期刊
NEUROSCIENCE LETTERS
卷 475, 期 2, 页码 61-63出版社
ELSEVIER IRELAND LTD
DOI: 10.1016/j.neulet.2010.03.018
关键词
Parkinson's disease; ATP13A2; mainland China
资金
- National Program of Basic Research of China [2006cb500706, 2010CB945200]
- National Natural Science Fund [30872729, 30971031, 30700888]
- Shanghai Key Discipline Program [S30202]
- Program for Outstanding Medical Academic Leader of Shanghai [LJ 06003]
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 (0.19%) of PD compared with 1/480 (0.21%) of healthy controls (odds ratio = 0.90, 95% CI 0.06, 14.39, P = 1.00). The two subjects carried the heterozygous genotype. Subset analysis in the group = 50 years of age revealed a prevalence of 0.7% in PD compared with 0% in healthy controls and in the group > 50 years of age showed 0% in PD versus 0.3% in healthy controls. We did not observe a significant association between Ala746Thr and Parkinson's disease in Han Chinese population, even after stratification by age at onset. The results suggested that Ala746Thr variant was not a major susceptible factor for PD in Han Chinese people. (C) 2010 Elsevier Ireland Ltd. All rights reserved.
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