AUTHOR=Yuan Lamei , Chen Xiangyu , Song Zhi , Le Weidong , Zheng Wen , Liu Xin , Deng Hao 

TITLE=Extended Study of NUS1 Gene Variants in Parkinson's Disease

JOURNAL=Frontiers in Neurology

VOLUME=11

YEAR=2020

URL=https://www.frontiersin.org/journals/neurology/articles/10.3389/fneur.2020.583182

DOI=10.3389/fneur.2020.583182

ISSN=1664-2295

ABSTRACT=<p>Parkinson's disease (PD), is the second most common neurodegenerative disorder worldwide. Genetic, environmental factors, and aging are its primary development contributors. Recently the nuclear undecaprenyl pyrophosphate synthase 1 homolog (<italic>Saccharomyces cerevisiae</italic>) gene (<italic>NUS1</italic>) was reported as a candidate gene for PD, which raised our interest in the relationship between <italic>NUS1</italic> and PD. This study was aimed to further explore the role of <italic>NUS1</italic> variants in PD development. Genetic analysis for 308 Han-Chinese PD patients and 308 ethnically matched controls using whole exome sequencing was conducted. Additionally, a total of 60 articles involving in whole exome/whole genome sequencing or direct sequencing of the <italic>NUS1</italic> gene from PubMed database between July 1, 2011 and August 26, 2020 were reviewed to evaluate PD-associated <italic>NUS1</italic> variants. No potentially pathogenic <italic>NUS1</italic> variant was found in 308 PD cases, and no frequency biases between 308 PD cases and 308 controls were observed for the only non-synonymous variant p.Asp179Glu (genotype: χ<sup>2</sup> = 0.093, <italic>P</italic> = 0.761; allele: χ<sup>2</sup> = 0.092, <italic>P</italic> = 0.762). No pathogenic or disease-associated <italic>NUS1</italic> variant was reported in the 5,636 PD cases of the 60 articles. In summary, current findings indicate that <italic>NUS1</italic> variant is not a common genetic factor contributing to PD.</p>