Association of rare heterozygous PLA2G6 variants with the risk of Parkinson's disease
Association of rare heterozygous PLA2G6 variants with the risk of Parkinson's disease
复制标题
罕见杂合 PLA2G6 变异与帕金森病风险的关联
DOI：
10.1016/j.neurobiolaging.2020.11.003
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发表时间：
2020-11
影响因子：
4.2
通讯作者：
Jifeng Guo
中科院分区：
文献类型：
--
作者：
Hongli Liu;Yige Wang;Hongxu Pan;Kun Xu;Li Jiang;Yuwen Zhao;Qian Xu;Qiying Sun;Jieqiong Tan;Xinxiang Yan;Jinchen Li;Beisha Tang;Jifeng Guo
ThePLA2G6gene has been identified as a causative gene for autosomal recessive early-onset dystonia-parkinsonism. Possible association was reported between single heterozygousPLA2G6mutation and the risk of Parkinson's disease (PD), which, however, remained inconclusive. To clarify the effect of heterozygousPLA2G6variants on the risk of PD, a total of 3710 patients with PD and 2636 controls of Chinese mainland population were recruited and genotyped by whole-exome sequencing or whole-genome sequencing. Variants in thePLA2G6coding region were extracted and subjected to burden analysis using the optimal sequence kernel association test. In total, we identified 86 rare heterozygous variants in thePLA2G6coding region, whereas no significant difference was found between cases and controls. Therefore, we found no supportive evidence for heterozygousPLA2G6variants being a risk factor for PD in Chinese mainland population.
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影响因子：
11
作者：
HUGHES, AJ;DANIEL, SE;LEES, AJ
通讯作者：
LEES, AJ
DOI：
10.1007/978-3-642-16483-5_4392
发表时间：
2019
期刊：
--
影响因子：
--
作者：
Shahul Hameed;Ging‐Yuek Robin Hsiung
通讯作者：
Shahul Hameed;Ging‐Yuek Robin Hsiung
中国常染色体隐性早发性帕金森病的 PLA2G6 基因突变
影响因子：
9.9
作者：
Shi, C. -h.;Tang, B. -s.;Guo, J. -f.
通讯作者：
Guo, J. -f.
影响因子：
11.2
作者：
Abou-Sleiman, Patrick M.;Muqit, Miratul M. K.;Wood, Nicholas W.
通讯作者：
Wood, Nicholas W.
影响因子：
2.5
作者：
J. Tian;B. Tang;Chang-he Shi;Zhan-yun Lv;Kai Li;Ri-li Yu;Lu Shen;Xinxiang Yan;Ji-feng Guo
通讯作者：
J. Tian;B. Tang;Chang-he Shi;Zhan-yun Lv;Kai Li;Ri-li Yu;Lu Shen;Xinxiang Yan;Ji-feng Guo