汉族人群中CD58基因多态性与视神经脊髓炎谱系障碍的关联
Association of CD58 gene polymorphisms with NMO spectrum disorders in a Han Chinese population.
作者信息
Liu Ju, Shi Ziyan, Lian Zhiyun, Chen Hongxi, Zhang Qin, Feng Huiru, Miao Xiaohui, Du Qin, Zhou Hongyu
机构信息
Department of Neurology, West China Hospital, Sichuan University, Guo Xuexiang #37, Chengdu 610041, China.
Department of Neurology, West China Hospital, Sichuan University, Guo Xuexiang #37, Chengdu 610041, China.
出版信息
J Neuroimmunol. 2017 Aug 15;309:23-30. doi: 10.1016/j.jneuroim.2017.05.003. Epub 2017 May 11.
This study aimed to perform a comprehensive assessment of the association between CD58 polymorphisms and the risk of neuromyelitis optica spectrum disorders (NMOSD) in a Han Chinese population. Nine single-nucleotide polymorphisms (SNPs) were genotyped in 230 NMOSD patients and 487 healthy controls. Five SNPs were significantly associated with an increased risk of NMOSD (rs2300747, rs1335532, rs56302466, rs1016140, and rs12044852). The haplotype TAGCCCAA significantly increased the risk of NMOSD, while TATTACGG reduced the risk. In conclusion, this study identified a new NMOSD susceptibility variant, rs56302466, and suggested that CD58 polymorphisms are associated with the risk of NMOSD in Han Chinese.
本研究旨在全面评估汉族人群中CD58基因多态性与视神经脊髓炎谱系障碍（NMOSD）风险之间的关联。对230例NMOSD患者和487例健康对照进行了9个单核苷酸多态性（SNP）的基因分型。5个SNP与NMOSD风险增加显著相关（rs2300747、rs1335532、rs56302466、rs1016140和rs12044852）。单倍型TAGCCCAA显著增加了NMOSD风险，而TATTACGG则降低了风险。总之，本研究鉴定出一个新的NMOSD易感变异体rs56302466，并提示CD58基因多态性与汉族人群中NMOSD风险相关。
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