Sarihan, Elif Irem, Perez-Palma, Eduardo ORCID: 0000-0003-0546-5141, 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 ORCID: 0000-0003-2402-2709, 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 and Mata, Ignacio F. . Genome-Wide Analysis of Copy Number Variation in Latin American Parkinson's Disease Patients. Mov. Disord.. HOBOKEN: WILEY. ISSN 1531-8257

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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 x 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. (c) 2020 International Parkinson and Movement Disorder Society

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Sarihan, Elif IremUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Perez-Palma, EduardoUNSPECIFIEDorcid.org/0000-0003-0546-5141UNSPECIFIED
Niestroj, Lisa-MarieUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Loesch, DouglasUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Inca-Martinez, MiguelUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Horimoto, Andrea R. V. R.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Cornejo-Olivas, MarioUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Torres, LuisUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Mazzetti, PilarUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Cosentino, CarlosUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Sarapura-Castro, ElisonUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Rivera-Valdivia, AndreaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Dieguez, ElenaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Raggio, VictorUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lescano, AndresUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Tumas, VitorUNSPECIFIEDorcid.org/0000-0003-2402-2709UNSPECIFIED
Borges, VanderciUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ferraz, Henrique B.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Rieder, Carlos R.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schumacher-Schuh, Artur F.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Santos-Lobato, Bruno L.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Velez-Pardo, CarlosUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Jimenez-Del-Rio, MarleneUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lopera, FranciscoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Moreno, SoniaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Chana-Cuevas, PedroUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Fernandez, WilliamUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Arboleda, GonzaloUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Arboleda, HumbertoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Arboleda-Bustos, Carlos E.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Yearout, DoraUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Zabetian, Cyrus P.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Thornton, Timothy A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
O'Connor, Timothy D.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lal, DennisUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Mata, Ignacio F.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
URN: urn:nbn:de:hbz:38-312113
DOI: 10.1002/mds.28353
Journal or Publication Title: Mov. Disord.
Publisher: WILEY
Place of Publication: HOBOKEN
ISSN: 1531-8257
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
ALPHA-SYNUCLEIN; LEWY BODY; MUTATIONS; RISK; GENETICS; REARRANGEMENTS; DUPLICATION; FREQUENCY; VARIANTS; MODELMultiple languages
Clinical NeurologyMultiple languages
URI: http://kups.ub.uni-koeln.de/id/eprint/31211

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