The HSD17B13 gene helps liver cells handle fats and certain hormone-like substances stored in tiny fat droplets. Some variants reduce how well this protein works, and unlike many gene changes, this can lower the chance of fatty liver disease, liver inflammation, and liver scarring. Understanding this gene can help clarify why some people have more natural protection against long-term liver damage.
What is a gene?
A gene is a stretch of DNA that carries instructions your cells use to make molecules or regulate processes in the body. Some genes provide the instructions for making proteins, which are the working parts of cells. Other genes mainly help direct when certain processes happen, where they happen, and how strongly they run. Together, genes influence how the body develops and functions, and they can shape how you respond to food, stress, or medications. To explore this topic in greater depth, you can find more in the LearnHub.
Overview
HSD17B13Gene function
What if the gene works
Your liver cells use the HSD17B13 gene to help manage fats stored in tiny droplets. It also supports processing of retinol, a form of vitamin A, during routine liver metabolism.
Risk
What if the gene does not work
Variants in the HSD17B13 gene range from milder changes to stronger loss of function. Lower HSD17B13 activity is linked to a lower chance of liver inflammation, scarring, cirrhosis, liver cancer, and alcohol-related liver injury.
Treatment
What does that mean for your treatment
No HSD17B13-specific treatment or drug choice is currently established in clinical guidelines. The HSD17B13 gene is being studied as a drug target because loss-of-function variants are linked to lower risk of some liver conditions, but this has not changed routine care.
Gene function
What if the gene works
Your liver cells constantly sort, store, and process fats. In that daily work, the HSD17B13 gene supports chemical steps on tiny fat storage droplets inside the cell. Its activity is part of normal liver cell housekeeping and helps these cells handle common fat related molecules.
The HSD17B13 gene is most active in liver cells, where routine fat handling happens all day. Its protein stays near lipid droplets, the small packages that store fat inside the cell.
Inside liver cells, this gene helps carry out chemical work on lipid droplets rather than in the cell's main fluid. This reflects the HSD17B13 gene's normal function in the liver, where stored fats are organized and handled in a controlled way.
The protein made from the HSD17B13 gene acts as an enzyme, meaning it helps certain chemical reactions happen in a controlled way. It can process some vitamin A related and fat related molecules as part of everyday liver cell activity.
What is a variant?
Genetic variants are minor differences in a gene’s DNA sequence. They are a normal part of being human and help explain differences such as appearance, metabolism, and the way the body reacts to environmental factors. Many do not lead to any noticeable changes and are simply part of natural genetic diversity. Sometimes, though, a variant changes how a gene works to a greater degree and can contribute to or cause a genetic condition.
Genetic variants
What if the gene does not work
Variants in the HSD17B13 gene can change the protein’s shape, stability, or placement inside liver cells, especially on lipid droplets. Some milder variants only partly reduce enzyme activity, while more severe variants can shorten the protein or stop it from being made at all. In well-studied examples of how HSD17B13 variants affect liver disease risk, stronger loss of function is often linked to less liver inflammation and scarring than variants with smaller functional effects.
How variants are linked to conditions
Variants in the HSD17B13 gene are most strongly linked to liver conditions. In large studies, some common HSD17B13 changes, especially rs72613567:TA, have been associated with a lower risk of nonalcoholic fatty liver disease, alcohol-related liver disease, cirrhosis, and sometimes liver cancer in people with long-term liver disease. This means HSD17B13 gene variants and liver disease risk are connected at a population level, but a common variant does not decide your future on its own.
A variant is not necessarily a diagnosis
Gene variants are a normal feature of human biology and are common throughout the general population. Most variants do not have a direct effect on health and simply reflect natural human diversity. For many genes, carrying a variant linked to a condition indicates a possible association rather than a definitive diagnosis, especially when more than one gene and environmental factors play a role. In some situations, though, a single well-characterized variant in a specific gene is enough to confirm a diagnosis.
Are there things that can increase or change my risk?
For HSD17B13, risk is mainly discussed in relation to liver disease. Heavy alcohol use, obesity, fatty liver, and type 2 diabetes can raise liver risk, while some HSD17B13 changes appear to lower the chance of liver inflammation or scarring. These effects can also vary with other genes and a person’s overall health.
Inheritance of HSD17B13 variants
There is not yet a broadly confirmed Mendelian pattern for HSD17B13-related health effects, because most well-known HSD17B13 gene variants are studied as risk or protective factors for liver disease rather than as a single inherited condition with a set dominant or recessive pattern. In practical terms, HSD17B13 gene inheritance still follows the usual rule for genes on the nonsex chromosomes: you inherit one copy from your mother and one copy from your father. The HSD17B13 gene is located on chromosome 4, an autosome, so inheritance does not differ between sons and daughters.
What does my HSD17B13 result mean for my family?
There is not a broadly confirmed single-gene inheritance pattern for HSD17B13 tied to a specific inherited condition. Changes in this gene are mostly discussed as influencing liver disease risk rather than causing a clear-cut inherited condition on their own, so what a result means for relatives depends on the full genetic and medical picture.
Genetic information
Genetic testing
How you find out about variants
HSD17B13 genetic testing looks for variants in a blood or saliva sample by reading the DNA sequence of the HSD17B13 gene. It is usually done as part of a broader liver genetics panel or more extensive sequencing, and the report may show whether you carry a variant linked with altered liver disease risk.
When should I consider getting a genetic test?
There isn't yet a broadly established, HSD17B13-specific clinical reason for testing. If you have liver disease or a strong family history of it, genetic testing decisions are usually based on the bigger picture and are best made with a doctor or genetic counselor.
A genetic result is only one part of your health story
A genetic result can be informative, but how much it explains varies with the condition and the kind of variant found. Over time, many factors, including lifestyle, environment, age, and medical history, affect how the body functions. In some conditions, particularly those shaped by many genes, genetic information provides context rather than certainty and is most useful when considered with other parts of care. In other situations, a genetic result can offer a clear answer. In areas like medication response, genetic findings can help make sense of individual experiences.
Pharmacogenetics
How variants shape your response to medicine
Genetic variation can affect how people respond to medicines. This helps explain why the same treatment works well for one person but less well for another, or why some people are more sensitive to side effects. Small differences in genes can change how the body breaks down, moves, or responds to a drug. These differences are common and are one reason medication response can vary from person to person.
What is Pharmacogenetics?
Pharmacogenetics examines how genetic differences can shape a person’s response to medications. It looks at gene and drug patterns to help explain why the same treatment may work differently from one person to another. For many medicines, genes can affect both how strongly a drug works and how the body handles it. This information can support more informed, more individualized treatment decisions. More details on this topic are available in the LearnHub.
Drugs influenced by the HSD17B13 gene
When should I seek medical advice?
There is not yet a broadly confirmed role for this gene in guiding medication choices. If you have concerns about medicines, side effects, or liver health, discuss them with your doctor, especially before starting a new treatment or if problems appear after a change in medication.