Genome‐Wide Analysis of Copy Number Variation in Latin American Parkinson's Disease Patients. Issue 2 (5th November 2020)

• Record Type: Journal Article
• Authors: Sarihan, Elif Irem; Pérez‐Palma, Eduardo; Niestroj, Lisa‐Marie; Loesch, Douglas; Inca‐Martinez, Miguel; Horimoto, Andrea R.V.R.; Cornejo‐Olivas, Mario; Torres, Luis; Mazzetti, Pilar; Cosentino, Carlos; Sarapura‐Castro, Elison; Rivera‐Valdivia, Andrea; Dieguez, Elena; Raggio, Victor; Lescano, Andres; Tumas, Vitor; Borges, Vanderci; Ferraz, Henrique B.; Rieder, Carlos R.; Schumacher‐Schuh, Artur F.; Santos‐Lobato, Bruno L.; Velez‐Pardo, Carlos; Jimenez‐Del‐Rio, Marlene; Lopera, Francisco; Moreno, Sonia; Chana‐Cuevas, Pedro; Fernandez, William; Arboleda, Gonzalo; Arboleda, Humberto; Arboleda‐Bustos, Carlos E.; Yearout, Dora; Zabetian, Cyrus P.; Thornton, Timothy A.; O'Connor, Timothy D.; Lal, Dennis; Mata, Ignacio F.;
• Other Names: Micheli Federico investigator.; Gatto Emilia investigator.; Tumas Vitor investigator.; Borges Vanderci investigator.; Ferraz Henrique B. investigator.; Rieder Carlos R.M. investigator.; Shumacher‐Schuh Artur investigator.; Santos‐Lobato Bruno L. investigator.; Chaná Pedro investigator.; Velez‐Pardo Carlos investigator.; Jimenez‐Del‐Rio Marlene investigator.; Lopera Francisco investigator.; Arboleda Gonzalo investigator.; Arboleda Humberto investigator.; Orozco Jorge Luis investigator.; Moreno Sonia investigator.; Fernandez William investigator.; Arboleda‐Bustos Carlos E. investigator.; Fornaguera Jaime investigator.; Guillén Alvaro Hernández investigator.; Acosta Gabriel Torrealba investigator.; Chang‐Castello Jorge investigator.; Muñoz Brennie Andreé investigator.; Medina Alex investigator.; Ferrera Anabelle investigator.; Martinez‐Ramirez Daniel investigator.; Rodriguez Mayela investigator.; Cornejo‐Olivas Mario investigator.; Mazzetti Pilar investigator.; Sarapura Hugo investigator.; Rivera Andrea investigator.; Torres Luis investigator.; Cosentino Carlos investigator.; Medina Angel investigator.; Viñuela Angel investigator.; Dieguez Elena investigator.; Raggio Victor investigator.; Lescano Andres investigator.; Amorin Ignacio investigator.;
• Is Part Of: Movement disorders. Volume 36:Issue 2(2021)
• Page Start: 434
• Page End: 441
• Publication Date: 2020-11-05
• Subjects: Parkinson's disease -- genetics -- copy number variants -- Latin America; Movement disorders -- Periodicals; 610
• DOI: 10.1002/mds.28353
• Languages: English
• ISSNs: 0885-3185

Abstract

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 patients. The objective of this study was 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 controls from the Latin American Research Consortium on the Genetics of Parkinson's disease. Results: Genome‐wide copy number burden analysis showed that patients were significantly enriched for copy number variants overlapping known Parkinson's disease genes compared with controls (odds ratio, 3.97; 95%CI, 1.69–10.5; P = 0.018). PRKN showed the strongest copy number burden, with 20 copy number variant carriers. These patients presented an earlier age of disease onset compared with patients with other copy number variants (median age at onset, 31 vs 57 years, respectively; P = 7.46 × 10 −7 ). Conclusions: 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