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Replication assessment of NUS1 variants in Parkinson's Disease

By Bernabe I Bustos, Sara Bandres Ciga, J Raphel Gibbs, Dimitri Krainc, Niccolo E Mencacci, Ziv Gan-Or, Steven J. Lubbe, International Parkinson's Disease Genomics Consortium (IPDGC)

Posted 15 Jul 2020
medRxiv DOI: 10.1101/2020.07.13.20153122

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[&ge;]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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