Abstract

Background: Single nucleotide polymorphisms (SNPs) that occur within genes encoding inflammatory cytokines can result in quantitative or qualitative changes in their expression or functionality, potentially leading to the development of anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis. This study sought to evaluate the relationship between SNPs in inflammatory cytokines genes and the incidence of anti-NMDAR encephalitis in the Southern Han Chinese.Methods: In total, we enrolled 107 patients with anti-NMDAR encephalitis as well as 202 inpatient controls who had no first-degree relative with autoimmune diseases. Genotyping determination of all 309 patients was conducted for the IL-1β rs16944, IL-4 rs2243250, IL-4 rs2070874, IL-6 rs1800796, IL-10 rs1800872, and IL-17 rs2275913 gene SNPs.Results: We observed statistically significant differences in the frequencies of G allele in IL-1β rs16944 between anti-NMDAR encephalitis and controls (p = 0.017). Also, IL-1β, IL-4, IL-6, IL-10, and IL-17 SNPs were not associated with the disease (p > 0.05).Conclusions: We found that patients with anti-NMDAR encephalitis exhibit a distinct immunological profile, and we found that the decreased frequency of G allele in IL-1β rs16944 showed a protective role for anti-NMDAR encephalitis in the Southern Han Chinese.

Highlights

  • Anti-N-methyl-D-aspartate receptor encephalitis is a form of encephalitis affecting the central nervous system (CNS) that has only recently been characterized as a form of autoimmune disease [1]

  • We have previously demonstrated that anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis is associated with a significant increase in levels of IL-1β, IL-6, and IL-17A in the cerebrospinal fluid (CSF) relative to control patients [4]

  • We did not identify any significant differences in Single nucleotide polymorphisms (SNPs) genotypes of IL-1β, IL-4, IL-6, IL-10, and IL-17 between anti-NMDAR encephalitis and control groups

Read more

Summary

Introduction

Anti-N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis is a form of encephalitis affecting the central nervous system (CNS) that has only recently been characterized as a form of autoimmune disease [1]. Anti-NMDAR encephalitis is thought to be driven by pathogenic immune- and inflammation-mediated activation within the CNS, with both T and B cells functioning to drive disease-related immunopathogenesis [2]. Liba et al showed remarkable changes of chemokines levels related to B cells and T cells, such as tumor necrosis factor-α (TNF-α), interleukin-17A (IL-17A), and CXCL13 in the cerebrospinal fluid (CSF) at the early stage of anti-NMDAR encephalitis [3]. Single nucleotide polymorphisms (SNPs) that occur within genes encoding inflammatory cytokines can result in quantitative or qualitative changes in their expression or functionality, potentially leading to the development of anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis.

Methods
Results
Conclusion
Full Text
Published version (Free)

Talk to us

Join us for a 30 min session where you can share your feedback and ask us any queries you have

Schedule a call