Genome-wide Analysis of Copy Number Variation in Latin American Parkinson's Disease Patients
Authors:
- Elif Irem SarihanESElif Irem Sarihan
- Eduardo Perez-PalmaEPEduardo Perez-Palma
- Lisa-Marie NiestrojLNLisa-Marie Niestroj
- Douglas LoeschDLDouglas Loesch
- Miguel Inca-MartinezMIMiguel Inca-Martinez
- Andrea R. V. R. HorimotoAHAndrea R. V. R. Horimoto
- Mario Cornejo-OlivasMario Cornejo-Olivas
- Luis TorresLTLuis Torres
- Pilar MazzettiPMPilar Mazzetti
- Carlos CosentinoCCCarlos Cosentino
- Elison Sarapura-CastroESElison Sarapura-Castro
Preprint
Abstract
Background: Parkinson's disease is the second most common neurodegenerative disorder and affects people from all ethnic backgrounds, yet little is known about the genetics of Parkinson's disease in non-European populations. In addition, the overall identification of copy number variants at a genome-wide level has been understudied in Parkinson's disease patients. Objectives: To understand the genome-wide burden of copy number variants in Latinos and its association with Parkinson's disease. Methods: We used genome-wide genotyping data from 747 Parkinson's disease patients and 632 ancestry matched controls from the Latin American Research Consortium on the Genetics of Parkinson's disease. Results: Genome-wide copy number burden analysis showed no difference between patients vs. controls, whereas patients were significantly enriched for copy number variants overlapping known Parkinson's disease genes compared to controls (Odds Ratio: 3.97 [1.69 - 10.5], P = 0.018). PARK2 showed the strongest copy number burden, with 20 copy number variant carriers. These patients presented an earlier age of disease onset compared to patients with other copy number variants (median age at onset: 31 years vs. 57 years, P = 7.46 x 10-7). Conclusions: We found that Parkinson's disease patients are significantly enriched with copy number variants affecting known Parkinson's disease genes. We also identified that out of 250 patients with early-onset disease, 5.6% carried a copy number variant on PARK2 in our cohort. Our study is the first to analyze genome-wide copy number variants association in Latino Parkinson's disease patients and provides insights about this complex disease in this understudied population.Keywords
All Related Versions
- Published version: Movement Disorders, 36 (2), 434.
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