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, Andreas Puschmann (medarbetare), Clara Hellberg (medarbetare)

Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskriftPeer review

Sammanfattning

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. © 2021 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

Originalspråkengelska
Sidor (från-till)1689-1695
TidskriftMovement Disorders
Volym36
Nummer7
DOI
StatusPublished - 2021 juli

Bibliografisk information

© 2021 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

Ämnesklassifikation (UKÄ)

  • Neurologi

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