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Item Genome-wide association study of serum iron phenotypes in premenopausal women of European descent(Elsevier, 2016-03) Koller, Daniel L.; Imel, Erik A.; Lai, Dongbing; Padgett, Leah R.; Acton, Dena; Gray, Amie; Peacock, Munro; Econs, Michael J.; Foroud, Tatiana; Department of Medical & Molecular Genetics, IU School of MedicineA genome-wide association study was performed in 1,130 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.