The A736V TMPRSS6 polymorphism influences hepatic iron overload in nonalcoholic fatty liver disease.

ABSTRACT:

Background & aims

Hepatic iron accumulation due to altered trafficking is frequent in patients with nonalcoholic fatty liver disease (NAFLD), and is associated with more severe liver damage and hepatocellular carcinoma. The p.Ala736Val TMPRSS6 variant influences iron metabolism regulating the transcription of the hepatic hormone hepcidin, but its role in the pathogenesis of iron overload disorders is controversial. Aim of this study was to evaluate the whether the TMPRSS6 p.Ala736Val variant influences hepatic iron accumulation in a well-characterized series of Italian patients with histological NAFLD.

Methods

216 patients with histological NAFLD. TMPRSS6 and HFE variants were assessed by allele specific PCR, liver histology by the NAFLD activity score and Perls' staining fo

SUBMITTER: Valenti L 

PROVIDER: S-EPMC3489825 | biostudies-literature | 2012

REPOSITORIES: biostudies-literature