Fatty Liver Disease: When the Liver Speaks Through the Genes

Non-alcoholic fatty liver disease (NAFLD) is the most common liver disorder in developed countries and is now evolving into a major public health issue. More than 25% of the global population has fat accumulation in the liver without alcohol consumption, with this percentage skyrocketing in individuals with obesity, type 2 diabetes, or metabolic syndrome.

However, the most important aspect is not just the presence of fat in the liver — but whether this condition can progress. In some people, NAFLD remains mild and stable. In others, it gradually leads to steatohepatitis (NASH), fibrosis, cirrhosis, and in certain cases, hepatocellular carcinoma (HCC). The reason this happens does not solely depend on weight or diet, but to a large extent on their genetic background (Bianco et al., J Hepatol 2021;74(4):775–782).

The GENOSOPHY® genetic test offers new opportunities to understand NAFLD: it analyzes 14 genetic variants related to the development and progression of the disease, and provides a polygenic risk score that enables personalized clinical decisions and targeted interventions.


Five Reasons to Know Your Genetic Profile in Relation to NAFLD

  1. A combination of certain genetic variants increases the risk up to 5-fold
    Individuals with specific variants in genes such as PNPLA3, TM6SF2, GCKR, or MBOAT7 are 3 to 5 times more likely to develop severe forms of NAFLD. The combination of genetic risk and factors such as obesity or diabetes multiplies the chance of complications.

  2. Genetic information can be used preventively — not just diagnostically
    Genetic risk analysis is not limited to individuals already diagnosed. It can be used preventively in people with metabolic syndrome or family history, allowing early targeting of liver health before damage appears.

  3. Genetic testing identifies who needs more intensive medical monitoring
    Not all patients with fatty liver are at equal risk. The polygenic score helps identify those with a higher likelihood of disease progression, allowing priority for imaging tests, elastography, or more frequent medical follow-ups.

  4. The genetic profile guides the choice of dietary and therapeutic strategies
    Genetic insights into lipid, insulin, and inflammation metabolism are used to design a personalized nutrition and physical activity plan. In high-risk individuals, additional medical interventions or clinical studies may be recommended.


How the Test is Performed

  • A saliva sample is collected through an easy and painless process.

  • 14 genetic variants related to NAFLD and its complications are analyzed.

  • A polygenic risk score is calculated using GENOSOPHY®’s award-winning algorithm.

  • Results are delivered within 5–6 weeks, along with clinical interpretation.

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