Does CETP rs5882, rs708272, SIRT1 rs12778366, FGFR2 rs2981582, STAT3 rs744166, VEGFA rs833068, IL6 rs1800795 polymorphisms play a role in optic neuritis development?

Ophthalmic Genet. 2019 Jun;40(3):219-226. doi: 10.1080/13816810.2019.1622022. Epub 2019 Jun 14.

Abstract

Objectives: Optic neuritis (ON) is defined as inflammation of the optic nerve, which is mostly idiopathic. However, it can be associated with various causes (demyelinating lesions, autoimmune disorders, infectious and inflammatory conditions). Inflammatory demyelinating disorder of the optic nerve can be associated with multiple sclerosis. It is thought that CETP, SIRT1, FGFR2, STAT3, VEGFA and IL6 genes play a key role in this autoimmune inflammatory disease. The aim of our study was to determine if the frequency of the CETP, SIRT1, FGFR2, STAT3, VEGFA and IL6 gene polymorphisms have an influence on the development of acute ON. Methods: The study enrolled patients with ON and a random sample of healthy population. The genotyping test of the CETPrs5882,rs708272, SIRT1rs12778366, FGFR2rs2981582, STAT3rs744166, VEGFArs833068, IL6rs1800795 polymorphisms was carried out using the RT-PCR method. Results: Our study determined that the G/A genotype of CETPrs708272 was associated with two-fold-decreased odds of ON development under the codominant (OR = 0.495;95%CI:0.256-0.959) and overdominant (OR = 0.501;95%CI:0.280-0.895) models. Also, each allele C at VEGFArs833068 was associated with 1.7-fold increased odds of ON development under the additive model (OR = 1.733;95%CI:1.148-2.615). Furthermore, IL6 rs1800795 G/G genotype was associated with increased odds of ON development under the codominant (OR = 2.869;95%CI:1.280-6.434) and recessive (OR = 2.315;95%CI:1.251-4.285) models. Conclusions: We revealed that the genotypes of CETPrs708272 G/A, IL6rs1800795 G/G, and each allele C at VEGFArs833068 were associated with ON. CETPrs708272 G/G genotype was associated with decreased by 62% odds of ON with MS development under the recessive (OR = 0.379;95%CI:0.155-0.929; p = .034) model.

Keywords: CETP; FGFR2; IL6; Optic neuritis; SIRT1; STAT3; VEGFA; gene polymorphisms.

MeSH terms

  • Adult
  • Case-Control Studies
  • Cholesterol Ester Transfer Proteins / genetics*
  • Female
  • Genotype
  • Haplotypes
  • Humans
  • Interleukin-6 / genetics*
  • Male
  • Middle Aged
  • Optic Neuritis / genetics
  • Optic Neuritis / pathology*
  • Polymorphism, Single Nucleotide*
  • Prognosis
  • Receptor, Fibroblast Growth Factor, Type 2 / genetics*
  • Risk Factors
  • STAT3 Transcription Factor / genetics*
  • Sirtuin 1 / genetics*
  • Vascular Endothelial Growth Factor A / genetics*

Substances

  • CETP protein, human
  • Cholesterol Ester Transfer Proteins
  • IL6 protein, human
  • Interleukin-6
  • STAT3 Transcription Factor
  • STAT3 protein, human
  • VEGFA protein, human
  • Vascular Endothelial Growth Factor A
  • FGFR2 protein, human
  • Receptor, Fibroblast Growth Factor, Type 2
  • SIRT1 protein, human
  • Sirtuin 1