A common genetic factor for Parkinson disease in ethnic Chinese population in Taiwan

被引:69
作者
Fung, Hon-Chung
Chen, Chiung-Mei
Hardy, John
Singleton, Andrew B.
Wu, Yih-Ru
机构
[1] Chang Gung Mem Hosp, Dept Neurol, Taipei 10591, Taiwan
[2] Chang Gung Univ, Coll Med, Taipei 10591, Taiwan
[3] NIA, Neurogenet Lab, Bethesda, MD 20892 USA
[4] UCL, Reta Lila Weston Inst Neurol Studies, London WC1N 1PJ, England
[5] NIA, Mol Genet Unit, NIH, Bethesda, MD 20892 USA
基金
英国医学研究理事会;
关键词
D O I
10.1186/1471-2377-6-47
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
Background: Parkinson's disease (PD) is the most common neurodegenerative movement disorder, characterized clinically by resting tremor, bradykinesia, postural instability and rigidity. The prevalence of PD is approximately 2% of the population over 65 years of age and 1.7 million PD patients ( age >= 55 years) live in China. Recently, a common LRRK2 variant Gly2385Arg was reported in ethnic Chinese PD population in Taiwan. We analyzed the frequency of this variant in our independent PD case-control population of Han Chinese from Taiwan. Methods: 305 patients and 176 genetically unrelated healthy controls were examined by neurologists and the diagnosis of PD was based on the published criteria. The region of interest was amplified with standard polymerase chain reaction (PCR). PCR fragments then were directly sequenced in both forward and reverse directions. Differences in genotype frequencies between groups were assessed by the X-2 test, while X-2 analysis was used to test for the Hardy-Weinberg equilibrium. Results: Of the 305 patients screened we identified 27 (9%) with heterozygous G2385R variant. This mutation was only found in 1 (0.5%) in our healthy control samples ( odds ratio = 16.99, 95% CI: 2.29 to 126.21, p = 0.0002). Sequencing of the entire open reading frame of LRRK2 in G2385R carriers revealed no other variants. Conclusion: These data suggest that the G2385R variant contributes significantly to the etiology of PD in ethnic Han Chinese individuals. With consideration of the enormous and expanding aging Chinese population in mainland China and in Taiwan, this variant is probably the most common known genetic factor for PD worldwide.
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页数:4
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