ATP13A2 Gene Variants in Patients with Parkinson's Disease in Xinjiang.
ATP13A2 Gene Variants in Patients with Parkinson's Disease in Xinjiang.
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DOI：
10.1155/2020/6954820
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发表时间：
2020
影响因子：
--
通讯作者：
Yang X
中科院分区：
文献类型：
--
作者：
Wang D;Gao H;Li Y;Jiang S;Yang X
目的分析新疆汉族和维吾尔族人群ATP 13 A2基因多态性，探讨其与帕金森病（PD）的相关性。 采用桑格基因测序技术，对218例散发性PD患者（维吾尔族75例，汉族143例）和234例健康对照（维吾尔族90例，汉族144例）的4个ATP 13 A2 SNV基因rs56367069（Arg294Gln）、rs151117874（Thr12Met）、rs147277743（Ala746Thr）和rs2076603进行分析。 只有1例汉族患者具有rs147277743 SNV的AG基因型，表明在汉族人群中的频率为0.46%。此外，该SNV与PD风险无关。rs2076603 SNV与PD发展相关，特别是A等位基因在种族和年龄之间存在显著差异。在整个队列中未检测到rs56367069和rs151117874 SNV。 ATP13A2 rs2076603 SNV与PD易感性相关，A等位基因是汉族人群PD的保护因子。
To analyze the ATP13A2 gene variants in the Han and Uyghur populations residing in Xinjiang and to determine their correlation with the risk of Parkinson's disease (PD). Four ATP13A2 SNVs—rs56367069 (Arg294Gln), rs151117874 (Thr12Met), rs147277743 (Ala746Thr), and rs2076603—were analyzed in 218 patients (75 Uyghurs and 143 Hans) with sporadic PD and 234 healthy controls (90 Uyghurs and 144 Hans) by Sanger DNA sequencing. Only one Han patient harbored the AG genotype of the rs147277743 SNV, indicating a frequency of 0.46% in the Han population. In addition, this SNV was not associated with PD risk. The rs2076603 SNV was correlated with PD development, and the A allele in particular was significantly different across ethnicity and age. The rs56367069 and rs151117874 SNVs were not detected in the entire cohort. ATP13A2 rs2076603 SNV is associated with PD susceptibility, and the A allele is a PD protective factor in the Han population.
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