TIRAP (MAL) S180L polymorphism is a common protective factor against developing tuberculosis and systemic lupus erythematosus
"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."
Adaptor protein ; Leucine ; systemic ; interleukin-1 ; genetic ; Toll like receptor domain containing adaptor protein ; Adult ; Allele ; Article ; Autoimmune disease ; Case control study ; Colombia ; Confidence interval ; Controlled study ; Family ; Female ; Gene sequence ; Genetic polymorphism ; Genetic susceptibility ; Genotype ; Human ; Innate immunity ; Insulin dependent diabetes mellitus ; Major clinical study ; Male ; Polymerase chain reaction ; Priority journal ; Protection ; Restriction fragment length polymorphism ; Rheumatoid arthritis ; Sjoegren syndrome ; Systemic lupus erythematosus ; Tuberculosis ; Adult ; Case-control studies ; Colombia ; Female ; Gene frequency ; Genotype ; Humans ; Lupus erythematosus ; Male ; Membrane glycoproteins ; Middle aged ; Polymorphism ; Receptors ; Tuberculosis ; Mal ; Rheumatoid arthritis ; Sjögren's syndrome ; Systemic lupus erythematosus ; Tirap ; Tuberculosis ; Type 1 diabetes mellitus ;
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