[PMID 21978626] Four variants in transferrin TF and HFE genes as potential markers of iron deficiency anaemia risk: two in the transferrin gene TF (rs3811647, rs1799852) and two in the HFE gene (C282Y, H63D), explain 35% of the genetic variation or heritability of serum transferrin in menstruating women. The minor allele of rs3811647 was associated with higher serum transferrin levels and lower transferrin saturation, while the minor alleles of rs1799852 and the C282Y and H63D mutations of HFE were associated with lower serum transferrin levels.
[PMID 19084217] serum transferrin: Two SNPs on TF gene, rs1799852 (MAF 0.09), and rs2280673 (MAF 0.34), which were independently influencing variation in serum transferrin (nominal p = 4.7 × 10−6 and 2.3 × 10−4, respectively).
rs1799852 and rs2280673 were also associated with serum ferritin (p = 0.04 and 0.003) but not with serum iron or transferrin saturation.
These findings are potentially important for our understanding of iron metabolism and of regulation of hepatic protein secretion, and also strongly support the hypothesis that the genetic architecture of some endophenotypes may be simpler than that of disease.