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Joint association of complement component 3 and CC-cytokine ligand2 (CCL2) or complement component 3 and CFH

Mortaza Bonyadi1,2, Mohammad Hossein Jabbarpoor Bonyadi3, Mehdi Yaseri4

  • 1a Center of Excellence for Biodiversity, Faculty of Natural Sciences , University of Tabriz , Tabriz , Iran.

Ophthalmic Genetics
|January 18, 2017
PubMed

Insights

Genetic variations in complement component 3 (C3) and complement factor H (CFH) show strong synergistic effects on advanced age-related macular degeneration (AMD) risk. The CC-cytokine ligand 2 (CCL2) gene also interacts with C3, increasing AMD susceptibility.

Area of Science:

  • Genetics
  • Ophthalmology
  • Immunology

Background:

  • Advanced age-related macular degeneration (AMD) is a complex disease with genetic components.
  • Complement component 3 (C3) R102G and complement factor H (CFH) Y402H polymorphisms are known risk factors for AMD.
  • The role of CC-cytokine ligand 2 (CCL2) -2518 in AMD, especially in combination with other genetic factors, requires further investigation.

Purpose of the Study:

  • To investigate the combined effect of C3 R102G, CFH Y402H, and CCL2-2518 polymorphisms on the risk of advanced AMD.
  • To determine if synergistic interactions exist between these genetic polymorphisms in AMD development.

Main Methods:

  • A case-control study involving 233 patients with advanced AMD and 159 healthy controls.
  • Genotyping of C3 R102G, CFH Y402H, and CCL2-2518 polymorphisms using polymerase chain reaction and restriction fragment length polymorphism.
  • Statistical analysis to assess individual and joint effects, including calculation of odds ratios (OR), confidence intervals (CI), and synergy indices.

Main Results:

  • A significant synergistic risk was observed for the combined genotypes of CFH Y402H and C3 R102G (adjusted OR = 22.65).
  • The interaction between CCL2-2518 and C3 R102G genotypes also demonstrated a super-additive risk (adjusted AP = 24.7%).
  • The attributable proportion of risk due to C3-CFH interaction was 90.4%, and due to C3-CCL2 interaction was 24.7% for advanced AMD.

Conclusions:

  • C3 R102G and CFH Y402H polymorphisms exhibit a strong synergistic association with advanced AMD risk.
  • CCL2-2518, in conjunction with the at-risk C3 genotype, significantly influences AMD susceptibility.
  • These findings highlight the importance of combined genetic analysis in understanding AMD pathogenesis.
Abstract

Keywords:
Age-related macular degeneration (AMD); C3 rs2230199 (R102G); CCL2-2518 (rs1024611); CFH Y402H rs1061170; genetic polymorphism; synergistic association

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