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

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43 Scopus citations


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) ≤12 μg/L (cases) and controls (SF >100 μg/L in men, SF >50 μg/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 = 3.7×10-6) 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<4.4×10-5); six SNPs replicated in other ethnicities (p<0.01). SNP rs10904850 in the CUBN gene on 10p13 was associated with serum iron in African Americans (P = 1.0×10-5). These results confirm known associations with iron measures and give unique evidence of their role in different ethnicities, suggesting origins in a common founder.

Original languageEnglish (US)
Article numbere38339
JournalPloS one
Issue number6
StatePublished - Jun 22 2012


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