Genetic studies of abdominal MRI data identify genes regulating hepcidin as major determinants of liver iron concentration.

ABSTRACT:

Background & aims

Excess liver iron content is common and is linked to the risk of hepatic and extrahepatic diseases. We aimed to identify genetic variants influencing liver iron content and use genetics to understand its link to other traits and diseases.

Methods

First, we performed a genome-wide association study (GWAS) in 8,289 individuals from UK Biobank, whose liver iron level had been quantified by magnetic resonance imaging, before validating our findings in an independent cohort (n = 1,513 from IMI DIRECT). Second, we used Mendelian randomisation to test the causal effects of 25 predominantly metabolic traits on liver iron content. Third, we tested phenome-wide associations between liver iron variants and 770 traits and disease outcomes.

Results

We identified

SUBMITTER: Wilman HR 

PROVIDER: S-EPMC6694204 | biostudies-literature | 2019 Sep

REPOSITORIES: biostudies-literature