Association of estrogen receptor alpha gene polymorphisms with cytokine genes expression in systemic lupus erythematosus

Croat Med J. 2009 Apr;50(2):117-23. doi: 10.3325/cmj.2009.50.117.

Abstract

Aim: To analyze the association of estrogen receptor alpha (OR alpha) gene polymorphisms with cytokine genes expression in patients with systemic lupus erythematosus (SLE) and controls.

Methods: Genomic DNA was extracted and polymorphisms of XbaI, Ukrainian (XX, Xx, or xx genotype) and PvuII (PP, Pp, or pp) in intron 1 of OR alpha gene were detected by polymerase chain reaction-restriction fragment length polymorphisms (PCR-RFLP) method. The messenger RNA (mRNA) levels of interleukin (IL)-10, IL-4, interferon (IFN)-gamma, and IL-2 were assessed by semiquantitative reverse transcription polymerase chain reaction (RT-PCR).

Results: In patients with SLE with PpXx genotype, IL-10 and IL-4 mRNA expression was higher (P < 0.001 and P = 0.013, respectively), while in patients with SLE with Ppxx genotype IFN-gamma and IL-2 mRNA expression was lower than in controls (P < 0.001). There was no significant difference in mRNA expression of 4 cytokines among controls with various genotypes.

Conclusion: OR alpha gene polymorphism may be associated with the expression of IL-10, IL-4, IL-2, and IFN-gamma in patients with SLE.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Case-Control Studies
  • Cytokines / genetics*
  • Cytokines / metabolism
  • Disease Progression
  • Estrogen Receptor alpha / genetics*
  • Estrogen Receptor alpha / metabolism
  • Female
  • Gene Expression Regulation
  • Genetic Predisposition to Disease
  • Genotype
  • Humans
  • Lupus Erythematosus, Systemic / genetics*
  • Lupus Erythematosus, Systemic / physiopathology
  • Polymerase Chain Reaction
  • Polymorphism, Genetic*
  • Polymorphism, Restriction Fragment Length
  • Probability
  • Prognosis
  • RNA, Messenger / analysis
  • Reference Values
  • Risk Factors
  • Sensitivity and Specificity
  • Severity of Illness Index
  • Statistics, Nonparametric
  • Young Adult

Substances

  • Cytokines
  • Estrogen Receptor alpha
  • RNA, Messenger