Genome-Wide Analysis of Copy Number Variation in Latin American Parkinson's Disease Patients.
Elif Irem SarihanEduardo Pérez-PalmaLisa-Marie NiestrojDouglas LoeschMiguel Inca-MartinezAndrea R V R HorimotoMario Cornejo-OlivasLuis TorresPilar MazzettiCarlos CosentinoElison Sarapura-CastroAndrea Rivera-ValdiviaElena DieguezVictor RaggioAndres LescanoVitor TumasVanderci BorgesHenrique Ballalai FerrazCarlos R RiederArtur F Schumacher-SchuhBruno L Santos-LobatoCarlos Velez-PardoMarlene Jimenez-Del-RioFrancisco LoperaSonia MorenoPedro Chana-CuevasWilliam FernandezGonzalo ArboledaHumberto ArboledaCarlos E Arboleda-BustosDora YearoutCyrus P ZabetianTimothy A ThorntonTimothy D O'ConnorDennis LalIgnacio Fernandez Matanull nullPublished in: Movement disorders : official journal of the Movement Disorder Society (2020)
We found that although overall genome-wide copy number variant burden was not significantly different, Parkinson's disease patients were significantly enriched with copy number variants affecting known Parkinson's disease genes. We also identified that of 250 patients with early-onset disease, 5.6% carried a copy number variant on PRKN in our cohort. Our study is the first to analyze genome-wide copy number variant association in Latino Parkinson's disease patients and provides insights about this complex disease in this understudied population. © 2020 International Parkinson and Movement Disorder Society.