Tumor necrosis factor alpha promoter polymorphism -308 G/A in Brazilian patients with systemic lupus erythematosus

Hum Immunol. 2012 Nov;73(11):1166-70. doi: 10.1016/j.humimm.2012.07.336. Epub 2012 Aug 10.

Abstract

Systemic lupus erythematosus (SLE) is an autoimmune disease characterized by the production of antibodies to components of the cell nucleus in association with a diverse array of clinical manifestations. Polymorphisms in cytokines genes may play an important role in the development and clinical manifestation. Due to this, there is a great interest in the identification of biomarkers that which could quantify the susceptibility and disease activity. A case-control study of 98 lupus cases and 76 lupus-free adults controls, was performed to analyze whether or not the polymorphism of the TNF-α gene promoter at positions -308 G/A would alter the risk for SLE and clinical manifestations. Genotyping was carried out by polymerase chain reaction, PCR products were digested by NcoI restriction enzyme and fractionated after on 2% Agarose gel and visualized posteriorly staining by ethidium bromide. There were significant differences in the distribution of the TNF-α gene polymorphism between the SLE and control groups. Individual carriers of the variant allele A had a 3.29 (95% CI: 1.7738-6.1325)-fold increased risk for SLE. Moreover, association was observed between SLE patients and serositis (P=0.0228). This study presents a preliminary evidence of association between TNF-α polymorphism and SLE susceptibility in the Northeast population from Brazil.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Alleles
  • Brazil
  • Case-Control Studies
  • Female
  • Genetic Predisposition to Disease
  • Genotype
  • Humans
  • Lupus Erythematosus, Systemic / genetics*
  • Lupus Erythematosus, Systemic / immunology
  • Middle Aged
  • Polymorphism, Single Nucleotide*
  • Promoter Regions, Genetic*
  • Tumor Necrosis Factor-alpha / genetics*
  • Young Adult

Substances

  • Tumor Necrosis Factor-alpha