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Characterization of a polymorphism in the coding sequence of FCN3 resulting in a Ficolin-3 (Hakata antigen)

Lea Munthe-Fog1, Tina Hummelshøj, Ying Jie Ma

  • 1Department of Clinical Immunology, University of Copenhagen, 2100 Copenhagen, Denmark.

Molecular Immunology
|February 12, 2008
PubMed

Insights

Genetic variations in the FCN3 gene can cause Ficolin-3 deficiency. A specific FCN3 deletion variant was identified, potentially leading to a novel complement deficiency state.

Area of Science:

  • Immunology
  • Genetics

Background:

  • Ficolin-3 (Hakata antigen) is a pattern recognition molecule in the lectin complement pathway.
  • Understanding genetic contributions to Ficolin-3 levels is crucial for comprehending complement system variations.

Purpose of the Study:

  • To investigate if common genetic variations in the FCN3 gene are associated with Ficolin-3 deficiency.
  • To identify and characterize novel FCN3 gene polymorphisms and their functional impact.

Main Methods:

  • FCN3 gene sequencing in 237 healthy Danish Caucasians.
  • ELISA, SDS-PAGE, and western blotting to analyze Ficolin-3 serum profiles and variant function.
  • Production and characterization of recombinant Ficolin-3 variants.

Main Results:

  • Ficolin-3 serum concentration exhibited a 10-fold variation.
  • A FCN3+1637delC deletion polymorphism (allele frequency 0.011) caused a reading frame shift and C-terminal distortion.
  • Heterozygosity for FCN3+1637delC was linked to lower Ficolin-3 concentrations (P=0.025).
  • Recombinant Ficolin-3 characterization indicated that homozygosity for this deletion leads to Ficolin-3 deficiency.

Conclusions:

  • The FCN3+1637delC deletion variant disrupts Ficolin-3's pattern recognition capabilities.
  • Homozygosity for the FCN3+1637delC deletion may cause Ficolin-3 deficiency, representing a novel complement deficiency state.

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