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Genome-wide association studies have convincingly shown that single nucleotide polymorphisms (SNPs) in HFE and TMPRSS6 are associated with iron parameters. It was commonly thought that these associations could be explained by the intermediate effect on hepcidin concentration. A recent study in an isolated Italian population, however, concluded that these associations were not exclusively dependent on hepcidin values. We report here the second study to investigate the role of hepcidin in the associations between common variants in HFE and TMPRSS6 with iron parameters.

journal of medical genetics

Associations of common variants in<i>HFE</i>and<i>TMPRSS6</i>with iron parameters are independent of serum hepcidin in a general population: a replication study

Associations of common variants inHFEandTMPRSS6with iron parameters are independent of serum hepcidin in a general population: a replication study