Imaging genetics approach to Parkinson’s disease and its correlation with clinical score

Parkinson's disease (PD) is a progressive neurodegenerative disorder associated with both underlying genetic factors and neuroimaging findings. Existing neuroimaging studies related to the genome in PD have mostly focused on certain candidate genes. The aim of our study was to construct a linear regression model using both genetic and neuroimaging features to better predict clinical scores compared to conventional approaches. We obtained neuroimaging and DNA genotyping data from a research database. Connectivity analysis was applied to identify neuroimaging features that could differentiate between healthy control (HC) and PD groups. A joint analysis of genetic and imaging information known as imaging genetics was applied to investigate genetic variants. We then compared the utility of combining different genetic variants and neuroimaging features for predicting the Movement Disorder Society-sponsored unified Parkinson's disease rating scale (MDS-UPDRS) in a regression framework. The associative cortex, motor cortex, thalamus, and pallidum showed significantly different connectivity between the HC and PD groups. Imaging genetics analysis identified PARK2, PARK7, HtrA2, GIGYRF2, and SNCA as genetic variants that are significantly associated with imaging phenotypes. A linear regression model combining genetic and neuroimaging features predicted the MDS-UPDRS with lower error and higher correlation with the actual MDS-UPDRS compared to other models using only genetic or neuroimaging information alone.