TIRAP (MAL) S180L polymorphism is a common protective factor against developing tuberculosis and systemic lupus erythematosus Academic Article


  • Infection, Genetics and Evolution


  • Background and aim: The involvement of Toll-like receptor (TLR)-mediated pathways in infectious and autoimmunity has been suggested. The MyD88 adaptor-like (Mal) protein, also known as the TIR domain-containing adaptor protein (TIRAP), is implicated in the TLR2- and TLR4-mediated MyD88-dependent signaling pathway. The aim of this study was to investigate the influence of the functional TIRAP (MAL) S180L polymorphism on tuberculosis (TB) and four autoimmune diseases namely: rheumatoid arthritis (RA), primary Sjögren's syndrome (pSS), systemic lupus erythematosus (SLE) and type 1 diabetes mellitus (T1D). Methods: This was a case-control and family based association study in which 1325 individuals from a well-defined Colombian population were involved. TIRAP (MAL) S180L genotyping was done by using a polymerase chain reaction-restriction fragment length polymorphism technique and by direct sequencing. Results: Leu180 allele was found to be a protective factor against developing TB (odd ratio (OR): 0.53, 95% confidence interval (CI): 0.29-0.97) and SLE (OR: 0.29, 95% CI: 0.14-0.61) while no significant influence on RA, pSS and T1D was observed. Conclusion: These results support the influence of TIRAP (MAL) S180L polymorphism on TB and indicate that TB and SLE might share a common immunogenetic pathway in the innate immune response. © 2008 Elsevier B.V. All rights reserved.

publication date

  • 2008/9/1


  • Alleles
  • Autoimmune Diseases
  • Autoimmunity
  • Confidence Intervals
  • Immunogenetics
  • Innate Immunity
  • Odds Ratio
  • Polymerase Chain Reaction
  • Population
  • Protective Factors
  • Proteins
  • Restriction Fragment Length Polymorphisms
  • Rheumatoid Arthritis
  • Sjogren's Syndrome
  • Systemic Lupus Erythematosus
  • Toll-Like Receptors
  • Toll-like receptors
  • Tuberculosis
  • Type 1 Diabetes Mellitus
  • allele
  • alleles
  • autoimmune diseases
  • autoimmunity
  • confidence interval
  • diabetes
  • family
  • genetic polymorphism
  • genotyping
  • immune response
  • immunogenetics
  • innate immunity
  • insulin-dependent diabetes mellitus
  • lupus erythematosus
  • method
  • methodology
  • odds ratio
  • polymerase chain reaction
  • polymorphism
  • protein
  • proteins
  • restriction fragment length polymorphism
  • rheumatoid arthritis
  • tuberculosis

International Standard Serial Number (ISSN)

  • 1567-1348

number of pages

  • 4

start page

  • 541

end page

  • 544