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| 題名: | Genetic variants of SNCA and LRRK2 genes are associated with sporadic PD susceptibility: A replication study in a Taiwanese cohort |
| 作者: | 黃英儒;Wu-Chou, Yah-Huei;Chen, Ying-Ting;Yeh, Tu-Hsueh;Chang, Hsiu-Chen;Weng, Yi-Hsin;Lai, Szu-Chia;Huang, Chia-Ling;Chen, Rou-Shayn;Huang, Ying-Zu;Chen, Chiung-Chu;Hung, June;Chuang, Wen-Li;Lin, Wey-Yil;Chen, Chien-Hsiun;Lu, Chin-Song |
| 貢獻者: | 生醫理工學院認知神經科學研究所 |
| 關鍵詞: | Aged;alpha-Synuclein - genetics;Case-Control Studies;Female;Genetic Predisposition to Disease - genetics;Genetic susceptibility;Genotype;Humans;Leucine-Rich Repeat Serine-Threonine Protein Kinase-2;LRRK2;Male;Middle Aged;Neurology;Parkinson Disease - genetics;Parkinson's disease;Polymorphism, Single Nucleotide;Protein-Serine-Threonine Kinases - genetics;Replication study;SNCA;Taiwan |
| 日期: | 2013-02-01 |
| 上傳時間: | 2026-04-23 14:27:14 (UTC+8) |
| 出版者: | Elsevier BV;England: Elsevier Ltd |
| 摘要: | 摘要： Parkinson's disease (PD) is one of the most prevalent age-related neurodegenerative diseases and usually refers to a complex disorder with multiple genetic and environmental factors influencing disease risk. We here performed a gene-based case–control association study to scrutinize whether genetic variants in SNCA and LRRK2 genes could predispose to sporadic, late-onset form of PD in Taiwanese population. 17 Single Nucleotide Polymorphisms (SNPs) markers located within SNCA gene as well as the 16 SNP markers within LRRK2 gene were chosen for genotyping and evaluated their haplotype structure in a cohort of sporadic PD patients and control individuals. This study showed that two SNPs near the promoter region (rs2301134 and rs2301135) of SNCA gene gave the greatest evidence for an association with PD (p ≤ 0.01) and a haplotype block with two SNPs in the 3′ UTR (rs356221 and rs11931074) revealed another evidence of association (p ≤ 0.02). For the LRRK2 gene, only R1628P variants of total 16 SNPs giving a marginal significant association with PD across the whole gene (p = 0.0058) and no haplotype block was constructed. Many genetic variants (A419V, I1122V, R1441C, R1441G, R1441H, Y1699C, M1869V, M1869T, I2012T, G2019S, and I2020T) from previous reports were not detected in our cohort. We have replicated a population-based PD association study in a collection of 626 cases and 473 control subjects and confirm that genetic variants of both SNCA and LRRK2 genes are associated with susceptibility to sporadic PD but in a different distribution.
其他題名： Parkinsonism Relat Disord
出版者： England: Elsevier Ltd
出版日期： 2013-02-01
出處： Parkinsonism & related disorders, 2013-02, Vol.19 (2), p.251-255
版權： 2012 Elsevier Ltd
版權： Elsevier Ltd
版權： Copyright © 2012 Elsevier Ltd. All rights reserved.
識別號： ISSN: 1353-8020
識別號： ISSN: 1873-5126
識別號： EISSN: 1873-5126
識別號： DOI: 10.1016/j.parkreldis.2012.10.019
識別號： PMID: 23182315 |
| 顯示於類別: | [認知與神經科學研究所 ] 期刊論文
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