Objective: To perform the largest PD risk genome-wide association study (GWAS) in the African and African admixed populations.

Background:

Investigating the genetic foundation of Parkinson’s disease (PD) in ancestrally diverse populations is essential for advancing precision medicine globally. The dearth of diversity in research studies can hinder the generalizability of findings and exacerbate existing healthcare disparities.

Method:

We performed a GWAS meta-analysis for PD in 2,199 PD cases and 317,323 controls of African or African admixed ancestry. Further analyses included population-specific risk haplotype, fine-mapping assessments, follow-up functional inferences. Additionally, clinical-genetic risk correlations were examined in relation to age at onset, REM sleep behavior disorder scores, and cognitive impairment using the Identification of Dementia in Elderly Africans (IDEA) cognitive screen.

Results:

In addition to the previously discovered ancestry-specific GBA1 intronic variant (rs3115534-G), our analyses nominated SNCA as a key genome-wide contributor to the risk of PD in African and African admixed populations. Ancestry-specific genetic variation in SNCA uncovered intriguing genetic patterns associated with PD and potentially Lewy Body Dementia. Quantitative trait locus analyses offered new mechanistic insights into the risk associated with PD at the SNCA locus.

Conclusion:

The genetic diversity of African and African admixed groups provide an ideal context for mapping intricate traits and uncovering unique patterns of risk.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/the-genetic-landscape-of-parkinsons-disease-in-african-and-admixed-populations-discovering-population-specific-risk-and-unveiling-etiological-insights/