新疆帕金森病患者的 ATP13A2 基因突变。
ATP13A2 Gene Variants in Patients with Parkinson's Disease in Xinjiang.
机构信息
Department of Neurology, The Second Affiliated Hospital of Xinjiang Medical University, Urumqi, China.
Department of Neurology, The Fifth Affiliated Hospital of Xinjiang Medical University, Urumqi, China.
出版信息
Biomed Res Int. 2020 Nov 30;2020:6954820. doi: 10.1155/2020/6954820. eCollection 2020.
OBJECTIVE
To analyze the gene variants in the Han and Uyghur populations residing in Xinjiang and to determine their correlation with the risk of Parkinson's disease (PD).
METHODS
Four 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.
RESULTS
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.
CONCLUSION
rs2076603 SNV is associated with PD susceptibility, and the A allele is a PD protective factor in the Han population.
目的
分析新疆地区汉族和维吾尔族人群中的基因变异，并确定其与帕金森病（PD）风险的相关性。
方法
通过 Sanger DNA 测序，对 218 例散发性帕金森病患者（75 名维吾尔族和 143 名汉族）和 234 名健康对照者（90 名维吾尔族和 144 名汉族）进行了四个 SNV-rs56367069（Arg294Gln）、rs151117874（Thr12Met）、rs147277743（Ala746Thr）和 rs2076603 的基因分析。
结果
只有一名汉族患者携带 rs147277743 SNV 的 AG 基因型，汉族人群的频率为 0.46%。此外，该 SNV 与 PD 风险无关。rs2076603 SNV 与 PD 发病相关，特别是 A 等位基因在不同种族和年龄之间存在显著差异。整个队列中未检测到 rs56367069 和 rs151117874 SNV。
结论
rs2076603 SNV 与 PD 易感性相关，A 等位基因是汉族人群 PD 的保护因素。
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