Most recent publications
The overall identification of copy number variants (CNV) at a genome-wide level has been understudied in PD patients since most studies only screen a few known PD genes. Here we used genome-wide genotyping data from 747 PD patients and 632 ancestry matched controls from LARGE-PD to understand the genome-wide burden of copy number variants in Latinos and its association with disease:
The distribution and risk effect of GBA variants in a large cohort of PD patients from Colombia and Peru.Velez-Pardo C, Lorenzo-Betancor O, Jimenez-Del-Rio M, Moreno S, Lopera F, Cornejo-Olivas M, Torres L, Inca-Martinez M, Mazzetti P, Cosentino C, Yearout D, Waldherr SM, Zabetian CP, Mata IF. Parkinsonism Relat Disord.2019 Jun;63:204-208. doi: 10.1016/j.parkreldis.2019.01.030.Epub 2019 Feb 4.
GBA is the most important risk factor for PD, however little is known about its effects on Latinos. Here we screened 602 PD patients and 319 controls from Colombia and Peru. The key findings were:
Mutations located in codons G2019 and R1441 of the leucine-rich repeat kinase 2 (LRRK2) gene represent the most common genetic cause of PD in patients of European origin. Here, we show that, in the LARGE-PD cohort, the combined frequency of these LRRK2 mutations varies substantially across countries in Latin America and is directly correlated with the estimated proportion of European ancestry at each site. This indicates that the genetic architecture of PD might differ between Latinos and other population groups, as it has been shown in several other diseases, including cancer