Association of Asian Parkinson's Disease risk variant rs9638616 with brain structural and functional changes

Motivation: The genetic variant rs9638616, is associated with Parkinson’s Disease (PD) risk in Asian populations. Goal(s): To provide insight into the neural correlates of rs9638616 in Asian PD, to inform risk models and idiopathic PD aetiology. Approach: Using imaging and genotyping data from 116 early-PD patients and 57 controls of Chinese ethnicity, we performed voxelwise analyses to assess rs9638616 T-allele association with brain microstructure, morphology and function. Results: Our results suggest that rs9638616 may confer PD risk in Asian cohorts via lower white matter fractional anisotropy and reduced supplementary motor area functional connectivity. Impact: In an imaging-genetics analysis, the Asian PD risk variant rs9638616 was associated with altered brain structure/function. This rationalises rs9638616’s role in PD risk, and may be useful in improving PD stratification and risk modeling.