Gaucher Hastalığında Parkinsonizm Risk Değiştirici Olarak Polijenik Parkinson Hastalığı Genetik Risk Puanı.

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BackgroundBiallelic pathogenic variants in GBA1 are the cause of Gaucher disease (GD) type 1 (GD1), a lysosomal storage disorder resulting from deficient glucocerebrosidase. Heterozygous GBA1 variants are also a common genetic risk factor for Parkinson's disease (PD). GD manifests with considerable clinical heterogeneity and is also associated with an increased risk for PD.ObjectiveThe objective of this study was to investigate the contribution of PD risk variants to risk for PD in patients with GD1.MethodsWe studied 225 patients with GD1, including 199 without PD and 26 with PD. All cases were genotyped, and the genetic data were imputed using common pipelines.ResultsOn average, patients with GD1 with PD have a significantly higher PD genetic risk score than those without PD (P = 0.021).ConclusionsOur results indicate that variants included in the PD genetic risk score were more frequent in patients with GD1 who developed PD, suggesting that common risk variants may affect underlying biological pathways. © 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society. This article has been contributed to by U.S. Government employees and their work is in the public domain in the USA.

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