Jiang Haixia, Yang Baiyuan, Wang Fang, Li Kelu, Zhu Yongyun, Liu Bin, Ren Hui, Tian Sijia, Xu Yanming, Pang Ailan, Yang Xinglong
Department of Anesthesia, First Affiliated Hospital of Kunming Medical University, Kunming, 650032, Yunnan, People's Republic of China.
Department of Neurology, Seventh People's Hospital of Chengdu, Chengdu, 690041, Sichuan, People's Republic of China.
Neuromolecular Med. 2021 Jun;23(2):242-246. doi: 10.1007/s12017-020-08634-y. Epub 2021 Jan 2.
The aim of this study is to explore whether the single nucleotide polymorphism rs2275294 in the ZNF512B gene is related to the length of survival of patients with amyotrophic lateral sclerosis (ALS). This prospective study examined 212 patients with ALS, who were genotyped at the rs2275294 locus in ZNF512B using the ligase method. Genotype was compared with clinical data and survival. Kaplan-Meier survival analysis and Cox hazard regression were used to identify risk factors of shorter survival. Our results were meta-analyzed together with previous work in order to examine the potential association between the rs2275294-C allele and survival. Of the 212 patients, 166 carried the CC + CT genotype at the rs2275294 locus, while 46 carried the TT genotype. Patients with the C allele showed significantly shorter survival than those without it (34.13 ± 1.9 vs. 45.32 ± 5.7 months, p = 0.036). Cox analysis identified the C allele and time from symptom onset to diagnosis as risk factors for shorter survival. Meta-analysis of 447 patients in China and Japan confirmed the rs2275294-C allele to be an independent risk factor of shorter survival in ALS patients. The C allele at the rs2275294 locus in ZNF512B is a risk factor for shorter survival in patients with ALS.
本研究旨在探讨锌指蛋白512B（ZNF512B）基因中的单核苷酸多态性rs2275294是否与肌萎缩侧索硬化症（ALS）患者的生存期相关。这项前瞻性研究对212例ALS患者进行了检查，采用连接酶法对ZNF512B基因的rs2275294位点进行基因分型。将基因型与临床数据及生存期进行比较。采用Kaplan-Meier生存分析和Cox风险回归分析来确定生存期较短的危险因素。我们的研究结果与之前的研究进行了荟萃分析，以检验rs2275294-C等位基因与生存期之间的潜在关联。在212例患者中，166例在rs2275294位点携带CC + CT基因型，46例携带TT基因型。携带C等位基因的患者生存期明显短于未携带该等位基因的患者（34.13±1.9个月 vs. 45.32±5.7个月，p = 0.036）。Cox分析确定C等位基因以及从症状出现到诊断的时间为生存期较短的危险因素。对中国和日本的447例患者进行的荟萃分析证实，rs2275294-C等位基因是ALS患者生存期较短的独立危险因素。ZNF512B基因rs2275294位点的C等位基因是ALS患者生存期较短的一个危险因素。
