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. T

SUBMITTER: Pichler I 

PROVIDER: S-EPMC3043660 | biostudies-literature | 2011 Mar

REPOSITORIES: biostudies-literature