A genome-wide association analysis of serum iron concentrations.

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.

journal_name

Blood

journal_title

Blood

authors

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

doi

10.1182/blood-2009-07-232496

subject

Has Abstract

pub_date

2010-01-07 00:00:00

pages

94-6

issue

1

eissn

0006-4971

issn

1528-0020

pii

blood-2009-07-232496

journal_volume

115

pub_type

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