1.Research progress on human leukocyte antigen gene polymorphisms in 4 types of autoimmune encephalitis
Pinfei NI ; Haitao REN ; Hongzhi GUAN
Chinese Journal of Neurology 2025;58(10):1107-1112
The genetic susceptibility to autoimmune encephalitis (AE) is associated with the polymorphisms of human leukocyte antigen ( HLA) genes. This article summarizes the genetic characteristics and clinical associations of HLA genes in 4 AE subtypes: anti-leucine-rich glioma inactivated 1 (LGI1) encephalitis, anti-immunoglobulin-like cell adhesion molecule 5 (IgLON5) antibody-associated encephalopathy, anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis, and anti-glutamic acid decarboxylase (GAD) antibody-associated neuroimmune syndrome. Significant associations have been identified between anti-LGI1 encephalitis and DRB1 *07∶01, and between anti-IgLON5 antibody-associated encephalopathy and DQB1 *05∶01. Furthermore, anti-NMDAR encephalitis is associated with DRB1 *16∶02 and DQB1 *05∶02, while anti-GAD antibody-associated neuroimmune syndrome is linked to HLA-DQB1 *02∶01. The HLA genes associated with different AE subtypes exhibit notable heterogeneity, suggesting that HLA polymorphisms may serve as potential molecular markers for the diagnosis, clinical phenotyping, and prognosis of AE.
2.Research progress on human leukocyte antigen gene polymorphisms in 4 types of autoimmune encephalitis
Pinfei NI ; Haitao REN ; Hongzhi GUAN
Chinese Journal of Neurology 2025;58(10):1107-1112
The genetic susceptibility to autoimmune encephalitis (AE) is associated with the polymorphisms of human leukocyte antigen ( HLA) genes. This article summarizes the genetic characteristics and clinical associations of HLA genes in 4 AE subtypes: anti-leucine-rich glioma inactivated 1 (LGI1) encephalitis, anti-immunoglobulin-like cell adhesion molecule 5 (IgLON5) antibody-associated encephalopathy, anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis, and anti-glutamic acid decarboxylase (GAD) antibody-associated neuroimmune syndrome. Significant associations have been identified between anti-LGI1 encephalitis and DRB1 *07∶01, and between anti-IgLON5 antibody-associated encephalopathy and DQB1 *05∶01. Furthermore, anti-NMDAR encephalitis is associated with DRB1 *16∶02 and DQB1 *05∶02, while anti-GAD antibody-associated neuroimmune syndrome is linked to HLA-DQB1 *02∶01. The HLA genes associated with different AE subtypes exhibit notable heterogeneity, suggesting that HLA polymorphisms may serve as potential molecular markers for the diagnosis, clinical phenotyping, and prognosis of AE.
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