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Genetic studies of abdominal MRI data published by Journal of Hepatology

19 June 2019

A new paper authored by Constantinos Parisinos of the IHI and Henry Wilman of University of Westminster (joint co-authors) aiming to identify genetic variants influencing liver iron content and use genetics to understand link to other traits and diseases was published today.

GWAS

Excess liver iron content is common and commonly linked to hepatic and extrahepatic disease risk. A group of researchers co-led by Constantinos Parisinos, IHI and Henry Wilman, University of Westminster, aimed to identify genetic variants influencing liver iron content and use genetics to understand its link to other traits and diseases.

The group performed a genome-wide association study (GWAS) in 8,289 individuals in the UK Biobank with MRI quantified liver iron then carried out statistical analysis to test the causal effects of certain traits (predominantly metabolic traits) on liver iron content. Finally, they tested phenome-wide associations between liver iron variants and 770 traits and diseases.

NB a person’s genome is all of their genetic material (including both coding genes and noncoding DNA), their phenome is the full set of their proteins.

The group identified three independent genetic variants associated with liver iron content two of which account for ~85% of all cases of hereditary haemochromatosis, a genetic disorder characterized by excessive intestinal absorption of dietary iron, resulting in a pathological increase in total body iron stores. They also found that higher obesity levels play a causal role in increased liver iron content. Their phenome-wide association analysis demonstrated shared pathogenic mechanisms for elevated liver iron, high blood pressure, cirrhosis, malignancies, neuropsychiatric and rheumatological conditions.

This study provides genetic evidence that mechanisms underlying higher liver iron content are likely systemic rather than organ specific, that higher central obesity is causally associated with higher liver iron, and that liver iron shares common aetiology with multiple metabolic and non-metabolic diseases.

To read the full paper visit: https://doi.org/10.1016/j.jhep.2019.05.032

Wilman HR,* Parisinos CA,* et al. Genetic studies of abdominal MRI data identify genes regulating hepcidin as major determinants of liver iron concentration. Journal of Hepatology 2019 doi.org/10.1016/j.jhep.2019.05.032