The RS855791 polymorphism of TMPRSS6 is not a genetic modifier of hereditary hemochromatosis

Hemochromatosis is associated with homozygosity for the C282Y polymorphism of the HFE gene in more than 80% of patients. In screening studies, the penetrance of this hemochromatosis-associated genotype was 10% to 33%, where environmental and genetic factors have been identified to modify disease expression. Several genome wide association studies have identified the common genetic variant rs855791 of TMPRSS6 polymorphism as a genetic determinant of iron status in healthy subjects. This variant was recently shown to modulate transcription of the iron hormone hepcidin in vitro and determine serum hepcidin levels i…