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Journal article
TMEM175, SCARB2 and CTSB associations with Parkinson's disease risk across populations
NPJ Parkinson's Disease, Vol.11(1), 348
2025
PMID: 41331295
Abstract
Genome-wide association study of Parkinson's disease (PD) identified common variants associated with lysosomal mechanism, including TMEM175, SCARB2, and CTSB. We investigated the association between common and rare variants across populations using cohorts from the Global Parkinson's Genetics Program (GP2) (33,733 cases and 18,703 controls from ten ancestries). In the European cohort, we confirmed significant associations with PD risk for all known genetic risk variants across the three genes and TMEM175 p. Met393Thr as an independent genome-wide significant signal. Additionally, a novel independent signal, SCARB2 rs11547135, was detected. The burden analysis linked PD to SCARB2 in African American, Ashkenazi Jewish and East Asian cohorts. Single variants-based tests identified rare missense variants in SCARB2 in several populations. Our study reinforces the association of lysosomal genetic variants with PD risk, revealing genetic heterogeneity across populations.
Details
- Title
- TMEM175, SCARB2 and CTSB associations with Parkinson's disease risk across populations
- Authors/Creators
- Wenhua Sun - Hertie Institute for Clinical Brain ResearchClaudia Schulte - Hertie Institute for Clinical Brain ResearchThomas Gasser - Hertie Institute for Clinical Brain ResearchManuela Tan - Oslo University HospitalSulev Koks (Contributor) - Murdoch University, Personalised Medicine CentreGlobal Parkinson’s Genetic Program (GP2)
- Publication Details
- NPJ Parkinson's Disease, Vol.11(1), 348
- Publisher
- Springer Nature
- Identifiers
- 991005838966107891
- Copyright
- © The Author(s) 2025
- Murdoch Affiliation
- Murdoch University; Personalised Medicine Centre
- Language
- English
- Resource Type
- Journal article
- Note
- Sulev Koks appear as part of the Global Parkinson’s Genetic Program (GP2)
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