Background: While the BST1 rs4698412 variant demonstrates a robust association with Parkinson's disease (PD) susceptibility, its role in modulating PD progression remains unexplored.
Objectives: To evaluate differences in the progression of motor symptoms and cognitive function between PD patients carrying the BST1 rs4698412 A-allele variant and GG homozygotes.
Methods: Baseline clinical data were collected during their initial visits. Disease severity was assessed using the UPDRS-III scale, while cognitive status was evaluated through the MMSE scale. Follow-up visits were conducted at the same center. Linear mixed-effects models were utilized to compare the rate of changes in motor and cognitive features between the two groups.
Results: A total of 182 PD patients with 74 classified as GG carriers and 108 as GA/AA carriers were enrolled. No significant differences were observed in baseline demographic factors or clinical characteristics. Linear mixed-effects models revealed that GA/AA carriers exhibited a greater rate of change in UPDRS-III score compared with GG carriers (difference of -2.091[0.691] points per year, P = 0.003). However, no statistically significant difference in the estimated progression rate of MMSE score was found between the two groups (difference of -0.106 [0.217] points per year, P = 0.627).
Conclusion: PD patients carrying the BST1 rs4698412 A-allelic variant showed more pronounced motor function deterioration than GG carriers, suggesting that BST1 rs4698412 may serve as a genetic risk factor for disease progression in PD.
Keywords: BST1 rs4698412; Parkinson’s disease; cognition; genetic risk; motor progression; neurodegeneration.
Copyright © 2025 Xu, Yang, Chen, Li, Cai, Wang, Weng, Lin, Jian, Chen and Ye.
