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

Daniel L. Koller, Erik A. Imel, Dongbing Lai, Leah R. Padgett, Dena Acton, Amie Gray, Munro Peacock, Michael J. Econs, Tatiana Foroud

Research output: Contribution to journalArticle

2 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)50-53
Number of pages4
JournalBlood Cells, Molecules, and Diseases
StatePublished - Mar 1 2016


  • GWAS
  • Hemochromatosis
  • Iron
  • Premenopausal
  • Transferrin

ASJC Scopus subject areas

  • Molecular Medicine
  • Molecular Biology
  • Hematology
  • Cell Biology

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