The role of SIRT1 level and SIRT1 gene polymorphisms in optic neuritis patients with multiple sclerosis

Orphanet J Rare Dis. 2023 Mar 22;18(1):64. doi: 10.1186/s13023-023-02665-x.

Abstract

The aim: To investigate the role of Sirtuin 1 (SIRT1) level and SIRT1 (rs3818292, rs3758391, rs7895833) gene polymorphisms in patients with optic neuritis (ON) and multiple sclerosis (MS).

Methods: 79 patients with ON and 225 healthy subjects were included in the study. ON patients were divided into 2 subgroups: patients with MS (n = 30) and patients without MS (n = 43). 6 ON patients did not have sufficient data for MS diagnosis and were excluded from the subgroup analysis. DNA was extracted from peripheral blood leukocytes and genotyped by real-time polymerase chain reaction. Results were analysed using the program "IBM SPSS Statistics 27.0".

Results: We discovered that SIRT1 rs3758391 was associated with a twofold increased odds of developing ON under the codominant (p = 0.007), dominant (p = 0.011), and over-dominant (p = 0.008) models. Also, it was associated with a threefold increased odds ofON with MS development under the dominant (p = 0.010), twofold increased odds under the over-dominant (p = 0.032) models and a 1.2-fold increased odds of ON with MS development (p = 0.015) under the additive model. We also discovered that the SIRT1 rs7895833 was significantly associated with a 2.5-fold increased odds of ON development under the codominant (p = 0.001), dominant (p = 0.006), and over-dominant (p < 0.001) models, and a fourfold increased odds of ON with MS development under the codominant (p < 0.001), dominant (p = 0.001), over-dominant (p < 0.001) models and with a twofold increased odds of ON with MS development (p = 0.013) under the additive genetic model. There was no association between SIRT1 levels and ON with/without MS development.

Conclusions: SIRT1 rs3758391 and rs7895833 polymorphisms are associated with ON and ON with MS development.

Keywords: Multiple sclerosis; Optic neuritis; SIRT1 ELISA; SIRT1 SNP.

MeSH terms

  • Genotype
  • Humans
  • Multiple Sclerosis* / genetics
  • Optic Neuritis* / genetics
  • Polymorphism, Single Nucleotide / genetics
  • Sirtuin 1 / genetics

Substances

  • Sirtuin 1
  • SIRT1 protein, human