Replication of a Novel Parkinson's Locus in a European Ancestry Population

Sandeep Grover, Ashwin Ashok Kumar-Sreelatha, Dheeraj R. Bobbili, Patrick May, Cloé Domenighetti, Pierre Emmanuel Sugier, Claudia Schulte, Alexis Elbaz, Rejko Krüger, Thomas Gasser, Manu Sharma, COURAGE-PD Consortium, COURAGE-PD Consortium

Research output: Contribution to journalArticleResearchpeer-review

6 Citations (Scopus)


Background: A recently published East Asian genome-wide association study of Parkinson;s disease (PD) reported 2 novel risk loci, SV2C and WBSCR17. Objectives: The objective of this study were to determine whether recently reported novel SV2C and WBSCR17 loci contribute to the risk of developing PD in European and East Asian ancestry populations. Methods: We report an association analysis of recently reported variants with PD in the COURAGE-PD cohort (9673 PD patients; 8465 controls) comprising individuals of European and East Asian ancestries. In addition, publicly available summary data (41,386 PD patients; 476,428 controls) were pooled. Results: Our findings confirmed the role of the SV2C variant in PD pathogenesis (rs246814, COURAGE-PD PEuropean = 6.64 × 10−4, pooled PD P = 1.15 × 10−11). The WBSCR17 rs9638616 was observed as a significant risk marker in the East Asian pooled population only (P = 1.16 × 10−8). Conclusions: Our comprehensive study provides an up-to-date summary of recently detected novel loci in different PD populations and confirmed the role of SV2C locus as a novel risk factor for PD irrespective of the population or ethnic group analyzed.

Original languageEnglish
Pages (from-to)1689-1695
Number of pages7
JournalMovement Disorders
Issue number7
Publication statusPublished - Jul 2021


  • dopamine transmission
  • ethnic transferability
  • synaptic vesicle

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