Replication of a novel Parkinson's locus in a European ancestry population.

  • Transversal Translational Medicine
July 01, 2021 By:
  • Grover S
  • Kumar-Sreelatha AA
  • Bobbili DR
  • May P
  • Domenighetti C
  • Sugier PE
  • Schulte C
  • Courage-PD Consortium
  • Elbaz A
  • Kruger R
  • Gasser T
  • Sharma M
  • Courage-PD Consortium.

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 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.

2021 Jul. Mov Disord.36(7):1689-1695. Epub 2021 Mar 24.
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