All polymorphisms studied in this paper [PMID: 18417424] , total : 1 polymorphisms

Title : TIRAP (MAL) S180L polymorphism is a common protective factor against developing tuberculosis and systemic lupus erythematosus.

Abstract : 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 Sjogren'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.

Author : Castiblanco J,Varela DC,Castano-Rodriguez N,Rojas-Villarraga A,Hincapie ME,Anaya JM,

Source : Infect Genet Evol. 2008 Sep;8(5):541-4. doi: 10.1016/j.meegid.2008.03.001. Epub 2008 Mar 12.

No.	Polymorphism name	Gene Symbol	Entrez Gene ID
1	NA	TIRAP	114609