Genetic analysis of P387L mutation in SLC18A2 gene in sporadic Parkinson's disease in Chinese Han population.
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.


CONCLUSIONS
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.
Department of Neurology, Xiangya Hospital, Central South University, Changsha 410008, China.
Jifeng
J
Kang
Department of Neurology, Xiangya Hospital, Central South University, Changsha 410008; State Key Laboratory of Medical Genetics, Changsha 410078; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Changsha 410008, China.
Beisha
B
Tang
Department of Neurology, Xiangya Hospital, Central South University, Changsha 410008, China.
Kai
K
Li
Department of Neurology, Xiangya Hospital, Central South University, Changsha 410008, China.
Zhenhua
Z
Liu
Department of Neurology, Xiangya Hospital, Central South University, Changsha 410008; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Changsha 410008, China.
Xinxiang
X
Yan
Department of Neurology, Xiangya Hospital, Central South University, Changsha 410008; State Key Laboratory of Medical Genetics, Changsha 410078; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Changsha 410008, China.
Jifeng
J
Guo
D044466:Asian People / Q000235:genetics*; D016022:Case-Control Studies; D002681:China; D005838:Genotype; D006801:Humans; D009154:Mutation; D010300:Parkinson Disease / Q000235:genetics*; D019032:Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization; D050493:Vesicular Monoamine Transport Proteins / Q000235:genetics*
C493452:SLC18A2 protein, human; D050493:Vesicular Monoamine Transport Proteins