The association between idiopathic Parkinson's disease (PD) and the ATP13A2 (PARK9) Ala746Thr variant, associated with Kufor-Rakeb syndrome, is controversial. We investigated this association in 69 patients with early onset PD (EOPD; ≦50 years of age), 192 patients with late onset PD (LOPD; >50 years of age), and 180 healthy controls in the Chinese population in Hong Kong. The presence of the Ala746Thr variant in the ATP13A2 locus was examined in all participants. We detected the heterozygous Ala746Thr variant in one healthy control (0.6%), one patient with EOPD (1.4%, p=0.50), and one patient with LOPD (0.5%, p=0.96). We suggest that the ATP13A2 Ala746Thr variant is not a common risk factor for PD in the Chinese population in Hong Kong.
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ATP13A2 Gene Variants in Patients with Parkinson's Disease in Xinjiang.
Biomed Res Int
June 2021
Department of Neurology, The Second Affiliated Hospital of Xinjiang Medical University, Urumqi, China.
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.
The role of the Ala746Thr variant in the ATP13A2 gene among Chinese patients with Parkinson's disease.
J Clin Neurosci
May 2013
Division of Neurology, Department of Medicine and Therapeutics, The Chinese University of Hong Kong, Shatin, Hong Kong.
The association between idiopathic Parkinson's disease (PD) and the ATP13A2 (PARK9) Ala746Thr variant, associated with Kufor-Rakeb syndrome, is controversial. We investigated this association in 69 patients with early onset PD (EOPD; ≦50 years of age), 192 patients with late onset PD (LOPD; >50 years of age), and 180 healthy controls in the Chinese population in Hong Kong. The presence of the Ala746Thr variant in the ATP13A2 locus was examined in all participants.
View Article and Find Full Text PDFLack of association between ATP13A2 Ala746Thr variant and Parkinson's disease in Han population of mainland China.
Neurosci Lett
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Department of Neurology and Institute of Neurology, Rui Jin Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China.
ATP13A2 (PARK9) mutations are related to Kufor-Rakeb syndrome (KRS). We performed genetic analysis of the Ala746Thr variant in an independent cohort of the patients with PD and healthy controls from mainland China. The Ala746Thr variant was present in 1/532 (0.
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