Replication assessment of NUS1 variants in Parkinson's Disease
Bernabe I Bustos,
Sara Bandres Ciga,
J Raphel Gibbs,
Niccolo E Mencacci,
Steven J. Lubbe,
International Parkinson's Disease Genomics Consortium (IPDGC)
Posted 15 Jul 2020
medRxiv DOI: 10.1101/2020.07.13.20153122
Posted 15 Jul 2020
The NUS1 gene was recently associated with Parkinson's disease (PD) in the Chinese population. Here, as part of the International Parkinson's Disease Genomics Consortium (IPDGC), we have leveraged large-scale PD case-control cohorts to comprehensively assess the NUS1 association in individuals of European descent. Burden analysis of rare nonsynonymous damaging variants across case-control individuals from whole-exome and -genome datasets did not find evidence of NUS1 association with PD. Overall, single variant tests for rare (MAF<0.01) and common (MAF[≥]0.01) variants, including 15 PD-GWAS cohorts and summary statistics from the largest PD GWAS meta-analysis to date, also did not uncover any associations. Our results indicate a lack of evidence for a role of rare damaging nonsynonymous NUS1 variants in PD in unrelated case-control cohorts of European descent, suggesting that the previously observed association could be driven by extremely rare population-specific variants.
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