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首页> 外文期刊>The Canadian Journal of Neurological Sciences: le Journal Canadien des Sciences Neurologiques >LRRK2 is not a significant cause of Parkinson's disease in French-Canadians.
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LRRK2 is not a significant cause of Parkinson's disease in French-Canadians.

机译：在法国-加拿大人中，LRRK2不是帕金森氏病的重要原因。

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BACKGROUND: An old founder mutation (G2019S) was found with high frequency in the North African Arabs (30%) and Ashkenazi Jews (18% ). Objective: Demonstrate if mutations in the LRRK2 gene are a significant cause of Parkinson's disease (PD) in the French-Canadian founder population. METHODS: Cases were recruited through a designated movement disorder clinic in Quebec City. Every index case had to meet the Ward and Gibb criteria for PD. Controls consisted of a non-disease group of similar age and ethnicity as the cases. Exons 31 and 41 of LRRK2 were amplified by PCR with intronic primers in all 125 PD cases and directly sequenced on an ABI 3700 sequencer. Six single nucleotide polymorphism were typed in 125 PD cases and 95 normal controls. Associations between unrelated cases and matched controls were analyzed. Single marker analysis and haplotype association tests were performed. RESULTS: Sequencing analysis did not reveal any reported or novel mutations in exons 31 and 41 of LRRK2. The G2019S mutationas well as mutations affecting amino acid 1441 were absent in the 125 patients. The case-control association study performed to detect the presence of a common variant in LRRK2 did not provide any positive signal. Single-marker and haplotype analyses systematically gave non-significant P values. CONCLUSIONS: We performed a case-control association study in 125 French-Canadian (FC) patients with PD and 95 FC controls and found that common variants in LRRK2 are unlikely to be a significant cause of late-onset PD in this founder population.
机译：背景：在北非阿拉伯人（30％）和阿什肯纳兹犹太人（18％）中发现了一个古老的创始人突变（G2019S），频率很高。目的：证明LRRK2基因突变是否是法裔加拿大创始人人群中帕金森氏病（PD）的重要原因。方法：病例是通过魁北克市一家指定的运动障碍诊所招募的。每个索引案例都必须满足PD的Ward和Gibb标准。对照组由年龄和种族与病例相似的非疾病组组成。在所有125个PD病例中，使用内含引物通过PCR扩增LRRK2的外显子31和41，并在ABI 3700测序仪上直接测序。在125个PD病例和95个正常对照中分型了6个单核苷酸多态性。分析了无关病例与匹配对照之间的关联。进行了单标记分析和单倍型关联测试。结果：测序分析未发现任何报告或LRRK2外显子31和41的新突变。 125例患者中没有G2019S突变以及影响氨基酸1441的突变。为检测LRRK2中常见变异而进行的病例对照关联研究未提供任何阳性信号。单标记和单倍型分析系统地给出了不显着的P值。结论：我们对125名法国-加拿大（FC）PD患者和95名FC对照患者进行了病例对照关联研究，发现LRRK2的常见变异不太可能是该创始人人群晚发PD的重要原因。

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