Genome-wide association study of serum iron phenotypes in premenopausal women of European descent

A genome-wide association study was performed on 1130 premenopausal women to detect common variants associated with three serum iron-related phenotypes. Total iron binding capacity was strongly associated (p = 10− 14) with variants in and near the TF gene (transferrin), the serum iron transporting protein, and with variants in HFE (p = 4 × 10− 7), which encodes the human hemochromatosis gene. Association was also detected between percent iron saturation (p = 10− 8) and variants in the chromosome 6 region containing both HFE and SLC17A2, which encodes a phosphate transport protein. No significant associations were detected with serum iron, but variants in HFE were suggestive (p = 10− 6). Our results corroborate prior studies in older subjects and demonstrate that the association of these genetic variants with iron phenotypes can be detected in premenopausal women.