Association analysis of four candidate genetic variants with sporadic amyotrophic lateral sclerosis in a Chinese population

作者：Chen, Xueping; Huang, Rui; Chen, Yongping; Zheng, Zhenzhen; Chen, Ke; Song, Wei; Zhao, Bi; Yang, Yuan; Yuan, Lixing; Shang, Huifang^*

来源：Neurological Sciences, 2014, 35(7): 1089-1095.

DOI：10.1007/s10072-014-1656-1

• Amyotrophic lateral sclerosis
• rs2814707
• rs13048019
• rs12608932
• rs2228676
• 9p21

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.

• 出版日期2014-7
• 单位四川大学; 生物治疗国家重点实验室