The DMT1 IVS4+44C>A polymorphism and the risk of iron deficiency anemia in children with celiac disease.

ABSTRACT:

Background

Iron deficiency anemia in celiac disease is related to impaired duodenal mucosal uptake, due to villous atrophy. Iron enters the enterocytes through an apical divalent metal transporter, DMT1. Different DMT1 transcripts have been identified, depending on the presence of an iron-responsive element that allows DMT1 up-regulation during iron starvation. An intronic DMT1 polymorphism, IVS4+44C>A, has been associated with metal toxicity, and the CC-carriers show high iron levels.

Aims

This study investigates the association between DMT1 IVS4+44C>A and anemia in a cohort of 387 Italian celiac children, and the functional role of the polymorphism.

Methods and results

By association analysis, we found that DMT1 IVS4+44-AA genotype confers a four-fold risk of develo

SUBMITTER: Tolone C 

PROVIDER: S-EPMC5638269 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature