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Complement polymorphism in Greece.

C D Triantaphyllidis¹, A Ad'hiah, J Karkousis

¹Division of Human Genetics, School of Pathological Sciences, University of Newcastle Upon Tyne, UK.

Annals of Human Biology

|September 1, 1989

Summary

Genetic variations in complement components C2, C3, C4, and BF were analyzed in Northern Greeks. A novel C2*A allele, previously unseen in European Caucasoids, was identified, alongside C4 gene duplications.

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Area of Science:

Immunogenetics
Human Genetics
Complement System Biology

Background:

The complement system is crucial for innate immunity.
Polymorphisms in complement genes (C2, C3, C4, BF) can influence immune response.
Understanding regional genetic variations is important for population genetics and disease association studies.

Purpose of the Study:

To investigate the allele frequencies and polymorphisms of complement components C2, C3, C4, and BF in a Northern Greek population.
To identify any rare or novel variants within these complement genes.

Main Methods:

Analysis of complement component polymorphisms (C2, C3, C4, BF).
Study conducted on 166 unrelated individuals from Northern Greece.
Allele frequency calculations and comparison with existing European data.

Main Results:

C3*F and BF*F allele frequencies in Greeks fall within the reported European range.
A rare C2C/C2A heterozygote variant was identified in one Greek individual, with the C2*A allele being novel in European Caucasoids.
Six different alleles were observed for both C4A and C4B loci.
Low frequency of null alleles at C4A locus and a high incidence of gene duplications in the C4 system were noted.

Conclusions:

The genetic profile of C3 and BF in Greeks aligns with broader European patterns.
The discovery of the C2*A allele in European Caucasoids highlights potential unique genetic contributions within specific populations.
The observed C4 gene duplications and null allele frequencies suggest specific evolutionary pressures or population dynamics affecting this complement locus in the studied group.

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