视神经脊髓炎谱系疾病的遗传学进展

Advances in the genetics of neuromyelitis optica spectrum disorders

视神经脊髓炎谱系疾病(neuromyelitis optica spectrum disorders,NMOSD)是一种主要累及视神经和脊髓的中枢神经自身免疫疾病,自身免疫性水通道蛋白4(AQP4)的IgG抗体是其特异性抗体。人类主要组织相容性复合体(human leucocyte antigen,HLA)与多种疾病有关,尤其是自身免疫性疾病。目前认为不同国家、地区和种族,人类白细胞抗原基因多态性与视神经脊髓炎(NMO)的相关性有差异,不同人群的NMO相关基因多态性不同。对AQP4基因多态性与NMO的关系有所争议。多种细胞因子被认为与NMO相关,但其基因多态性与NMO的关系尚未明确,本文基于前期文献的综述,研究NMOSD的基因易感性。

Neuromyelitis optica spectrum disorders(NMOSD/NMO)is an autoimmune disorder that primarily affects the optic nerve and spinal cord.IgG antibodies against autoimmune aquaporin 4(AQP4)are its specific antibodies.Human leucocyte antigen(HLA)is related to a variety of diseases,especially autoimmune diseases.Currently,it is believed that the correlation between HLA gene polymorphism and NMO is different in different countries,regions and races.The NMO related gene polymorphism is different in different populations.The relationship between AQP4 gene polymorphism and NMO is controversial.Many cytokines are thought to be related to NMO.However,the relationship between gene polymorphism and NMO remains controversial.This article studies the genetic susceptibility to NMOSD based on reviews of previous literatures.