Agenome-wide association analysis of serum iron concentrations

Toshiko Tanaka, Cindy N. Roy, Wenliang Yao, Amy Matteini, Richard D. Semba, Dan Arking, Jeremy D. Walston, Linda P. Fried, Andrew Singleton, Jack Guralnik, Gonçalo R. Abecasis, Stefania Bandinelli, Dan L. Longo, Luigi Ferrucci

Research output: Contribution to journalArticle

Abstract

To investigate genetic variants that affect iron concentrations in persons not affected by overt genetic disorders of iron metabolism, a genome-wide association study was conducted in the InCHIANTI Study (N = 1206) and the Baltimore Longitudinal Study of Aging (N = 713). The top 2 single-nucleotide polymorphisms were examined for replication in the Women's Health and Aging Study (WHAS) I and II (N = 569). The single-nucleotide polymorphism most strongly associated with lower serum iron concentration was rs4820268 (P = 5.12 x 10 -9), located in exon 13 of the transmembrane protease serine 6 (TMPRSS6) gene, an enzyme that promotes iron absorption and recycling by inhibiting hepcidin antimicrobial peptide transcription. The allele associated with lower iron concentrations was also associated with lower hemoglobin levels, smaller red cells, and more variability in red cell size (high red blood cell distribution width). Our results confirm the association of TMPRSS6 variants with iron level and provide further evidence of association with other anemia-related phenotypes.

Original languageEnglish (US)
Pages (from-to)94-96
Number of pages3
JournalBlood
Volume115
Issue number1
DOIs
StatePublished - Jan 7 2010

Fingerprint

Iron
Serum
Cells
Serine Proteases
Polymorphism
Single Nucleotide Polymorphism
Nucleotides
Genes
Aging of materials
Hepcidins
Baltimore
Inborn Genetic Diseases
Erythrocyte Indices
Genome-Wide Association Study
Recycling
Women's Health
Transcription
Cell Size
Metabolism
Longitudinal Studies

ASJC Scopus subject areas

  • Hematology
  • Biochemistry
  • Cell Biology
  • Immunology

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Agenome-wide association analysis of serum iron concentrations. / Tanaka, Toshiko; Roy, Cindy N.; Yao, Wenliang; Matteini, Amy; Semba, Richard D.; Arking, Dan; Walston, Jeremy D.; Fried, Linda P.; Singleton, Andrew; Guralnik, Jack; Abecasis, Gonçalo R.; Bandinelli, Stefania; Longo, Dan L.; Ferrucci, Luigi.

In: Blood, Vol. 115, No. 1, 07.01.2010, p. 94-96.

Research output: Contribution to journalArticle

Tanaka, T, Roy, CN, Yao, W, Matteini, A, Semba, RD, Arking, D, Walston, JD, Fried, LP, Singleton, A, Guralnik, J, Abecasis, GR, Bandinelli, S, Longo, DL & Ferrucci, L 2010, 'Agenome-wide association analysis of serum iron concentrations', Blood, vol. 115, no. 1, pp. 94-96. https://doi.org/10.1182/blood-2009-07-232496
Tanaka, Toshiko ; Roy, Cindy N. ; Yao, Wenliang ; Matteini, Amy ; Semba, Richard D. ; Arking, Dan ; Walston, Jeremy D. ; Fried, Linda P. ; Singleton, Andrew ; Guralnik, Jack ; Abecasis, Gonçalo R. ; Bandinelli, Stefania ; Longo, Dan L. ; Ferrucci, Luigi. / Agenome-wide association analysis of serum iron concentrations. In: Blood. 2010 ; Vol. 115, No. 1. pp. 94-96.
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