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To the Editor:
Nichols et al.1 further examine the association between mutations in glucocerebrosidase (GBA) gene and Parkinson disease (PD) but the data may be misleading.
Studies in diverse cohorts indicate that mutations in GBA confer an increased risk for the development of parkinsonism.2 This study on familial PD examined 1,325 cases from 566 multiplex families and 359 controls, concluding that the unbiased frequency of GBA alterations in patients was 12.6% vs 5.3% in controls. However, the screening methods and definition of GBA mutations may not be accurate.
First, the authors sequenced a subset of 96 subjects identified by their nonparametric lod score using markers surrounding GBA. Without sequencing another sample that did not meet these criteria, they have not shown that using this shortcut is more likely to yield mutations. Moreover, control subjects were not sequenced. In non-Ashkenazi Jewish cohorts, sequencing of GBA is essential to accurately ascertain mutation frequency.
For example, our sequencing of 188 controls in the Coriell plates used in this study, NDPT002 and NDPT006, identified 2 N370S alleles, 1 L444P, 2 rare alleles E388K and D443N, and 5 with polymorphism E326K, demonstrating that the genotypes of the controls reported in this study are incomplete. Furthermore, in table 2, the exonic designations are incorrect and …
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