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Replication assessment of NUS1 variants in Parkinson’s Disease
Neurobiology of Aging ( IF 3.7 ) Pub Date : 2020-11-01 , DOI: 10.1016/j.neurobiolaging.2020.11.007 Bernabe I Bustos 1 , Sara Bandres-Ciga 2 , J Raphael Gibbs 3 , Dimitri Krainc 1 , Niccolo E Mencacci 1 , Ziv Gan-Or 4 , Steven J Lubbe 1 ,
Neurobiology of Aging ( IF 3.7 ) Pub Date : 2020-11-01 , DOI: 10.1016/j.neurobiolaging.2020.11.007 Bernabe I Bustos 1 , Sara Bandres-Ciga 2 , J Raphael Gibbs 3 , Dimitri Krainc 1 , Niccolo E Mencacci 1 , Ziv Gan-Or 4 , Steven J Lubbe 1 ,
Affiliation
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, we have leveraged large-scale PD case-control cohorts to comprehensively assess damaging NUS1 variants in individuals of European descent. Burden analysis of rare nonsynonymous damaging variants across case-control individuals from whole-exome and -genome data sets did not find evidence of NUS1 association with PD. Overall, single-variant tests for rare (minor allele frequency<0.01) and common (minor allele frequency>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.
更新日期：2020-11-01
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