Analysis of Polymorphism C558T of MAL (TIRAP) inMediterranean Spotted FeverM. Bova1, L. Scola1, C. Colomba1, L. Vaccarino1, P. Di Gangi1, G. Santini1,G. Giammanco1, C. R. Balistreri1, D. Lio1, L. Titone Lanza Di Scalea11University of Palermo, Palermo, ItalyBackground: In our previous studies, we have demonstrated thatcytokine polymorphisms, such as IFNγ +874T/A or IL-17 SNP(7488T/C), might interfere with R. Conorii infection control. In addition, wehave reported that +896A/G TLR4 SNP is a component of a geneticbackground that might influence the clinical outcome of Boutonneusefever (Mediterranean spotted fever, MSF). The +869G allele, thatattenuates receptor signaling, was actually significantly overrepresented insymptomatic patients. Rickettsial PAMPS recognised through TLR4 andTLR2, activates the MyD-88 signaling pathway, which is involved in thetranscription activation of pro-inflammatory cytokine genes. In thispathway MAL (also known as TIRAP) plays a crucial role, therefore,TIRAP polymorphisms may influence the response to the pathogen. Inparticular, we analyzed C558T of TIRAP that seems to attenuate TLRsignaling.Methods: A total of 70 Sicilian patients affected by MSF and 230 controlsubjects matched for age, gender, and geographic origin were typed forTIRAP SNP (C558T) according to our laboratory procedures.Results: No significant differences between the two groups wereobserved; therefore, the TIRAP C558T genotypes seem not to influencethe susceptibility or protection against MSF.Conclusions: The results obtained suggest that the analyzed SNP on thegene coding for MAL does not seem relevant in determining increasedsusceptibility for the development of MSF. Nevertheless, it is appropriateto enlarge the casuistry and the number of SNPs involved in TLRsignaling pathways to better define the genetic background that modulatesthe immune response against R. conorii infection and the consequentialclinical outcome.
Original languageEnglish
Number of pages1
Publication statusPublished - 2014


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