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Polymorphism of the complement components in human pathology

M Brai1, P Accardo, D Bellavia

  • 1Cattedra di Immunologia, Università degli Studi di Palermo.

Annali Italiani Di Medicina Interna : Organo Ufficiale Della Societa Italiana Di Medicina Interna
|July 1, 1994
PubMed
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The complement system, crucial for innate immunity, involves numerous proteins. Certain complement factor gene variations, particularly C4 null alleles, are linked to immune-mediated diseases like lupus.

Area of Science:

  • Immunology
  • Genetics

Background:

  • The complement system is a key component of innate immunity, working with acquired immunity to combat pathogens and clear immune complexes.
  • It comprises over 20 plasma proteins and 9 membrane proteins, with some components encoded by polymorphic HLA-linked genes (class III antigens).

Purpose of the Study:

  • To explore the polymorphism within the complement system, focusing on HLA-linked and unlinked factors.
  • To investigate the association between complement gene variations, especially C4 null alleles, and immune-mediated diseases.

Main Methods:

  • Analysis of polymorphic complement factors including factor B, C2, C4, C3, C6, and C7.
  • Examination of complement receptors and membrane control proteins for polymorphism.
  • Review of associations between complement gene variations and specific immune-mediated diseases.

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Main Results:

  • Complement factor C4 genes exhibit significant polymorphism, with common null alleles (C4Q0) at C4A and C4B loci.
  • Other polymorphic factors include C3, C6, and C7, with varying allele frequencies.
  • C4Q0 is notably associated with immune-mediated diseases such as systemic lupus erythematosus, insulin-dependent diabetes mellitus, and celiac disease.

Conclusions:

  • Complement system gene polymorphism, particularly C4Q0, plays a role in the pathogenesis of various immune-mediated diseases.
  • While genetic counseling for HLA-associated diseases is not always definitive, studying complement genetics aids in understanding disease mechanisms.