Genetic variants of SNCA and LRRK2 genes are associated with sporadic PD susceptibility: A replication study in a Taiwanese cohort

Yah Huei Wu-Chou, Ying Ting Chen, Tu Hsueh Yeh, Hsiu Chen Chang, Yi Hsin Weng, Szu Chia Lai, Chia Ling Huang, Rou Shayn Chen, Ying Zu Huang, Chiung Chu Chen, June Hung, Wen Li Chuang, Wey Yil Lin, Chien Hsiun Chen, Chin Song Lu

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32 引文 斯高帕斯(Scopus)

摘要

Background: 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. Methods: 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. Results: 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, M1869. V, M1869T, I2012T, G2019S, and I2020T) from previous reports were not detected in our cohort. Conclusions: 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.
原文英語
頁(從 - 到)251-255
頁數5
期刊Parkinsonism and Related Disorders
19
發行號2
DOIs
出版狀態已發佈 - 二月 2013
對外發佈

ASJC Scopus subject areas

  • 老年病學和老年學
  • 神經病學(臨床)
  • 神經內科

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