摘要
目的 探讨锌指蛋白（ZNF）512B基因单核苷酸多态性（SNPs）对肌萎缩侧索硬化（ALS）患者预后的影响。方法 选取黑龙江省哈尔滨医科大学附属第二医院自2012年9月至2015年6月收治的ALS患者47例。提取患者外周血DNA后采用基因测序技术检测基因风险片段的SNPs。所有患者均接受临床随访及定期评估，记录患者生存时间及病情进展情况。应用Prism 5.0软件绘制不同等位基因型患者生存曲线并采用Cox回归分析对影响预后的因素进行分析。结果 与ALS临床预后相关的ZNF512B基因片段rs2275294包括CC、CT和TT 3种基因型，C为风险等位基因，含有风险等位基因的患者（CC型＋CT型）较不含风险等位基因的患者（TT型）生存率低，差异有统计学意义（P=0.039）。CC型与CT型患者生存率差异无统计学意义（P=0.376）。风险等位基因、起病年龄、起病部位、起病到确诊时间都是影响预后的独立影响因素。结论 ZNF512B基因中风险片段rs2275294的SNPs对评估ALS患者的预后有重要意义。
Objective To investigate the effect of single nucleotide polymorphisms （SNPs） of zinc finger protein （ZNF） 512B gene on the prognosis of the patients with amyotrophic lateral sclerosis （ALS）.Methods From September 2012 to June 2015, 47 ALS patients were admitted to The Second Affiliated Hospital to Harbin Medical University. Gene sequencing techniques were used to detect the SNPs of gene risk fragments after the peripheral blood DNA was extracted from the patients. All the patients received clinical follow-up and regular assessment to record their survival time and disease progress. The survival curves of the patients with different alleles were plotted by Prism 5.0 and the factors affecting their prognosis were analyzed by Cox regression analysis.Results The fragment rs2275294 in ZNF512B gene was related to the clinical prognosis of ALS, involving 3 genotypes： CC, TT and CT. C was identified as the risk allele. The survival rate for the patients with the risk allele （types CC ＋ CT） was significantly lower than that for those without the risk allele （type TT） （P=0.039）. There was no statistically significant difference in the survival rate between CC and CT patients （P=0.376）. Risk allele, age of onset, location of onset and duration from onset to diagnosis were independent factors that might affect the prognosis of the ALS patients.Conclusion The SNPs of the risk fragment rs2275294 in ZNF512B gene is significant in evaluation of the prognosis of ALS patients.
作者
张颖
俞春江
Zhang Ying;Yu Chunjiang(Department of Neurology, The People＇s Hospital of Hulunbeier City, Hulunbeier 021000, China;Department of Neurology, The Second Affiliated Hospital to Harbin Medical University, Harbin 150000, China)
出处
《中华神经医学杂志》
CAS
CSCD
北大核心
2018年第4期387-391,共5页
Chinese Journal of Neuromedicine
