The liver is one of the main storage sites for iron, an essential element for life, although its overload is toxic. Excessive iron content in the liver has been linked to various liver and metabolic diseases such as hereditary hemochromatosis.
Liver iron levels
Iron is an essential mineral for multiple biological functions, including oxygen transport in hemoglobin and enzymatic activity. The liver is one of the main storage organs for this mineral, however, excessive accumulation of this mineral at the hepatic level can have severe consequences.
Hepatic iron overload refers to the abnormal and excessive accumulation of iron within hepatocytes, Kupffer cells, or both, mainly in the form of ferritin particles and hemosiderin aggregates. Although the body regulates the intestinal absorption of iron, it has no effective mechanism to regulate its elimination, which can lead to systemic iron overload if there is a sustained increased supply. When ferritin storage capacity is exceeded, free iron accumulates in the cells of the affected organ, forming insoluble hemosiderin aggregates that can trigger cellular damage and progressive organ dysfunction. This condition is not only associated not only with serious liver diseases such as cirrhosis and hepatocellular carcinoma, but also with metabolic disorders such as type 2 diabetes, arterial hypertension, ovarian ovarian syndrome, and other metabolic disorders.This condition is not only associated with serious liver diseases such as cirrhosis and hepatocellular carcinoma, but also with metabolic disorders such as type 2 diabetes, arterial hypertension, polycystic ovary syndrome and dismetabolic iron overload syndrome (DIOS), which affects a significant proportion of the general population.
Number of observed variants
13.5 million variants
Number of risk loci
10 loci
Genes analyzed
Bibliography
Liu Y, Basty N, Whitcher B, et al. Genetic architecture of 11 organ traits derived from abdominal MRI using deep learning. Elife. 2021 Jun 15;10:e65554.
Wilman HR, Parisinos CA, Atabaki-Pasdar N, et al. Genetic studies of abdominal MRI data identify genes regulating hepcidin as major determinants of liver iron concentration. J Hepatol. 2019 Sep;71(3):594-602.
