The GBA variant E326K is associated with Parkinson's disease and explains a genome-wide association signal

@article{BergeSeidl2017TheGV,
  title={The GBA variant E326K is associated with Parkinson's disease and explains a genome-wide association signal},
  author={Victoria Berge-Seidl and Lasse Pihlstr{\o}m and Jodi Maple-Gr{\o}dem and Lars Forsgren and Mathias Toft},
  journal={Neuroscience Letters},
  year={2017},
  volume={658},
  pages={48-52}
}
OBJECTIVE Coding variants in the GBA gene have been identified as the numerically most important genetic risk factors for Parkinson's disease (PD). In addition, genome-wide association studies (GWAS) have identified associations with PD in the SYT11-GBA region on chromosome 1q22, but the relationship to GBA coding variants have remained unclear. The aim of this study was to sequence the complete GBA gene in a clinical cohort and to investigate whether coding variants within the GBA gene may be… CONTINUE READING

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