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The distribution and risk effect of GBA variants in a large cohort of PD patients from Colombia and Peru

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dc.contributor.author Velez-Pardo, Carlos
dc.contributor.author Lorenzo-Betancor, Oswaldo
dc.contributor.author Jimenez-Del-Rio, Marlene
dc.contributor.author Moreno, Sonia
dc.contributor.author Lopera, Francisco
dc.contributor.author Cornejo-Olivas, Mario
dc.contributor.author Torres, Luis
dc.contributor.author Inca-Martinez, Miguel
dc.contributor.author Mazzetti, Pilar
dc.contributor.author Cosentino, Carlos
dc.contributor.author Yearout, Dora
dc.contributor.author Waldherr, Sarah M.
dc.contributor.author Zabetian, Cyrus P.
dc.contributor.author Mata, Ignacio F.
dc.date.accessioned 2019-07-04T17:01:21Z
dc.date.available 2019-07-04T17:01:21Z
dc.date.issued 2019
dc.identifier.uri https://hdl.handle.net/20.500.12866/6921
dc.description.abstract Background: Mutations in the glucocerebrosidase (GBA) gene are an important risk factor for Parkinson's disease (PD). However, most GBA genetic studies in PD have been performed in patients of European origin and very few data are available in other populations. Methods: We sequenced the entire GBA coding region in 602 PD patients and 319 controls from Colombia and Peru enrolled as part of the Latin American Research Consortium on the Genetics of Parkinson's disease (LARGE-PD). Results: We observed a significantly higher proportion of GBA mutation carriers in patients compared to healthy controls (5.5% vs 1.6%; OR = 4.3, p = 0.004). Interestingly, the frequency of mutations in Colombian patients (9.9%) was more than two-fold greater than in Peruvian patients (4.2%) and other European-derived populations reported in the literature (4–5%). This was primarily due to the presence of a population-specific mutation (p.K198E) found only in the Colombian cohort. We also observed that the age at onset was significantly earlier in GBA carriers when compared to non-carriers (47.1 ± 14.2 y vs. 55.9 ± 14.2 y; p = 0.0004). Conclusion: These findings suggest that GBA mutations are strongly associated with PD risk and earlier age at onset in Peru and Colombia. The high frequency of GBA carriers among Colombian PD patients (∼10%) makes this population especially well-suited for novel therapeutic approaches that target GBA-related PD. en_US
dc.language.iso eng
dc.publisher Elsevier
dc.relation.ispartof urn:issn:1353-8020
dc.rights info:eu-repo/semantics/restrictedAccess
dc.rights.uri https://creativecommons.org/licenses/by-nc-nd/4.0/deed.es
dc.subject adult en_US
dc.subject aged en_US
dc.subject Article en_US
dc.subject cohort analysis en_US
dc.subject Colombia en_US
dc.subject controlled study en_US
dc.subject female en_US
dc.subject Gaucher's disease en_US
dc.subject GBA en_US
dc.subject GBA gene en_US
dc.subject gene frequency en_US
dc.subject gene location en_US
dc.subject gene mutation en_US
dc.subject gene sequence en_US
dc.subject genetic risk en_US
dc.subject genetic variability en_US
dc.subject Genetics en_US
dc.subject Glucocerebrosidase en_US
dc.subject glucosylceramidase en_US
dc.subject heterozygote en_US
dc.subject human en_US
dc.subject major clinical study en_US
dc.subject male en_US
dc.subject mutation rate en_US
dc.subject onset age en_US
dc.subject Parkinson disease en_US
dc.subject Parkinson's disease en_US
dc.subject Peru en_US
dc.subject population genetics en_US
dc.subject priority journal en_US
dc.title The distribution and risk effect of GBA variants in a large cohort of PD patients from Colombia and Peru en_US
dc.type info:eu-repo/semantics/article
dc.identifier.doi https://doi.org/10.1016/j.parkreldis.2019.01.030
dc.subject.ocde https://purl.org/pe-repo/ocde/ford#3.02.00 es_PE

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