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Keywords:

  • China;
  • glucocerebrosidase;
  • N370S;
  • Parkinson’s disease

Background and purpose:  Mutations in the glucocerebrosidase (GBA) gene have been implicated in the development of Parkinson’s disease (PD). However, recent screenings for GBA mutations in PD subjects from different ethnic populations have yielded contradictory results.

Methods:  We performed a case–control study to look for a possible association between PD and the GBA N370S allele involving 628 subjects in two separate Chinese Han populations from mainland China. All subjects were successfully genotyped by polymerase chain reaction–restriction fragment length polymorphism analysis.

Results:  A total of six patients with PD and two control subjects carried the N370S allele. Although PD cases (1.8%) had an increased frequency of N370S compared to controls (0.7%), the difference was not statistically significant (= 0.290). However, when PD cases were stratified by age at onset, a higher frequency of N370S in late-onset PD (LOPD) cases (3.2%) compared to controls was observed.

Conclusions:  Our results suggest that the N370S allele might be associated with LOPD in Chinese Han population and that this phenomenon should be further examined in a larger study.