medRxivGenetic & Genomic MedicinePreprint
Genetic characterization of Parkinsons Disease in a Chilean cohort
Paula Saffie AwadiD, Peter Wild CreaiD, Spencer M. GrantiD, Paul Suhwan LeeiD, Thiago Peixoto LealiD, Daniel Teixeira dos SantosiD, Fulya AkçimeniD, Marzieh KhaniiD, Emily WaldoiD, Ximena Pizarro-CorreaiD, Ernesto Solís-ÁñeziD, Cornelis BlauwendraatiD, Andrew SingletoniD, Christine KleiniD, Sara Bandrés‐CigaiD, Ignacio Fernandez MataiD, Miguel Inca‐MartineziD, Artur Francisco Schumacher SchuhiD, Pedro Chaná‐CuevasiD
Abstract
The genetics of Parkinsons disease (PD) in underrepresented populations remain poorly characterized, potentially overlooking population-specific contributions. We analyzed 461 Chilean PD cases from a movement disorders center. Pathogenic, likely pathogenic, or GBA1 risk variants were identified in 58 individuals (12.6%), mainly in LRRK2 (50%) and GBA1 (44.8%), while PRKN, SNCA, and SQSTM1 collectively represented 5.2%. All LRRK2 variants were p.G2019S, with an overall frequency of 6.3%, the highest reported in South America, and enrichment of Ashkenazi Jewish ancestry at this locus. These findings characterize the genetic landscape of PD in Chile and support its relevance for LRRK2-targeted studies.
- organism: human
- assay: whole-exome sequencing
- research focus: variant calling
- approach: statistical model
- Citations
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