Genetic variants of transferrin in cystic fibrosis

Abstract

Genetic polymorphism of serum transferrin (Tf) was initially studied in order to be able to differentiate between protein genetic variants and congenital disorders of glycosylation (CDG). Of the seven different genotypes detected, a significantly higher (p=0.0003) frequency of TfC1C2 was found among 92 patients with cystic fibrosis; only the most severe DF508 mutation (in either homozygous or heterozygous form) has been regularly present in the carriers of this Tf genotype, in contrast to those with the most common C1C1 variant.

Association of TfC2 allele with various malfunctions has been noticed before, but so far unresolved.