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Article . 2011
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Human Molecular Genetics
Article . 2010 . Peer-reviewed
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Identification of a common variant in the TFR2 gene implicated in the physiological regulation of serum iron levels

Authors: Pichler Irene; Minelli Cosetta; Sanna Serena; Tanaka Toshiko; Schwienbacher Christine; Naitza Silvia; Porcu Eleonora; +25 Authors

Identification of a common variant in the TFR2 gene implicated in the physiological regulation of serum iron levels

Abstract

The genetic determinants of variation in iron status are actively sought, but remain incompletely understood. Meta-analysis of two genome-wide association (GWA) studies and replication in three independent cohorts was performed to identify genetic loci associated in the general population with serum levels of iron and markers of iron status, including transferrin, ferritin, soluble transferrin receptor (sTfR) and sTfR-ferritin index. We identified and replicated a novel association of a common variant in the type-2 transferrin receptor (TFR2) gene with iron levels, with effect sizes highly consistent across samples. In addition, we identified and replicated an association between the HFE locus and ferritin and confirmed previously reported associations with the TF, TMPRSS6 and HFE genes. The five replicated variants were tested for association with expression levels of the corresponding genes in a publicly available data set of human liver samples, and nominally statistically significant expression differences by genotype were observed for all genes, although only rs3811647 in the TF gene survived the Bonferroni correction for multiple testing. In addition, we measured for the first time the effects of the common variant in TMPRSS6, rs4820268, on hepcidin mRNA in peripheral blood (n = 83 individuals) and on hepcidin levels in urine (n = 529) and observed an association in the same direction, though only borderline significant. These functional findings require confirmation in further studies with larger sample sizes, but they suggest that common variants in TMPRSS6 could modify the hepcidin-iron feedback loop in clinically unaffected individuals, thus making them more susceptible to imbalances of iron homeostasis.

Country
Italy
Keywords

Adult, Aged, 80 and over, Male, Adult, Aged, Aged; 80 and over, Cross-Sectional Studies, Female, Genetic Variation, Humans, Iron; blood, Male, Middle Aged, Polymorphism; Single Nucleotide, Receptors; Transferrin; genetics/metabolism, Young Adult, Iron, Genetic Variation, Middle Aged, Polymorphism, Single Nucleotide, Young Adult, Cross-Sectional Studies, Receptors, Transferrin, Humans, Female, Aged

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    71
    popularity
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    Top 10%
    influence
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    Top 10%
    impulse
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    Top 10%
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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
71
Top 10%
Top 10%
Top 10%
bronze