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What is the genetic disorder that causes fatty liver?

Published in Liver Genetics 2 mins read

While there isn't a single genetic disorder that solely causes fatty liver, a specific gene variation in the PNPLA3 gene is strongly associated with the development of Non-Alcoholic Fatty Liver Disease (NAFLD).

Understanding the Connection

The Role of PNPLA3

  • The PNPLA3 gene influences how our body processes fats.
  • A variation in this gene is believed to lead to:
    • Increased fat production: The liver produces more fat.
    • Decreased fat breakdown: The liver has more difficulty breaking down the fat that it produces.
  • These combined factors result in an accumulation of fat within the liver, which is the hallmark of NAFLD.

NAFLD: A Complex Disease

  • NAFLD is a condition where fat builds up in the liver of people who don't consume excessive amounts of alcohol.
  • It's a complex disorder influenced by multiple factors, not just genetics.
  • Research is ongoing to fully understand how the PNPLA3 gene variation and other genetic factors contribute to NAFLD's development and complications.
  • Other factors besides genetics, such as diet, obesity, and diabetes, can also contribute to NAFLD.
  • The interplay between genetics, lifestyle, and other health conditions determines an individual's risk for NAFLD.


Important Note: It's important to remember that having the PNPLA3 gene variation doesn't guarantee the development of NAFLD. Many people with this variation do not develop fatty liver disease, while some people without the variation do. The presence of this genetic variation is a risk factor but not a sole cause.


Here's a simple summary table:

Genetic Factor Associated Liver Condition Effect
PNPLA3 gene variation NAFLD Increased fat production and decreased fat breakdown in the liver


In conclusion, while the PNPLA3 gene variation is a significant genetic risk factor for NAFLD, fatty liver is a complex condition influenced by several genetic and non-genetic elements. Research is continuing to explore the intricacies of NAFLD.

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