HLA-G Ins/Del polymorphism and +3142C/G SNP are not related to neuromyelitis optica spectrum disorder (NMOSD) development, disability status or anti-aquaporin 4 presence in Brazilian patients

J Neuroimmunol. 2020 Feb 15:339:577112. doi: 10.1016/j.jneuroim.2019.577112. Epub 2019 Nov 14.

Abstract

We analyzed the association of polymorphisms from the 3' untranslated region of the HLA-G gene in 70 neuromyelitis optica spectrum disorder (NMOSD) patients and 162 healthy controls. No associations were found between the polymorphisms in NMOSD when compared to healthy controls, serology of the anti-AQP4 NMOSD biomarker and Expanded Disability Status Scale (EDSS). In conclusion, the 3' untranslated region 14 bp Ins/Del and +3142C/G polymorphisms seem not to be associated with NMOSD susceptibility, autoantibody production, nor a neurological deficit in patients.

Keywords: +3142C/G SNP; 3′untranslated region; Genetic polymorphism; HLA-G; Ins/Del 14 bp; Neuromyelitis optica spectrum disorders.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Aquaporin 4 / blood
  • Aquaporin 4 / genetics*
  • Autoantibodies / blood
  • Autoantibodies / genetics*
  • Brazil / epidemiology
  • Disabled Persons*
  • Female
  • HLA-G Antigens / blood
  • HLA-G Antigens / genetics*
  • Humans
  • Male
  • Middle Aged
  • Neuromyelitis Optica / blood
  • Neuromyelitis Optica / epidemiology
  • Neuromyelitis Optica / genetics*
  • Polymorphism, Single Nucleotide / genetics*
  • Untranslated Regions / genetics
  • Young Adult

Substances

  • AQP4 protein, human
  • Aquaporin 4
  • Autoantibodies
  • HLA-G Antigens
  • Untranslated Regions