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SNPs in DNA repair genes associated to meningitis and host immune response

Thayse Azevedo da Silva1, Fabrícia Lima Fontes, Leonam Gomes Coutinho

  • 1Departamento de Biologia Celular e Genética, Universidade Federal do Rio Grande do Norte (UFRN), Av. Salgado Filho s/n, 59072-970 Natal, RN, Brazil.

Mutation Research
|June 10, 2011
PubMed

Insights

Genetic variations in DNA repair genes like APE1, OGG1, and PARP-1 are linked to meningitis. Specific single nucleotide polymorphisms (SNPs) were associated with increased disease risk and altered immune responses in patients.

Area of Science:

  • Genetics
  • Immunology
  • Neuroscience

Background:

  • DNA repair enzymes AP endonuclease 1 (APE1), OGG1, and PARP-1 are implicated in inflammatory responses.
  • Single nucleotide polymorphisms (SNPs) in these genes may influence susceptibility to inflammatory diseases like meningitis.

Purpose of the Study:

  • To investigate the association between APE1 Asn148Glu, OGG1 Ser326Cys, and PARP-1 Val762Ala SNPs and meningitis.
  • To evaluate the impact of these SNPs on DNA damage, immune markers, and cytokine profiles in meningitis patients.

Main Methods:

  • Genotyping of APE1, OGG1, and PARP-1 SNPs using PIRA-PCR or PCR-RFLP.
  • Assessment of genomic DNA damage using Fpg treatment.
  • Measurement of IgG, IgA, cytokines, and chemokines via Bio-Plex assays.

Main Results:

  • Increased frequency of APE1 Glu allele and OGG1 Cys/Cys genotype observed in bacterial meningitis (BM) and aseptic meningitis (AM) patients.
  • Combined SNPs showed higher occurrence in BM patients, suggesting disease association.
  • SNPs affected DNA repair activity and altered IgG production.
  • APE1 Glu allele correlated with reduced levels of IL-6, IL-1Ra, MCP-1/CCL2, and IL-8/CXCL8 in BM patients.

Conclusions:

  • The studied SNPs in APE1, OGG1, and PARP-1 are potentially associated with meningitis.
  • These genetic variations may influence DNA repair mechanisms and immune system regulation in meningitis.

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