BST1 rs4698412 allelic variant increases the risk of gait or balance deficits in patients with Parkinson's disease.

Aims: We aimed to explore effects of bone marrow stromal cell antigen-1 (BST1) rs4698412 allelic variant on brain activation and associative clinical symptoms in Parkinson's disease (PD).

Methods: A total of 49 PD patients and 47 healthy control (HC) subjects were recruited for clinical evaluations, blood samples collection for genotypes, and resting-state functional MRI (rs-fMRI) scans. Based on BST1 rs4698412 allelic variant (G → A), participants were further divided into 18 PD-GG, 31 PD-GA/AA, 20 HC-GG, and 27 HC-GA/AA carriers, which respectively indicated subjects carrying ancestral or risk allele in that locus in PD or HC. Two-way analysis of covariance (ANCOVA) was applied to investigate main effects and interactions between PD and BST1 rs4698412 allelic variant on brain function via amplitude of low-frequency fluctuations (ALFF). Spearman's correlations were then utilized to detect associations between interactive brain regions and clinical symptoms.

Results: Compared to HC subjects, PD patients exhibited increased ALFF values in left cerebellum_8 and cerebellum_9. Significant interaction was in right lingual gyrus, where there were the lowest ALFF values and ALFF values were only negatively associated with Timed Up and Go (TUG) test time in PD-GA/AA subgroup.

Conclusion: BST1 rs4698412-modulated lingual gyrus functional alterations could be related to gait and balance dysfunction in PD.