Novel mitochondrial variants associated with Parkinson's disease reveal a high heteroplasmy-weighted polygenic risk score in Brazilians
Gustavo Barra Matos, Matheus Caetano Epifane-de-Assunção, Marcella Vitoria Belem-Souza, Felipe Gouvêa de Souza, Caio Santos Silva, Leticia Cota Cavaleiro de Macedo, Tatiane Piedade de Souza, Gilderlânio Santana de Araújo, Andre Vitor de Souza Fernandes, Ândrea Ribeiro‐dos‐Santos, Bruno Lopes Santos‐Lobato
The paper identifies mitochondrial variants associated with Parkinson's disease in Brazilians and develops a polygenic risk score linked to increased disease risk.
medRxiv · Jan 16, 2026 · PreprintGenetic & Genomic Medicine