Identification of syphilis susceptibility locus - a pilot study

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Authors

MUSILOVÁ Jana ŠMAJS David

Year of publication 2011
Type Conference abstract
MU Faculty or unit

Faculty of Medicine

Citation
Description Treponema pallidum subsp. pallidum (T. pallidum), the causative agent of sexually transmitted diseases syphilis, is known to affect people for at least five centuries. Since the end of the15th century, the disease has gone through a set of remarkable changes comprising its length, severity and mortality and became less virulent for humans. The changes in the disease progress must have been connected with changes in T. pallidum genome as well as in human genome. Although sequences of both genomes have been revealed, mechanisms of pathogenesis and virulence factors of T. pallidum have remained unclear. The aim of this pilot study is an identification of genetic loci in human genome which could modify susceptibility to syphilis. We have selected several single nucleotide polymorphisms (SNPs) in immunity genes which may have affected immune response to T. pallidum. To clarify SNPs function in pathogenesis of syphilis, we carried out a case-control study. A case group comprised patients diagnosed with syphilis (15 individuals) and control group consisted of patients diagnosed as negative (21 individuals). Genotyping of all SNPs was carried out by Sanger sequencing and the results were statistically analysed. Despite the fact that our sample size is small we have identified rs5743708 in TLR2 gene as a protective factor for heterozygotes (p = 0,046). Toll-like receptor 2 (TLR2) is expressed on monocytes and dendritic cells where it binds triacylated lipopeptides. Although virulence factors of T. pallidum are not known, it is believed that the main antigens are lipopeptides. Therefore this body of evidence serves as the basis for follow up study.
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