Identification of syphilis susceptibility locus - a pilot study

a 2011

Identification of syphilis susceptibility locus - a pilot study

MUSILOVÁ, Jana a David ŠMAJS

Základní údaje

Originální název

Identification of syphilis susceptibility locus - a pilot study

Autoři

MUSILOVÁ, Jana a David ŠMAJS

Vydání

XV. Setkání biochemiků a molekulárních biologů, Brno, 1.-2.11.2011, 2011

Další údaje

Jazyk

angličtina

Typ výsledku

Konferenční abstrakt

Obor

10600 1.6 Biological sciences

Stát vydavatele

Maďarsko

Utajení

není předmětem státního či obchodního tajemství

Organizační jednotka

Lékařská fakulta

Klíčová slova anglicky

syphilis; TLR2

Změněno: 17. 1. 2012 13:36, Mgr. Marie Zobaníková, Ph.D.

Anotace

V originále

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.

Návaznosti

GA310/07/0321, projekt VaV

Název: Komparativní genomové sekvencování patogenních treponem a transkriptomová analýza T. pallidum ssp. pallidum

Investor: Grantová agentura ČR, Komparativní genomové sekvencování patogenních treponem a transkriptomová analýza T. pallidum ssp. pallidum

MSM0021622415, záměr

Název: Molekulární podstata buněčných a tkáňových regulací

Investor: Ministerstvo školství, mládeže a tělovýchovy ČR, Molekulární podstata buněčných a tkáňových regulací

Citovat

MUSILOVÁ, Jana a David ŠMAJS. Identification of syphilis susceptibility locus - a pilot study. In XV. Setkání biochemiků a molekulárních biologů, Brno, 1.-2.11.2011. 2011.

@proceedings{965714,
   author = {Musilová, Jana and Šmajs, David},
   booktitle = {XV. Setkání biochemiků a molekulárních biologů, Brno, 1.-2.11.2011},
   keywords = {syphilis; TLR2},
   language = {eng},
   title = {Identification of syphilis susceptibility locus - a pilot study},
   year = {2011}
}

TY  - CONF
ID  - 965714
AU  - Musilová, Jana - Šmajs, David
PY  - 2011
TI  - Identification of syphilis susceptibility locus - a pilot study
KW  - syphilis
KW  - TLR2
N2  - 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.
ER  -

MUSILOVÁ, Jana a David ŠMAJS. Identification of syphilis susceptibility locus - a pilot study. In \textit{XV. Setkání biochemiků a molekulárních biologů, Brno, 1.-2.11.2011}. 2011.

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