Genetic analysis of P387L mutation in SLC18A2 gene in sporadic Parkinson's disease in Chinese Han population / 中南大学学报(医学版)

ABSTRACT

OBJECTIVE@#To investigate whether the mutation of P387L in SLC18A2 gene is a cause for sporadic Parkinson's disease (PD) in Chinese Han population.
@*METHODS@#A total of 931 subjects (455 sporadic PD patients and 476 healthy controls) were enrolled in our study. SLC18A2 P387L was genotyped by matrix-assisted laser desorption/ionization-time-of-flight mass spectrometry (MALDI-TOF MS) and the results were verified by Sanger sequencing. Furthermore, a case-control study was used to investigate the relationship between the mutation and sporadic PD.
@*RESULTS@#There was no mutation in any of the 931 individuals.
@*CONCLUSION@#The P387L mutation in SLC18A2 gene is rare in Chinese Han population, and P387L might not be a cause for Chinese sporadic PD. However, the role of this mutation in PD needs to be further verified through replication studies with large number of subjects and different population.