Genetic analysis of NUS1 in Chinese patients with Parkinson's disease

Recently, a mutation in NUS1 has been reported to be associated with Parkinson's disease (PD) in a Chinese population. To further investigate the relationship between NUS1 and sporadic PD, we sequenced all exons and exon-intron boundaries of NUS1 in Chinese Han population including 494 PD patie...

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Bibliographic Details
Published in:Neurobiology of aging 2020-02, Vol.86, p.202.e5-202.e6
Main Authors: Chen, Xiang, Xiao, Yousheng, Zhou, Miaomiao, Lin, Yuwan, Guo, Wenyuan, Huang, Shuxuan, Qiu, Jiewen, Peng, Guoyou, Mo, Mingshu, Li, Zhe, Zhu, Xiaoqin, Xu, Pingyi
Format: Article
Language:English
Subjects:
Genetics
NUS1
Parkinson's disease
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Summary:Recently, a mutation in NUS1 has been reported to be associated with Parkinson's disease (PD) in a Chinese population. To further investigate the relationship between NUS1 and sporadic PD, we sequenced all exons and exon-intron boundaries of NUS1 in Chinese Han population including 494 PD patients and 478 healthy control individuals. As a result, we did not find the pathogenic mutation of NUS1 in PD patients. However, we detect 9 exonic variants including 4 synonymous variants and 5 nonsynonymous variants. Pathogenicity predictions indicated that 2 novel nonsynonymous variants (c.432 T>G, c.86 G>C) may be deleterious. All variants showed no significant association with sporadic PD. These results suggested that NUS1 mutation may not be a common genetic factor for Chinese patients with sporadic PD.
ISSN:0197-4580
1558-1497
DOI:10.1016/j.neurobiolaging.2019.09.002