4.6 Article

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

Journal

MOVEMENT DISORDERS
Volume 36, Issue 7, Pages 1689-1695

Publisher

WILEY
DOI: 10.1002/mds.28546

Keywords

ethnic transferability; synaptic vesicle; dopamine transmission

Funding

  1. Michael J. Fox Foundation, USA Genetic Diversity in PD Program: GAP-India [17473]
  2. German Research Council [DFG/SH 599/6-1]
  3. MSA Coalition
  4. Michael J. Fox Foundation
  5. Luxembourg National Research Fund (FNR) within the PEARL programme [FNR/P13/6682797]
  6. National Centre for Excellence in Research in Parkinson's Disease (NCER-PD)

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The study aimed to investigate the contribution of SV2C and WBSCR17 loci to the risk of developing PD in European and East Asian populations. The findings confirmed the role of the SV2C variant in PD pathogenesis, while the WBSCR17 rs9638616 was observed as a significant risk marker in the East Asian population only.
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 P-European = 6.64 x 10(-4), pooled PD P = 1.15 x 10(-11)). The WBSCR17 rs9638616 was observed as a significant risk marker in the East Asian pooled population only (P = 1.16 x 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. (c) 2021 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society

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