Genetic risk loci for Parkinson's disease and dementia in a large-scale population-based Taiwanese cohort (TPMI) - PubMed
2 days ago
- #Parkinson's disease
- #Genome-wide association study
- #Dementia
- Study investigates genetic risk factors for Parkinson's disease (PD) and PD dementia (PDD) in a large Taiwanese cohort.
- Conducted a two-stage GWAS with meta-analysis, identifying known PD loci (SNCA, LRRK2) and new risk variants near HLA, AOAH-ELMO1, etc.
- Polygenic risk score (PRS) models achieved 70% accuracy in distinguishing PD cases from controls.
- Identified PRDM15 rs141772267 as a novel PDD risk variant with high hazard ratio (HR = 4.20).
- Carriers of two or more minor risk alleles showed significantly increased risk of progression to PDD.
- Findings highlight shared and ethnicity-specific PD risk loci, suggesting PRDM15's role in PDD.
- Calls for further multi-ethnic and functional studies to validate findings.