PDF(Sci-hub)
Abstract：
The LRRK2 gene is associated with Parkinson\'s disease (PD) as a number of mutations within the gene have been shown to be susceptibility factors. Studies on various global populations have determined that mutations such as G2019S, G2385R, and R1628P in LRRK2 increase the risk of developing PD while the N551K-R1398H haplotype is associated with conferring protection against developing PD. Here we report a study looking at the N551K and R1398H variants for the first time in the Malaysian population.
Cases (523) which conformed to the United Kingdom PD Brain Bank Criteria for PD were recruited through trained neurologists and age- and ethnically matched controls (491) were individuals free of any neurological disorder. The N551K and R1398H mutations were genotyped using the Taqman SNP genotyping assay.
A significant protective association for N551K was found in those of Malay ancestry, with a protective trend seen for R1398H. A meta-analysis of Chinese individuals in this cohort with other published cohorts of Chinese ancestry indicated a significant protective role for N551K and R1398H.
This study reports that the N551K-R1398H haplotype is also relevant to the Malaysian population, with a significant protective effect found in those of Malay and Chinese ancestries.
Cases (523) which conformed to the United Kingdom PD Brain Bank Criteria for PD were recruited through trained neurologists and age- and ethnically matched controls (491) were individuals free of any neurological disorder. The N551K and R1398H mutations were genotyped using the Taqman SNP genotyping assay.
A significant protective association for N551K was found in those of Malay ancestry, with a protective trend seen for R1398H. A meta-analysis of Chinese individuals in this cohort with other published cohorts of Chinese ancestry indicated a significant protective role for N551K and R1398H.
This study reports that the N551K-R1398H haplotype is also relevant to the Malaysian population, with a significant protective effect found in those of Malay and Chinese ancestries.
摘要：
LRRK2基因与帕金森病（PD）相关，因为该基因中的许多突变已被证明是易感因素。对各种全球人群的研究已经确定，G2019S等突变，G2385R,LRRK2中的R1628P会增加患PD的风险，而N551K-R1398H单倍型与保护免受患PD有关。在这里，我们报告了一项首次在马来西亚人口中观察N551K和R1398H变体的研究。
符合英国PD脑库PD标准的病例（523）是通过训练有素的神经学家招募的，年龄和种族匹配的对照（491）是没有任何神经系统疾病的个体。使用TaqmanSNP基因分型测定对N551K和R1398H突变进行基因分型。
在马来人祖先中发现了N551K的显着保护性关联，R1398H具有保护性趋势。该队列中中国人与其他已发表的中国血统队列的荟萃分析表明，N551K和R1398H具有重要的保护作用。
这项研究报告说，N551K-R1398H单倍型也与马来西亚人口有关，在马来人和中国祖先中具有显着的保护作用。
符合英国PD脑库PD标准的病例（523）是通过训练有素的神经学家招募的，年龄和种族匹配的对照（491）是没有任何神经系统疾病的个体。使用TaqmanSNP基因分型测定对N551K和R1398H突变进行基因分型。
在马来人祖先中发现了N551K的显着保护性关联，R1398H具有保护性趋势。该队列中中国人与其他已发表的中国血统队列的荟萃分析表明，N551K和R1398H具有重要的保护作用。
这项研究报告说，N551K-R1398H单倍型也与马来西亚人口有关，在马来人和中国祖先中具有显着的保护作用。
