TY - JOUR
T1 - Replication of a Novel Parkinson's Locus in a European Ancestry Population
AU - Grover, Sandeep
AU - Kumar-Sreelatha, Ashwin Ashok
AU - Bobbili, Dheeraj R.
AU - May, Patrick
AU - Domenighetti, Cloé
AU - Sugier, Pierre Emmanuel
AU - Schulte, Claudia
AU - Elbaz, Alexis
AU - Krüger, Rejko
AU - Gasser, Thomas
AU - Sharma, Manu
AU - COURAGE-PD Consortium
AU - COURAGE-PD Consortium
N1 - Publisher Copyright:
© 2021 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
PY - 2021/7
Y1 - 2021/7
N2 - 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.
AB - 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.
KW - dopamine transmission
KW - ethnic transferability
KW - synaptic vesicle
UR - http://www.scopus.com/inward/record.url?scp=85112487585&partnerID=8YFLogxK
UR - https://www.ncbi.nlm.nih.gov/pubmed/33760272
U2 - 10.1002/mds.28546
DO - 10.1002/mds.28546
M3 - Article
C2 - 33760272
AN - SCOPUS:85112487585
SN - 0885-3185
VL - 36
SP - 1689
EP - 1695
JO - Movement Disorders
JF - Movement Disorders
IS - 7
ER -