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Nutrition & Metabolism
Published in: Nutrition & Metabolism 1/2011

Open Access 01-12-2011 | Research

Four variants in transferrin and HFE genes as potential markers of iron deficiency anaemia risk: an association study in menstruating women

Authors: Ruth Blanco-Rojo, Carlos Baeza-Richer, Ana M López-Parra, Ana M Pérez-Granados, Anna Brichs, Stefania Bertoncini, Alfonso Buil, Eduardo Arroyo-Pardo, Jose M Soria, M Pilar Vaquero

Published in: Nutrition & Metabolism | Issue 1/2011

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Abstract

Background

Iron deficiency anaemia is a worldwide health problem in which environmental, physiologic and genetic factors play important roles. The associations between iron status biomarkers and single nucleotide polymorphisms (SNPs) known to be related to iron metabolism were studied in menstruating women.

Methods

A group of 270 Caucasian menstruating women, a population group at risk of iron deficiency anaemia, participated in the study. Haematological and biochemical parameters were analysed and 10 selected SNPs were genotyped by minisequencing assay. The associations between genetic and biochemical data were analysed by Bayesian Model Averaging (BMA) test and decision trees. Dietary intake of a representative subgroup of these volunteers (n = 141) was assessed, and the relationship between nutrients and iron biomarkers was also determined by linear regression.

Results

Four variants, two in the transferrin gene (rs3811647, rs1799852) and two in the HFE gene (C282Y, H63D), explain 35% of the genetic variation or heritability of serum transferrin in menstruating women. The minor allele of rs3811647 was associated with higher serum transferrin levels and lower transferrin saturation, while the minor alleles of rs1799852 and the C282Y and H63D mutations of HFE were associated with lower serum transferrin levels. No association between nutrient intake and iron biomarkers was found.

Conclusions

In contrast to dietary intake, these four SNPs are strongly associated with serum transferrin. Carriers of the minor allele of rs3811647 present a reduction in iron transport to tissues, which might indicate higher iron deficiency anaemia risk, although the simultaneous presence of the minor allele of rs1799852 and HFE mutations appear to have compensatory effects. Therefore, it is suggested that these genetic variants might potentially be used as markers of iron deficiency anaemia risk.
Appendix
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Metadata
Title
Four variants in transferrin and HFE genes as potential markers of iron deficiency anaemia risk: an association study in menstruating women
Authors
Ruth Blanco-Rojo
Carlos Baeza-Richer
Ana M López-Parra
Ana M Pérez-Granados
Anna Brichs
Stefania Bertoncini
Alfonso Buil
Eduardo Arroyo-Pardo
Jose M Soria
M Pilar Vaquero
Publication date
01-12-2011
Publisher
BioMed Central
Published in
Nutrition & Metabolism / Issue 1/2011
Electronic ISSN: 1743-7075
DOI
https://doi.org/10.1186/1743-7075-8-69

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