Department of Neurology and State Key Laboratory of Biotherapy and Cancer Center, West China Hospital, SiChuan University, Chengdu, Sichuan, 610041, China.
Neurol Sci. 2014 Jul;35(7):1089-95. doi: 10.1007/s10072-014-1656-1. Epub 2014 Feb 4.
Recently, four single nucleotide polymorphisms (SNPs), including rs2814707 in the 9p21, rs12608932 in the UNC13A gene, rs13048019 in the TIMA1 gene, and rs2228576 in the SCNN1A gene have been reported to be associated with the risk for developing amyotrophic lateral sclerosis (ALS) in Caucasian population. However, this association is not consistent among different studies and yet to be tested in ALS patients in Mainland China. This study included 397 sporadic ALS (SALS) patients and 287 unrelated Chinese healthy controls from Southwest China. Four SNPs listed above were genotyped by using Sequenom's iPLEX assay. No significant differences in the genotype distributions or minor allele frequencies in all SNPs were found between ALS group and control group, between the spinal-onset group and bulbar-onset group, and between the early-onset group and the late-onset group. Our results suggest that these SNPs are unlikely to be common cause of SALS in Chinese population.
最近，有四项单核苷酸多态性（SNPs），包括 9p21 上的 rs2814707、UNC13A 基因上的 rs12608932、TIMA1 基因上的 rs13048019 和 SCNN1A 基因上的 rs2228576，已被报道与白种人群发生肌萎缩侧索硬化症（ALS）的风险相关。然而，这种相关性在不同的研究中并不一致，并且尚未在中国内地的 ALS 患者中进行测试。本研究纳入了来自中国西南地区的 397 例散发性 ALS（SALS）患者和 287 名无关的中国健康对照者。采用 Sequenom 的 iPLEX assay 对上述四个 SNPs 进行了基因分型。在 ALS 组和对照组、脊髓型组和延髓型组以及早发型组和晚发型组之间，所有 SNPs 的基因型分布或次要等位基因频率均无显著差异。我们的结果表明，这些 SNPs 不太可能是中国人群中 SALS 的常见原因。
