Gene variants responsible for excess liver iron

Researchers found that excess liver iron was most likely a systemic problem related to genes rather than an organ-related problem, according to a presentation at this year’s conference of the European Society of Human Genetics.

Hanieh Yaghootkar, MD, PhD, from the University of Exeter, and colleagues carried out genome-wide association studies on liver iron content measured with magnetic resonance imaging in 8,200 volunteers to assess genetic variants associated with specific conditions.

“This is the first time such a study has been carried out in an unselected, large population,” Yaghootkar said in a press release.

The researchers found three independent genetic variants associated with higher liver iron and involved in the production of hepcidin. They validated the results in 1,500 individuals whose data were available from the Diabetes on Patient Stratification Consortium.

They also used a genetic approach to explore the causal link between higher waist-to-hip ratio and elevated liver iron content, finding genetic evidence that higher central obesity correlated with increased liver iron.

Yaghootkar and colleagues are continuing to assess MRI results for 100,000 individuals in the UK Biobank database.

“This will allow us to find many more genetic factors associated with this trait,” Yaghootkar said in the release. “We are also interested in performing such studies in other ethnicities, since our current results are only valid for people of European ancestry.” – by Talitha Bennett

Reference: Yaghootkar H, et al. Abstract C. 21.5. Presented at: European Society of Human Genetics; June 15–18, 2019; Gothenburg, Sweden.

Disclosure: Healio Gastroenterology and Liver Disease was unable to determine relevant financial disclosures at the time of publication.