Association of TNFSF4 Gene Polymorphisms and Plasma TNFSF4 Level with Risk of Systemic Lupus Erythematosus in a Chinese Population

Immunol Invest. 2022 Feb;51(2):316-330. doi: 10.1080/08820139.2020.1828912. Epub 2020 Nov 9.

Abstract

Background: Systemic lupus erythematosus (SLE) is an autoimmune disease. Tumor necrosis factor ligand superfamily member 4 (TNFSF4) is an inflammatory factor that has been discussed in different inflammatory diseases and cancers. However, relationship between TNFSF4 and SLE is limited.

Material and methods: The present case-control study recruited 400 SLE patients and 600 healthy controls from Southern Chinese Han origin. Plasma levels of TNFSF4 were tested by enzyme linked-immunosorbent assay, and association of rs2205960, rs704840, rs844648, rs3850641 and rs17568 polymorphisms in TNFSF4 gene with SLE risk was evaluated by TaqMan assay according to genotyping.

Results: Plasma levels of TNFSF4 were significantly higher in SLE patients than that in healthy controls (390.87 (189.10-906.01) versus 132. 70 (81.27-195.58) pg/ml, P < 0.001). Increased levels of TNFSF4 were positively related to SLE disease activity score, optic nerve injury, leukopenia, and hypocompleminemia. Genotype TT+TG, allele T of rs2205960, genotype GG+GT of rs704840, genotype AA of rs844648 and rs17568 were significantly related to SLE risk (all P < 0.05). Moreover, polymorphism rs844648 was related to SLE patients with clinical feature rash either for genotype AA or allele A.

Conclusion: TNFSF4 was elevated in SLE patients and may associate with SLE susceptibility in Southern Chinese Han population.

Keywords: cytokine; inflammation; systemic lupus erythematosus.

Publication types

  • Case Reports

MeSH terms

  • Alleles
  • Case-Control Studies
  • China / epidemiology
  • Gene Frequency
  • Genetic Predisposition to Disease
  • Genotype
  • Humans
  • Lupus Erythematosus, Systemic* / genetics
  • OX40 Ligand* / genetics
  • Polymorphism, Single Nucleotide

Substances

  • OX40 Ligand
  • TNFSF4 protein, human