variant frequencies.
Risk variants in GBA1 and LRRK2 are prevalent across diverse populations but show ancestry-specific enrichment patterns influencing disease risk and therapeutic targeting.
Carriers of biallelic PRKN causal variants, including copy number variants, were detected across most ancestries, underscoring the need to consider structural variants in genetic screening.
Expanding genetic studies beyond European cohorts is essential for improving diagnostic precision and equitable development and application of genotype-driven Parkinson’s disease therapies.

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