Absence of association of the Ala58Val (rs17571) CTSD gene variant with Parkinson's disease or amyotrophic lateral sclerosis in a Han Chinese population
Absence of association of the Ala58Val (rs17571) CTSD gene variant with Parkinson's disease or amyotrophic lateral sclerosis in a Han Chinese population
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中国汉族人群中 Ala58Val (rs17571) CTSD 基因变异与帕金森病或肌萎缩侧索硬化症之间不存在关联
DOI：
10.1016/j.neulet.2017.09.029
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发表时间：
2018
影响因子：
2.5
通讯作者：
徐严明
中科院分区：
文献类型：
--
作者：
席静;杨兴隆;赵全珍;郑晋华;安冉;田思佳;黄宏燕;胡发云;宁萍萍;徐严明
帕金森病（PD）、肌萎缩侧索硬化症（ALS）和阿尔茨海默病（AD）是可能具有共同遗传风险因素的神经退行性疾病。CTSD中的外显子变体Aal58Val（rs17571）最近与AD相关，这使我们研究它是否也影响ALS和PD的风险。使用连接酶检测反应对569例汉族PD患者、301例ALS患者和与每个患者组年龄和性别匹配的健康对照进行rs17571变异体基因分型。各疾病组与相应对照组的基因型和等位基因频率相似。当患者按性别、发病时年龄或发病时症状类型分层时，获得了类似的结果。这些结果表明，CTSD rs17571变异可能与中国汉族人ALS或PD的风险无关。
Parkinson's disease (PD), amyotrophic lateral sclerosis (ALS) and Alzheimer's disease (AD) are neurodegenerative diseases that may share genetic risk factors. The exon variant Aal58Val (rs17571) in CTSD was recently associated with AD, leading us to examine whether it also affects risk of ALS and PD. The rs17571 variant was genotyped using the ligase detection reaction in 569 Han Chinese patients with PD, 301 patients with ALS, and healthy controls age- and gender-matched to each patient group. The frequencies of genotypes and alleles were similar between each disease group and its respective control group. Similar results were obtained when patients were stratified by gender, age at disease onset or type of symptoms at disease onset. These results suggest that the CTSD rs17571 variant may not be associated with risk of ALS or PD in Han Chinese.