Title
The distribution and risk effect of GBA variants in a large cohort of PD patients from Colombia and Peru
Date Issued
June 2019
Access level
open access
Resource Type
journal article
Publisher(s)
Elsevier Ltd
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.
Start page
204
End page
208
Volume
63
Language
English
OCDE Knowledge area
Genética humana Neurociencias
Publication version
Version of Record
Scopus EID
2-s2.0-85061336799
PubMed ID
Source
Parkinsonism and Related Disorders
ISSN of the container
1353-8020
Sponsor(s)
This project was supported by “The Committee for Development and Research” (Comite para el desarrollo y la investigación-CODI)-Universidad de Antioquia grant #2017-14466 to MJ-Del-Rio and CV-P, The Parkinson's Foundation, the American Parkinson's Disease Association and the NIH (R01 NS065070).
Sources of information: Directorio de Producción Científica Scopus