HLA-DRA/HLA-DRB5基因多态性影响中国西南队列中散发性肌萎缩侧索硬化症的发病风险及生存率。
HLA-DRA/HLA-DRB5 polymorphism affects risk of sporadic ALS and survival in a southwest Chinese cohort.
作者信息
Yang Xinglong, Zheng JinHua, Tian Sijia, Chen Yalan, An Ran, Zhao Quanzhen, Xu Yanming
机构信息
Department of Neurology, West China Hospital, Sichuan University, 37 Guo Xue Xiang, Chengdu, Sichuan Province 610041, PR China.
Department of Neurology, West China Hospital, Sichuan University, 37 Guo Xue Xiang, Chengdu, Sichuan Province 610041, PR China.
出版信息
J Neurol Sci. 2017 Feb 15;373:124-128. doi: 10.1016/j.jns.2016.12.055. Epub 2016 Dec 28.
INTRODUCTION
Frontotemporal dementia (FTD), amyotrophic lateral sclerosis (ALS) and Parkinson's disease (PD) are neurodegenerative diseases that share common genetic risk factors. A recent genome-wide association study has linked risk of FTD with polymorphisms in the HLA-DRA/HLA-DRB5 gene (rs9268877, rs9268856), BTNL2 gene (rs1980493), and RAB38/CTSC gene (rs302668).
METHODS
We used the SNPscan™ Kit to genotype these variants in 400 Chinese patients with sporadic ALS, 554 with sporadic PD and 634 healthy controls.
RESULTS
The AA genotype at rs9268856 increased risk of ALS (P=0.005). Mean survival time was significantly shorter in patients with the AA genotype (24.8±16.2months) than in patients with other genotypes (36.9±19.9months; P<0.001). Kaplan-Meier curves and Cox analysis indicated significantly lower survival probability for patients carrying the AA genotype (P<0.001).
CONCLUSION
Our results suggest that the AA genotype at rs9268856 is an independent risk factor and prognostic factor for ALS in Han Chinese from southwest China.
引言
额颞叶痴呆（FTD）、肌萎缩侧索硬化症（ALS）和帕金森病（PD）是具有共同遗传风险因素的神经退行性疾病。最近一项全基因组关联研究已将FTD风险与HLA - DRA/HLA - DRB5基因（rs9268877、rs9268856）、BTNL2基因（rs1980493）以及RAB38/CTSC基因（rs302668）中的多态性联系起来。
方法
我们使用SNPscan™试剂盒对400例中国散发性ALS患者、554例散发性PD患者和634例健康对照者的这些变异进行基因分型。
结果
rs9268856位点的AA基因型增加了ALS风险（P = 0.005）。AA基因型患者的平均生存时间（24.8±16.2个月）显著短于其他基因型患者（36.9±19.9个月；P<0.001）。Kaplan - Meier曲线和Cox分析表明，携带AA基因型的患者生存概率显著更低（P<0.001）。
结论
我们的结果表明，rs9268856位点的AA基因型是中国西南部汉族人群中ALS的一个独立风险因素和预后因素。
Zotero 插件