Background: Mutations in the leucine-rich repeat kinase 2 (LRRK2) gene have been reported to be responsible for autosomal dominant late-onset sporadic Parkinson's disease (PD). The R1628P and G2385R polymorphisms of the LRRK2 gene have been identified as exclusively associated with PD in Asian populations, particularly in Han Chinese population. Considering that there is overlap of the clinical manifestations and pathological characteristics between PD and MSA, we studied the possible associations between R1628P and G2385R polymorphisms of the LRRK2 and MSA in a population of Han Chinese patients.
Methods And Patients: A total of 318 MSA patients and 350 unrelated age- and sex-matched healthy controls (HCs) were included in the study. All subjects were genotyped for R1628P and G2385R using polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) analysis and direct sequencing.
Results: No significant differences were observed in the genotype distribution and minor allele frequency (MAF) of R1628P between MSA patients and HCs (P = 0.418 and P = 0.424), between MSA-C and HCs (P = 0.347 and P = 0.353), between MSA-P and HCs (P = 0.787 and P = 0.790), and between MSA-C and MSA-P (P = 0.606 and P = 0.610). In addition, no significant differences were also observed in the genotype distribution and MAF of G2385R between MSA patients and HCs (P = 0.141 and P = 0.051), between MSA-C and HCs (P = 0.061 and P = 0.065), between MSA-P and HCs (P = 0.184 and P = 0.158), and between MSA-C and MSA-P (P = 0.354 and P = 0.853).
Conclusion: The present study suggests that R1628P and G2385R polymorphisms of the LRRK2 are not risk factors for MSA in the Han Chinese population.
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