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- Title
MIDN locus structural variants and Parkinson's Disease risk.
- Authors
Billingsley, Kimberley J.; Bandres‐Ciga, Sara; Ding, Jinhui; Hernandez, Dena; Gibbs, J. Raphael; Blauwendraat, Cornelis
- Abstract
Based on a candidate gene analysis, Obara and colleagues previously reported an association between Parkinson's disease (PD) and deletion structural variants (SV)s at the I MIDN i locus in the Japanese population.[1] In their recent study, using genotyping data from a British cohort, Obara and colleagues further suggest I MIDN i as a confirmed and universal risk factor of PD.[2] To establish the pathogenicity of I MIDN i , as part of the International Parkinson's Disease Genomics Consortium (IPDGC), we utilized the summary statistics from the most recent PD meta-analysis, which involved 37.7k PD cases, 18.6 U.K. biobank proxy-cases, and 1.4 million controls. In addition, we analyzed whole genome sequencing data (WGS) from eight cohorts totaling 3868 individuals (2742 PD cases and 1126 controls of European ancestry). Four additional singleton deletions were detected, including deletions of three reference I Alu i retrotransposons and a 4822-bp deletion that was detected in a healthy control (Fig.
- Subjects
PARKINSON'S disease; CHRONOBIOLOGY
- Publication
Annals of Clinical & Translational Neurology, 2020, Vol 7, Issue 4, p602
- ISSN
2328-9503
- Publication type
Article
- DOI
10.1002/acn3.51012