Myelin oligodendrocyte glycoprotein-associated disease is associated with BANK1, RNASET2 and TNIP1 polymorphisms

J Neuroimmunol. 2022 Nov 15:372:577937. doi: 10.1016/j.jneuroim.2022.577937. Epub 2022 Aug 1.

Abstract

Aim: Here we aimed to compare association of common immune-related genetic variants with three autoimmune central nervous system (CNS) demyelinating diseases, namely myelin oligodendrocyte glycoprotein-associated disease (MOGAD), multiple sclerosis (MS) and neuromyelitis optica spectrum disorder (NMOSD).

Methods: In this retrospective cross-sectional study, 26 common immune-related single nucleotide polymorphisms were genotyped in 102 patients with MOGAD, 100 patients with MS, 198 patients with NMOSD and 541 healthy control subjects recruited from Guangzhou, China.

Results: Among all tested genetic variations, one polymorphism, B cell scaffold protein with ankyrin repeats 1 (BANK1) rs4522865 was associated with multiple disorders, namely MOGAD (OR = 1.94, 95% CI:1.19-3.17, P = 0.0059) and NMOSD (OR = 1.69, 95% CI:1.17-2.45). Besides BANK1 rs4522865, two other non-HLA loci, ribonuclease T2 (RNASET2) rs9355610 (OR = 0.47, 95% CI: 0.26-0.85) and TNFAIP3 interacting protein 1 (TNIP1) rs10036748 (OR = 1.76, 95% CI: 1.16-2.71), were associated with MOGAD. In addition, NMOSD was associated with signal transducer and activator of transcription 4 (STAT4) rs7574865 (OR = 1.58, 95% CI: 1.12-2.24) and general transcription factor Iii (GTF2I) rs73366469 (OR = 1.60, 95% CI:1.12-2.29), while MS was associated with a killer cell lectin like receptor G1 (KLRG1) rs1805673 (OR = 0.61, 95% CI: 0.40-0.94) and T-box transcription factor 21 (TBX21) rs17244587 (OR = 2.25, 95% CI: 1.25-4.06).

Conclusion: The current study suggests for the first time three non-HLA susceptibility loci for MOGAD. In addition, comparison of association of 26 immune-related polymorphisms with three autoimmune CNS demyelinating diseases demonstrates substantial difference in genetic basis of those disorders.

Keywords: Autoimmune demyelinating diseases; Central nervous system; Multiple sclerosis; Myelin oligodendrocyte glycoprotein-associated disorders; Neuromyelitis optica spectrum disorder; Susceptibility genes.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adaptor Proteins, Signal Transducing* / genetics
  • Aquaporin 4
  • Autoantibodies
  • Cross-Sectional Studies
  • DNA-Binding Proteins* / genetics
  • Endoribonucleases
  • Humans
  • Membrane Proteins* / genetics
  • Multiple Sclerosis* / genetics
  • Myelin-Oligodendrocyte Glycoprotein
  • Neuromyelitis Optica* / genetics
  • Receptors, NK Cell Lectin-Like
  • Retrospective Studies
  • Ribonucleases* / genetics
  • STAT4 Transcription Factor
  • Transcription Factors, General
  • Transcription Factors, TFIII
  • Tumor Suppressor Proteins* / genetics

Substances

  • Adaptor Proteins, Signal Transducing
  • Aquaporin 4
  • Autoantibodies
  • BANK1 protein, human
  • DNA-Binding Proteins
  • Membrane Proteins
  • Myelin-Oligodendrocyte Glycoprotein
  • Receptors, NK Cell Lectin-Like
  • STAT4 Transcription Factor
  • TNIP1 protein, human
  • Transcription Factors, General
  • Transcription Factors, TFIII
  • Tumor Suppressor Proteins
  • Endoribonucleases
  • Ribonucleases
  • RNASET2 protein, human
  • ribonuclease T(2)