中国神经再生研究(英文版)

中国神经再生研究(英文版) ›› 2019, Vol. 14 ›› Issue (2): 346-353.doi: 10.4103/1673-5374.244800

• 原著:视神经损伤修复保护与再生 • 上一篇    下一篇

视神经脊髓炎谱系障碍与中国汉族人群GTF2IRD1-GTF2I的多态性

  

  • 出版日期:2019-02-15 发布日期:2019-02-15
  • 基金资助:

    中国国家自然科学基金项目（81271321）；四川省科技厅研究项目（2013FZ0015）， 中央高校基本科研专项资金（2017scu11049）

Association of GTF2IRD1–GTF2I polymorphisms with neuromyelitis optica spectrum disorders in Han Chinese patients

Jing-Lu Xie, Ju Liu, Zhi-Yun Lian, Hong-Xi Chen, Zi-Yan Shi, Qin Zhang, Hui-Ru Feng, Qin Du, Xiao-Hui Miao, Hong-Yu Zhou   

  1. Department of Neurology, West China Hospital, Sichuan University, Chengdu, Sichuan Province, China
  • Online:2019-02-15 Published:2019-02-15
  • Contact: Hong-Yu Zhou, PhD, zhouhy@scu.edu.cn.
  • Supported by:

    This study was supported by the National Natural Science Foundation of China, No. 81271321 (to HYZ); a grant from the Department of Science and Technology Research Projects in Sichuan Province of China, No. 2013FZ0015 (to HYZ); the Fundamental Research Funds for the Central Universities, China, No. 2017scu11049 (to QZ).

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摘要：

GTF2IRD1-GTF2I位点的突变与原发性干燥综合征、系统性红斑狼疮和类风湿性关节炎有关，许多研究表明该易感性位点为多种自身免疫性疾病共有，但还不确定GTF2IRD1-GTF2I多态性与视神经脊髓炎谱系障碍的关系。因此，作者拟通过病例对照研究证实其管辖。于2014/2017年在四川大学华西医院神经科招募了305例视神经脊髓炎谱系障碍患者以及487名健康对照者，提取外周血液，以基因分型技术分析中国汉族人群中GTF2IRD1-GTF2I多态性与视神经脊髓炎谱系障碍之间的遗传关联。结果发现：(1)rs117026326的次等位基因T与视神经脊髓炎谱系障碍风险增加有关（OR = 1.364，95％CI: 1.019-1.828，P = 0.037），且这种关联在水通道蛋白4免疫球蛋白G抗体阳性（OR = 1.397，95％CI: 1.021-1.912，P = 0.036）以及并存自身免疫疾病者（OR = 1.446，95％CI：1.072-1.952，P = 0.015）的分层分析中仍存在；(2)rs73366469单倍型CC在水通道蛋白4免疫球蛋白G抗体阳性者中更为常见（OR = 3.476，OR = 3.15，95％CI: 1.183-8.393，P = 0.022）。说明中国汉族人群中GTF2IRD1-GTF2I基因单核苷酸多态性rs117026326的次等位基因T及rs73366469单倍型CC与视神经脊髓炎谱系疾病易感性相关。

orcid: 0000-0002-7637-1305 (Hong-Yu Zhou)

关键词: 视神经脊髓炎谱系障, GTF2I, GTF2IRD1, 单核苷酸多态性, 自身免疫性疾病, 水通道蛋白4, 连锁不平衡, 单倍型, 神经再生

Abstract:

Variants at the GTF2I repeat domain containing 1 (GTF2IRD1)–GTF2I locus are associated with primary Sjögren’s syndrome, systemic lupus erythematosus, and rheumatoid arthritis. Numerous studies have indicated that this susceptibility locus is shared by multiple autoimmune diseases. However, until now there were no studies of the correlation between GTF2IRD1–GTF2I polymorphisms and neuromyelitis optica spectrum disorders (NMOSD). This case control study assessed this association by recruiting 305 participants with neuromyelitis optica spectrum disorders and 487 healthy controls at the Department of Neurology, from September 2014 to April 2017. Peripheral blood was collected, DNA extracteds and the genetic association between GTF2IRD1–GTF2I polymorphisms and neuromyelitis optica spectrum disorders in the Chinese Han population was analyzed by genotyping. We found that the T allele of rs117026326 was associated with an increased risk of neuromyelitis optica spectrum disorders (odds ratio (OR) = 1.364, 95% confidence interval (CI) 1.019–1.828; P = 0.037). This association persisted after stratification analysis for aquaporin-4 immunoglobulin G antibodies (AQP4-IgG) positivity (OR = 1.397, 95% CI 1.021–1.912; P = 0.036) and stratification according to coexisting autoimmune diseases (OR = 1.446, 95% CI 1.072–1.952; P = 0.015). Furthermore, the CC genotype of rs73366469 was frequent in AQP4-IgG-seropositive patients (OR = 3.15, 95% CI 1.183–8.393, P = 0.022). In conclusion, the T allele of rs117026326 was associated with susceptibility to neuromyelitis optica spectrum disorders, and the CC genotype of rs73366469 conferred susceptibility to AQP4-IgG-seropositivity in Han Chinese patients.

Key words: nerve regeneration, neuromyelitis optica spectrum disorders, GTF2I, GTF2IRD1, single-nucleotide polymorphism, autoimmune diseases, aquaporin-4, linkage disequilibrium, haplotype, neural regeneration