Parkinson's Genetic Cohorts in China

Subjects were enrolled in the large cohort of Parkinson's Disease and Movement Disorders Multicenter Database and Collaborative Network in China (PD-MDCNC, http://www.pd-mdcnc.com/), as described in a previous study (12 (link)). Patients with PD in this cohort were diagnosed by experienced neurologists according to the UK Parkinson's Disease Scoeity (PDS) Brain Bank Criteria (13 (link)) or Movement Disorder Society Clinical Diagnostic Criteria (14 (link)). Meanwhile, neurological disease-free controls were recruited, with matched ethnicity as a reference. As indicated in our earlier study, we excluded individuals with pathogenic/likely pathogenic mutations of 23 PD pathogenic genes from the EOPD and FPD cohorts. These patients were divided into two separate cohorts, which were named according to the sequencing method as follows: (1 (link)) the whole-exome sequencing (WES) cohort, containing 1,917 familial or sporadic early-onset PD from Mainland China (mean age, 52.22 ± 9.03 years; women, 45.4%) and 1,652 race-matched healthy controls (mean age, 62.03 ± 12.59 years; women, 51.9%), and (2 (link)) the whole-genome sequencing (WGS) cohort, containing 1,962 sporadic late-onset PD from Mainland China (mean age, 66.76 ± 7.078 years; women, 49.8%) and 1,652 race-matched healthy controls (mean age, 62.32 ± 7.109 years; women, 52.1%). The WES cohort consisted of 477 familial PD probands (327 AD probands and 150 AR probands) and 1,440 patients with early-onset PD (age of onset was not more than 50 years). The WGS cohort contained patients with late-onset sporadic PD with mean age onset of 61.88 ± 6.927 years. Patients in both cohorts carrying pathogenic mutations in high-confidence PD-causing genes were excluded from the analysis. Followed by informed consent, the basic demographic data, peripheral blooding samples, and clinical features of all participants were collected. We collected total genomic DNA from peripheral blooding samples using standard procedures. The respective ethics committees of Xiangya Hospital of Central South University approved the abovementioned protocol.