Abstract
Objective 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). Methods 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. 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 ATP13A2 rs2076603 SNV is associated with PD susceptibility, and the A allele is a PD protective factor in the Han population.
Highlights
Parkinson’s disease (PD) is the second most common neurodegenerative disease after Alzheimer’s disease
The ATP13A2 gene in particular is associated with PD susceptibility [8,9,10] and shows considerable variations in the types and frequencies of mutations in PD patients across different ethnic groups
We used Sanger DNA sequencing to analyze the prevalence of four ATP13A2 single nucleotide variants (SNVs)—rs56367069 (Arg294Gln), rs151117874 (Thr12Met), rs147277743 (Ala746Thr), and rs2076603—in Han and Uygur PD patients in Xinjiang, in order to determine the correlation between ATP13A2 and PD in these populations
Summary
Parkinson’s disease (PD) is the second most common neurodegenerative disease after Alzheimer’s disease. The incidence rate of PD is about 0.5%-1% among individuals aged 60-65 years and increases up to 1%-3% in those older than 80 years [1, 2]. The pathogenesis of PD is complicated and influenced by aging, as well as genetic and environmental factors [4]. The ATP13A2 gene in particular is associated with PD susceptibility [8,9,10] and shows considerable variations in the types and frequencies of mutations in PD patients across different ethnic groups. There are no reports so far of ATP13A2 gene variants in the PD patients of different ethnic groups in Xinjiang, a geographically and culturally unique region of China. We used Sanger DNA sequencing to analyze the prevalence of four ATP13A2 single nucleotide variants (SNVs)—rs56367069 (Arg294Gln), rs151117874 (Thr12Met), rs147277743 (Ala746Thr), and rs2076603—in Han and Uygur PD patients in Xinjiang, in order to determine the correlation between ATP13A2 and PD in these populations
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