Wang Feng, Feng Xiuli, Ma Jinhong, Zou Haiqiang, Chan Piu
Department of Neurobiology and Neurology, Beijing Institute of Geriatrics and Xuanwu Hospital of Capital University of Medical Sciences, Beijing 100053, China.
Neurosci Lett. 2006 Dec 20;410(2):121-5. doi: 10.1016/j.neulet.2006.09.080. Epub 2006 Nov 7.
Parkinson's disease (PD) is a complex neurodegenerative disease with genetic risk factors. Common variants in genes implicated in hereditary forms of parkinsonism may be predisposing factors for sporadic PD. Recent studies have demonstrated that mutations in PINK1 (PARK6 locus) gene, encoding PTEN-induced kinase 1, are associated with both familial recessive and sporadic early onset parkinsonism. In order to assess whether the coding variant A340T contributes to the risk of late-onset PD, we performed an association study of 539 PD patients with an onset age at or older than 50 and 525 controls in Chinese Han. Genotyping was performed by denaturing high performance liquid chromatography (DHPLC) combined with sequencing analyses. The A-allele frequency was 6.2% in PD and 4.2% in controls (p=0.0404), while G/A genotype frequencies were 12.4% in PD and 8.4% in the controls (p=0.0350). Our results yielded significant evidence for disease association between PINK1 A340T and PD with later onset (OR 1.55, 95% CI 1.04-2.32, p=0.0393), thus suggesting that PINK1 A340T variant may contribute to the risk for late-onset PD in Chinese.
帕金森病（PD）是一种具有遗传风险因素的复杂神经退行性疾病。与遗传性帕金森综合征相关基因的常见变异可能是散发性PD的易感因素。最近的研究表明，编码PTEN诱导激酶1的PINK1（PARK6位点）基因突变与家族性隐性和散发性早发性帕金森综合征均有关联。为了评估编码变异A340T是否会增加晚发性PD的风险，我们对539例发病年龄在50岁及以上的PD患者和525名中国汉族对照者进行了关联研究。采用变性高效液相色谱（DHPLC）结合测序分析进行基因分型。A等位基因频率在PD患者中为6.2%，在对照者中为4.2%（p=0.0404），而G/A基因型频率在PD患者中为12.4%，在对照者中为8.4%（p=0.0350）。我们的结果为PINK1 A340T与晚发性PD之间的疾病关联提供了重要证据（OR 1.55，95%CI 1.04-2.32，p=0.0393），从而表明PINK1 A340T变异可能在中国晚发性PD的发病风险中起作用。
