Microtubule-associated protein tau (MAPT) influences the risk of Parkinson's disease among Indians
Microtubule-associated protein tau (MAPT) influences the risk of Parkinson's disease among Indians
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DOI：
10.1016/j.neulet.2009.05.031
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发表时间：
2009-08-21
影响因子：
2.5
通讯作者：
Ray, Jharna
中科院分区：
文献类型：
--
作者：
Das, Gautami;Misra, Amar K.;Ray, Jharna
帕金森病（PD）是一种中枢神经系统的神经退行性疾病，其患病率随着年龄的增长而增加。微管相关蛋白tau（Microtubule-associated protein tau，MAPT）是一种神经元蛋白，参与了包括PD在内的多种神经退行性疾病的发病机制。为了确定这种关联与PD的更广泛意义，需要在不同种族人群中进行重复研究。在这项研究中，我们调查了MAPT与PD的潜在关联使用5个单倍型标记SNP和del-In 9多态性的MAPT在301例PD患者和243名健康对照从印度东部。我们的病例对照分析没有显示任何标志物与PD有显著相关性。然而，确定了PD的风险单倍型[GAC + G]（OR 1.563; 95%CI = 1.045-2.337; p = 0.03）。此外，单倍型AAC + A（OR = 2.787; 95%CI = 1.372-5.655; p = 0.004）与早发性PD（发病年龄40岁）密切相关。这一观察结果强调了rs7521在共同单倍型背景下改变PD发病年龄的重要性。AGC+A是散发病例的危险单倍型（OR = 2.773，95%CI = 1.198-6.407，p = 0.016）。这是印度在PD患者中进行的第一项MAPT相关性研究，为与其他种族群体进行比较提供了有价值的信息。(C)2009爱思唯尔爱尔兰有限公司保留所有权利。
Parkinson's disease (PD) is a neurodegenerative disease of the central nervous system and its prevalence increases with age. Microtubule-associated protein tau (MAPT), a neuronal protein is involved in the pathogenesis of several neurodegenerative diseases including PD. To determine the broader significance of this association with PD, replicative studies in distinct ethnic populations are required. In this study, we investigated MAPT for its potential association with PD using five haplotype-tagging SNPs and the del-In9 polymorphism of MAPT in 301 PD patients and 243 healthy controls from eastern India. Our case-control analysis did not show a significant association with any of the markers and PD. However, a risk haplotype [GAC + G] for PD was identified (OR 1.563; 95% CI = 1.045-2.337; p = 0.03). In addition, haplotype AAC + A (OR = 2.787; 95% Cl = 1.372-5.655; p = 0.004) was strongly associated with early onset PD (age at onset 40 years). This observation highlights the significance of rs7521 in modifying the age at onset of PD under a common haplotype background. We also identified AGC+A as a risk haplotype for sporadic cases (OR = 2.773,95% Cl = 1.198-6.407, p = 0.016). This is the first association study from India conducted on MAPT among PD patients and provides valuable information for comparison with other ethnic groups. (C) 2009 Elsevier Ireland Ltd. All rights reserved.