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.
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。