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

Abstract

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.

• Authors: Daniel L Koller, Erik A Imel, Dongbing Lai, Leah R Padgett, Dena Acton, Amie Gray, Munro Peacock, Michael J Econs, Tatiana Foroud
• Journal: Blood cells, molecules & diseases (Blood Cells Mol Dis) Vol. 57 Pg. 50-3 (Mar 2016) ISSN: 1096-0961 [Electronic] United States
• PMID: 26852655 (Publication Type: Journal Article, Research Support, N.I.H., Extramural)
• Copyright: Copyright © 2015 Elsevier Inc. All rights reserved.

Chemical References

• HFE protein, human
• Hemochromatosis Protein
• Histocompatibility Antigens Class I
• Membrane Proteins
• SLC17A2 protein, human
• Sodium-Phosphate Cotransporter Proteins, Type I
• Transferrin
• Iron

Topics

• Adult
• Chromosomes, Human, Pair 6 (chemistry)
• Female
• Gene Expression
• Genome-Wide Association Study
• Hemochromatosis (blood, ethnology, genetics, pathology)
• Hemochromatosis Protein
• Histocompatibility Antigens Class I (genetics)
• Humans
• Iron (blood)
• Membrane Proteins (genetics)
• Middle Aged
• Phenotype
• Polymorphism, Genetic
• Premenopause (blood, genetics)
• Sequence Analysis, DNA
• Sodium-Phosphate Cotransporter Proteins, Type I (genetics)
• Transferrin (genetics)
• White People