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

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.

Kumar-Sreelatha, Ashwin AshokUniversity of Tübingen (författare)
Bobbili, Dheeraj R (författare)
May, Patrick (författare)
Domenighetti, CloéVersailles Saint-Quentin-en-Yvelines University (författare)
Sugier, Pierre-EmmanuelVersailles Saint-Quentin-en-Yvelines University (författare)
Schulte, ClaudiaUniversity Hospital Münster (författare)
Elbaz, AlexisVersailles Saint-Quentin-en-Yvelines University (författare)
Krüger, RejkoUniversity Hospital of Tubingen (författare)
Gasser, ThomasUniversity Hospital Münster (författare)
Sharma, ManuUniversity of Tübingen (författare)
Puschmann, AndreasLund University,Lunds universitet,Neurologi, Lund,Sektion IV,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Klinisk neurogenetik,Forskargrupper vid Lunds universitet,Neurology, Lund,Section IV,Department of Clinical Sciences, Lund,Faculty of Medicine,Clinical Neurogenetics,Lund University Research Groups,Skåne University Hospital(Swepub:lu)med-aps (creator_code:cre_t)
Hellberg, ClaraLund University,Lunds universitet,Klinisk neurogenetik,Forskargrupper vid Lunds universitet,Clinical Neurogenetics,Lund University Research Groups,Skåne University Hospital(Swepub:lu)ala10che (creator_code:cre_t)
University of TübingenVersailles Saint-Quentin-en-Yvelines University (creator_code:org_t)
COURAGE-PD Consortium

Av författaren/redakt...: Grover, Sandeep; Kumar-Sreelatha, ...; Bobbili, Dheeraj ...; May, Patrick; Domenighetti, Cl ...; Sugier, Pierre-E ...; visa fler...; Schulte, Claudia; Elbaz, Alexis; Krüger, Rejko; Gasser, Thomas; Sharma, Manu; Puschmann, Andre ...; Hellberg, Clara; visa färre...

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