This was a pioneering study, because it was the first genome-wide association study (GWAS) to delve into the genetics of PD in people from African and African admixed populations.1 The GWAS sourced genome data from the International Parkinson’s Disease Genomics Consortium Africa (IPDGC Africa), the Global Parkinson’s Genetics Program (GP2), and from the company 23andMe.1 The analysis identified a novel risk factor in the glucocerebrosidase gene, one that had not been found in similar analyses of European populations.1 This reinforces the importance of diversity, including ethnic diversity, in research into PD.1,4
References:
1.Rizig M, Bandres-Ciga S, Makarious MB, et al.; Nigeria Parkinson Disease Research Network; International Parkinson’s Disease Genomics Consortium Africa; Black and African American Connections to Parkinson’s Disease Study Group; 23andMe Research Team; Global Parkinson’s Genetics Program. Identification of genetic risk loci and causal insights associated with Parkinson’s disease in African and African admixed populations: a genome-wide association study. Lancet Neurol 2023; 22 (11): 1015–1025.
2.GeneCards. GBA1. Available at: https://www.genecards.org/cgi-bin/carddisp.pl?gene=GBA1. Accessed September 2024.
3.Álvarez Jerez P, Wild Crea PA, Ramos DM, et al. African ancestry neurodegeneration risk variant disrupts an intronic branchpoint in GBA1. Nat Struct Mol Biol 2024; 31 (12): 1955–1963.
4.Lim SY, Tan AH, Ahmad-Annuar A, et al. Uncovering the genetic basis of Parkinson’s disease globally: from discoveries to the clinic. Lancet Neurol 2024; 23 (12): 1267–1280.
