Experiment: Multi-Ethnic PD GWAS

SUMMARY

# Experiment: Multi-Ethnic PD GWAS ## Background and Rationale This multi-ethnic genome-wide association study represents a pivotal advancement in Parkinson's disease genetics research, addressing one of the most significant limitations in our current understanding of this complex neurodegenerative disorder. Parkinson's disease affects over 10 million individuals worldwide, with its prevalence rapidly increasing as populations age globally. However, the vast majority of genetic discoveries have

METHODOLOGY NOTES

**Phase 1: Study Design and Population Recruitment (Months 1-18)** • Recruit 25,000 PD cases and 50,000 controls across 5 major ancestry groups: European (40%), African/African-American (20%), East Asian (20%), Hispanic/Latino (15%), and South Asian (5%) • Establish standardized diagnostic criteria using Movement Disorder Society Clinical Diagnostic Criteria for PD • Collect detailed phenotypic data including age of onset, motor symptoms (UPDRS-III scores), cognitive assessments (MoCA), and medication history • Obtain informed consent and ethical approvals from institutional review boards across participating centers • Collect high-quality DNA samples (blood or saliva) with minimum concentration 50 ng/μL **Phase 2: Genotyping and Quality Control (Months 12-24)** • Perform genome-wide genotyping using Illumina Global Screening Array v3.0 or equivalent platform • Implement stringent quality control: exclude SNPs with call rate <95%, minor allele frequency <0.01, Hardy-Weinberg equilib