ArticlemedRxiv : the preprint server for health sciences2025
Genome-wide association analyses reveal susceptibility variants linked to Parkinson's disease in the South African population using inferred global and local ancestry.
Article in medRxiv : the preprint server for health sciences, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Genome-wide association studies (GWAS) have been successful in identifying over 100 loci associated with Parkinson's disease (PD) susceptibility. However, the majority of these studies have focused on European cohorts with few including diverse ancestries. Using genotyped and imputed data from 691 South African PD cases and 826 controls, we conducted a conventional GWAS, two local ancestry GWAS (LA-GWAS) approaches (one using local ancestry as a covariate and the other separating the dosage per ancestry), and an association analysis to identify regions of homozygosity associated with PD status. Furthermore, we replicated these findings using another admixed population, a Latin American cohort (LARGE-PD). The ancestry inference suggested that the South African cohort is admixed from five populations, including African (AFR), European (EUR), Malaysian (MAL), Nama (NAMA), and South Asian (SAS), though with varying accuracy levels. The conventional GWAS successfully identified one locus (rs17098735-T) with genome-wide significance (p-value: 1.23×10
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