title: 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: Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN 46202, USA. Electronic address: dkoller@iu.edu.
authors: Daniel L
authors: DL
authors: Koller
authors: Department of Medicine, Indiana University School of Medicine, Indianapolis, IN 46202, USA.
authors: Erik A
authors: EA
authors: Imel
authors: Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN 46202, USA.
authors: Dongbing
authors: D
authors: Lai
authors: Department of Medicine, Indiana University School of Medicine, Indianapolis, IN 46202, USA.
authors: Leah R
authors: LR
authors: Padgett
authors: Department of Medicine, Indiana University School of Medicine, Indianapolis, IN 46202, USA.
authors: Dena
authors: D
authors: Acton
authors: Department of Medicine, Indiana University School of Medicine, Indianapolis, IN 46202, USA.
authors: Amie
authors: A
authors: Gray
authors: Department of Medicine, Indiana University School of Medicine, Indianapolis, IN 46202, USA.
authors: Munro
authors: M
authors: Peacock
authors: Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN 46202, USA; Department of Medicine, Indiana University School of Medicine, Indianapolis, IN 46202, USA.
authors: Michael J
authors: MJ
authors: Econs
authors: Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN 46202, USA.
authors: Tatiana
authors: T
authors: Foroud
mesh_terms: D000328:Adult; D002896:Chromosomes, Human, Pair 6 / Q000737:chemistry; D005260:Female; D015870:Gene Expression; D055106:Genome-Wide Association Study; D006432:Hemochromatosis / Q000097:blood / Q000208:ethnology / Q000235:genetics* / Q000473:pathology; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006801:Humans; D007501:Iron / Q000097:blood*; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D010641:Phenotype; D011110:Polymorphism, Genetic; D017697:Premenopause / Q000097:blood / Q000235:genetics*; D017422:Sequence Analysis, DNA; D050609:Sodium-Phosphate Cotransporter Proteins, Type I / Q000235:genetics*; D014168:Transferrin / Q000235:genetics*; D044465:White People
chemical_list: C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins; C493548:SLC17A2 protein, human; D050609:Sodium-Phosphate Cotransporter Proteins, Type I; D014168:Transferrin; D007501:Iron
keywords: GWAS; Hemochromatosis; Iron; Premenopausal; Transferrin