Associations between Single Nucleotide Polymorphisms in Iron-Related Genes and Iron Status in Multiethnic Populations

Christine E. McLaren*, Stela McLachlan, Chad P. Garner, Chris D. Vulpe, Victor R. Gordeuk, John H. Eckfeldt, Paul C. Adams, Ronald T. Acton, Joseph A. Murray, Catherine Leiendecker-Foster, Beverly M. Snively, Lisa F. Barcellos, James D. Cook, Gordon D. McLaren

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

Abstract

The existence of multiple inherited disorders of iron metabolism suggests genetic contributions to iron deficiency. We previously performed a genome-wide association study of iron-related single nucleotide polymorphisms (SNPs) using DNA from white men aged > 25 y and women >50 y in the Hemochromatosis and Iron Overload Screening (HEIRS) Study with serum ferritin (SF) 100 mu g/L in men, SF>50 mu g/L in women). We report a follow-up study of white, African-American, Hispanic, and Asian HEIRS participants, analyzed for association between SNPs and eight iron-related outcomes. Three chromosomal regions showed association across multiple populations, including SNPs in the TF and TMPRSS6 genes, and on chromosome 18q21. A novel SNP rs1421312 in TMPRSS6 was associated with serum iron in whites (p = 3.7x10(-6)) and replicated in African Americans (p = 0.0012). Twenty SNPs in the TF gene region were associated with total iron-binding capacity in whites (p <4.4x10(-5)); six SNPs replicated in other ethnicities (p

Original languageEnglish
Article number38339
Number of pages11
JournalPLoS ONE
Volume7
Issue number6
DOIs
Publication statusPublished - 22 Jun 2012

Keywords

  • OVERLOAD SCREENING HEIRS
  • GENOME-WIDE ASSOCIATION
  • HEREDITARY HEMOCHROMATOSIS
  • TRANSFERRIN RECEPTOR
  • TMPRSS6 GENE
  • DEFICIENCY
  • ANEMIA
  • HOMEOSTASIS
  • MUTATIONS
  • ASSAY

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