The GTF2I rs117026326 polymorphism is associated with neuromyelitis optica spectrum disorder but not with multiple sclerosis in a Northern Han Chinese population
The GTF2I rs117026326 polymorphism is associated with neuromyelitis optica spectrum disorder but not with multiple sclerosis in a Northern Han Chinese population
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GTF2I rs117026326 多态性与北方汉族人群中的视神经脊髓炎谱系疾病相关，但与多发性硬化症无关
DOI：
10.1016/j.jneuroim.2019.577045
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发表时间：
2019-12-15
影响因子：
3.3
通讯作者：
Jin, Tao
中科院分区：
文献类型：
--
作者：
Liang, Hudong;Gao, Wenjing;Jin, Tao
多发性硬化（MS）和视神经肌萎缩症（NMOSD）是中枢神经系统常见的脱髓鞘疾病。MS和NMOSD的病因和发病机制尚不清楚。这两种疾病的发病机制涉及遗传易感性以及环境因素。NMOSD有时与舍格伦综合征、系统性红斑狼疮（SLE）和类风湿性关节炎（RA）共存，并且这些疾病通常与中枢神经系统疾病受累相关，如MS和NMOSD样临床特征所示。在东亚人群中，一般转录因子II-I（GTF 2 I）上游的遗传变异rs 117026326与原发性干燥综合征、SLE和RA相关。在这项研究中，我们对168例MS患者、144例NMOSD患者和1403例健康对照者的GTF 2 I基因单核苷酸rs 117026326多态性进行了基因分型。我们观察到变异rs 117026326与NMOSD之间存在显著的遗传关联（P = 1.09 x 10（-11），OR = 2.535），然而与MS的关联不显著（P = 0.4289，OR = 1.129）。基因表达分析表明，GTF 2 I的mRNA表达与该变异体的基因型之间无显著相关性。我们的结论是风险T等位基因rs 117026326增加NMOSD的风险，这表明NMOSD和MS可能有不同的遗传危险因素。
Multiple sclerosis (MS) and neuromyelitis optica spectrum disorder (NMOSD) are common demyelinating disorders of the central nervous system. The etiology and pathogenesis of MS and NMOSD remain unclear. The pathogenesis of these two diseases involves a genetic predisposition as well as environmental factors. NMOSD sometimes co-exists with Sjogren's syndrome, systemic lupus erythematosus (SLE), and rheumatoid arthritis (RA), and these diseases are frequently associated with central nervous system disorder involvement, as manifest in MS- and NMOSD-like clinical features. Genetic variant rs117026326 upstream of the general transcription factor II-I (GTF2I) has been associated with primary Sjogren's syndrome, SLE and RA in East Asian populations. In this study, we genotyped single nucleotide rs117026326 polymorphisms of the GTF2I gene in 168 patients with MS, 144 patients with NMOSD, and 1403 healthy controls. We observed a significant genetic association between the variant rs117026326 and NMOSD (P = 1.09 x 10(-11), OR = 2.535), however, the association with MS was not significant (P = .4289, OR = 1.129). Gene expression analyses showed that there was no significant association between the messenger RNA expression of GTF2I and genotypes at the variant. We conclude that the risk T allele of rs117026326 increases the risk of NMOSD, suggesting that NMOSD and MS may have different genetic risk factors.