CD58 polymorphisms associated with the risk of neuromyelitis optica in a Korean population.
CD58 polymorphisms associated with the risk of neuromyelitis optica in a Korean population.
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DOI：
10.1186/1471-2377-14-57
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发表时间：
2014-03-24
期刊：
影响因子：
2.6
通讯作者：
Shin HD
中科院分区：
文献类型：
--
作者：
Kim JY;Bae JS;Kim HJ;Shin HD
视神经肌萎缩症（neuromyelocytica，NMO）是一种严重的炎性脱髓鞘疾病（inflammatory demyelinating disease，IDD），以视神经和脊髓的炎症和脱髓鞘为特征，导致视神经和脊髓功能的丧失。在先前的全基因组关联研究中，发现分化簇58（CD 58）区域对高加索人多发性硬化（MS）的风险易感，并且CD 58变体与MS之间的关联在美国人中重复。然而，尚未进行研究来探讨CD 58与NMO之间的可能关联。因此，本研究旨在调查韩国人群中CD 58多态性与NMO风险的相关性。采用TaqMan技术对98例NMO患者和237例正常对照者（N = 336）的6个单核苷酸多态性（SNPs）进行基因分型。Logistic回归分析CD 58基因多态性与NMO的关系。分析结果显示，6个变异（rs 2300747、rs 1335532、rs 12044852、rs 1016140、CD58_ht1和CD58_ht3）之间存在显著关联（P = 0.002 ~ 0.008，Pcorr = 0.01 ~ 0.04）。CD 58的遗传变异可能与韩国人群中NMO的易感性有关。基于先前的研究，我们怀疑rs 2300747的A等位基因可能降低CD 58 RNA表达，从而增加NMO风险。此外，我们推断rs 1016140的G等位基因引起T细胞活性增加，从而使AQP 4抗体进入中枢神经系统（CNS）并最终导致NMO的发展。
Neuromyelitis optica (NMO) is a serious inflammatory demyelinating disease (IDD), characterized by the inflammation and demyelination of optic nerves and spinal cords, which subsequently leads to the loss of function. In a previous genome-wide association study, cluster of differentiation 58 (CD58) region was found to be susceptible for the risk of multiple sclerosis (MS) in Caucasian, and the association between CD58 variants and MS was replicated in Americans. However, no study has been conducted to explore the possible association between CD58 and NMO yet. Thus, this study aimed to investigate the association of CD58 polymorphisms with the risk of NMO in a Korean population. Using TaqMan assay, 6 single nucleotide polymorphisms (SNPs) were genotyped in 98 NMO patients and 237 normal controls (N = 336). Logistic regression analysis was conducted to find a possible association between CD58 polymorphisms and NMO. The analysis results showed that 6 variations (rs2300747, rs1335532, rs12044852, rs1016140, CD58_ht1, and CD58_ht3) showed significant associations (P = 0.002 ~ 0.008, Pcorr = 0.01 ~ 0.04). The genetic variations in CD58 may be associated with the susceptibility of NMO in a Korean population. Based on previous studies, we suspect that the A allele of rs2300747 may decrease CD58 RNA expression, thus increasing NMO risk. Also, we deduced that the G allele of rs1016140 caused an increase of T cell activity, which in turn eased the access of AQP4 antibody into central nervous system (CNS) and ultimately leading to NMO development.
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影响因子：
3.7
作者：
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