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Common Genetic Variants in the Complement System and their Potential Link with Disease Susceptibility and Outcome of

Bryan van den Broek1,2,3, Michiel van der Flier1,4,2,3, Ronald de Groot2,3

  • 1Paediatric Infectious Diseases and Immunology, Amalia Children's Hospital, Nijmegen, The Netherlands.

Journal of Innate Immunity
|July 4, 2019
PubMed

Insights

Common genetic variants in the complement system influence immune responses to bacterial pathogens like Streptococcus pneumoniae and Neisseria meningitidis. This review explores how these common variants impact complement activation and inflammation, affecting disease susceptibility.

Area of Science:

  • Immunology
  • Genetics
  • Microbiology

Background:

  • Streptococcus pneumoniae and Neisseria meningitidis are common nasopharyngeal colonizers causing invasive bacterial infections, particularly in children.
  • The complement system is vital for humoral immunity, aiding antibody-mediated clearance of microbes and protecting against bacterial infections.
  • While rare genetic deficiencies in complement increase infection risk, the impact of common genetic variants on disease susceptibility is less understood.

Purpose of the Study:

  • To review the impact of common genetic variants within the complement system on its activation pathways.
  • To explore how common genetic variants influence complement-mediated inflammation.
  • To connect common genetic variations in the complement system to susceptibility to invasive bacterial infections.

Main Methods:

  • Literature review synthesizing current knowledge on common genetic variants in complement genes.
  • Analysis of studies investigating the functional consequences of these variants on complement activation.
  • Examination of epidemiological data linking variants to disease risk.

Main Results:

  • Common genetic variants can alter the efficiency of complement activation.
  • These variants may modulate the inflammatory response generated by complement.
  • Evidence suggests a link between common complement gene variants and susceptibility to infections by S. pneumoniae and N. meningitidis.

Conclusions:

  • Common genetic variations in the complement system are relevant to host defense against bacterial pathogens.
  • Understanding these variants can provide insights into individual susceptibility to invasive bacterial infections.
  • Further research is warranted to fully elucidate the role of common genetic variants in complement-mediated immunity and disease.

Keywords:
Common genetic variantsComplement systemDisease susceptibilityInflammationSingle nucleotide polymorphismsStreptococcus pneumoniae

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