Xu Lianping, Li Jiao, Tian Danyang, Chen Lu, Tang Lu, Fan Dongsheng
Department of Neurology, Peking University Third Hospital Beijing, China.
Department of Neurology, Beijing Tiantan Hospital, Capital Medical University Beijing, China.
Front Aging Neurosci. 2018 Apr 12;10:108. doi: 10.3389/fnagi.2018.00108. eCollection 2018.
Single-nucleotide polymorphisms (SNPs) in the Nogo-A receptor gene () have been associated with increased risk for sporadic amyotrophic lateral sclerosis (SALS) in the French population. In the present study, we investigated the associations between tag SNPs and SALS in a large Chinese population. Four tag SNPs (rs854971, rs887765, rs696880 and rs1567871) in the gene with an threshold of 0.8 and a minor allele frequency (MAF) greater than 0.2% were selected based on Chinese population data from HapMap. A total of 499 SALS patients and 503 healthy controls were genotyped for the SNPs by SNaPshot technology. Haplotype analysis of the four SNPs was performed using the SHEsis software platform. The results showed a significant association between the rs696880 risk allele (A) and SALS in the Han Chinese population ( = 0.009, odds ratio (OR) = 1.266 [1.06-1.51]). The allele and genotype frequencies of rs854971, rs887765 and rs1567871 were not associated with SALS. The distribution of the GAAT haplotype was different between the case and control groups ( = 0.008, OR = 1.289 [1.066-1.558]). In conclusion, our study showed an association between the SNP rs696880 and the risk of SALS in the Han Chinese population, with the A allele increasing risk.
在法国人群中，Nogo - A受体基因的单核苷酸多态性（SNPs）与散发性肌萎缩侧索硬化症（SALS）风险增加相关。在本研究中，我们调查了一大群中国人群中标签SNPs与SALS之间的关联。基于HapMap的中国人群数据，选择了基因中四个标签SNPs（rs854971、rs887765、rs696880和rs1567871），其r²阈值为0.8，次要等位基因频率（MAF）大于0.2%。通过SNaPshot技术对499例SALS患者和503例健康对照进行了SNPs基因分型。使用SHEsis软件平台对这四个SNPs进行单倍型分析。结果显示，rs696880风险等位基因（A）与汉族人群中的SALS存在显著关联（P = 0.009，优势比（OR） = 1.266 [1.06 - 1.51]）。rs854971、rs887765和rs1567871的等位基因和基因型频率与SALS无关。病例组和对照组之间GAAT单倍型的分布不同（P = 0.008，OR = 1.289 [1.066 - 1.558]）。总之，我们的研究表明汉族人群中rs696880 SNP与SALS风险存在关联，A等位基因增加风险。
