Woman with celiac disease lying down and holding stomach in pain

Is celiac disease genetic?

Medically reviewed on August 1, 2022 by Amy Harris, MS, RN, CNM. To give you technically accurate, evidence-based information, content published on the Everlywell blog is reviewed by credentialed professionals with expertise in medical and bioscience fields.


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Celiac disease is a serious autoimmune disease that, if left unchecked, can cause lasting damage to your small intestine and overall health. Having celiac disease can also increase your risk for further serious health problems, including cardiovascular disease and certain cancers. [1]

Celiac disease is also quite prevalent with estimates indicating that it may impact nearly one percent of the world’s population. [2] The severity and prevalence mean that it’s very important to get tested for celiac disease if you meet certain conditions. One such condition is that you have a family member with celiac disease.

So is celiac disease genetic? Yes. Celiac disease is hereditary and celiac disease genetic testing exists to screen for certain genetic variations that indicate that you too may be more likely to develop the disease.

What causes celiac disease?

Celiac disease occurs when your immune system falsely believes that the proteins found in gluten are invaders. If you have the celiac disease gene, an immune response is triggered when you eat foods that contain gluten, such as:

  • Wheat
  • Barley
  • Rye
  • Malt products
  • Brewer’s yeast
  • Oats (for some individuals)

When the response is triggered, your immune system attacks your small intestine. This can lead to a host of symptoms and, over time, severe damage to your small intestine. The only known cause of celiac disease is having a genetic variation that can lead to the onset of the disease at some point in your lifetime.

How is genetic testing used to diagnose celiac disease?

So, how is celiac disease diagnosed? Genetic testing can be one tool used to confirm a celiac disease diagnosis. [3] It involves taking a DNA sample through blood or a cheek swab. However, you’ll have to know how to prepare for a celiac blood test to ensure accuracy. The DNA test will then identify certain genetic variations that those who have celiac disease carry.

These genetic variants are called the DQ2 and DQ8 genes.

If you do have these genetic variants, you’ll need to undergo further testing to confirm that you have celiac disease. The only way to get a certain diagnosis is through an endoscopy. In an endoscopy, a small camera scans your small intestine for damage. Samples of the tissue in your intestine are also taken for further analysis. The combination of results from genetic testing and an endoscopy can lead to a confirmed celiac disease diagnosis.

Does having the DQ2 and DQ8 variants mean you’ll develop celiac disease?

No. Everyone who has the DQ2 and/or DQ8 variant doesn’t develop celiac disease. Some people have these gene variants and never experience symptoms or other problems associated with the disease. However, nearly everyone who does have celiac disease also has the DQ2 and DQ8 genetic variations.

What are some signs you may have celiac disease?

Celiac disease has many different symptoms. The symptoms you experience may vary, depending on the type of celiac disease you have. The three types of celiac disease include: [4]

  • Classical celiac disease – In classic celiac disease, you may show signs of nutrient malabsorption. This might present with diarrhea and pale stool. Children suffering from classical celiac disease might not grow properly. They might also experience sudden weight loss.
  • Non-classical celiac disease – The widest range of symptoms appears in non-classical celiac disease. These can include abdominal pain and distention. Some individuals may have iron or vitamin deficiencies, fatigue, migraines, frequent bone fractures, and unexplained difficulty losing weight. Some people also have pain or tingling in their hands and feet, while others develop a painful, itchy rash. Still, others suffer from unexplained depression and anxiety.
  • Silent celiac disease – Some people may have asymptomatic celiac disease. These individuals don’t experience the painful or uncomfortable symptoms associated with the disease. However, they may still have damage to their small intestine. Interestingly, a gluten-free diet has been found to improve the overall quality of life of asymptomatic celiac disease sufferers.

If you’re genetically predisposed to celiac disease and are experiencing symptoms, you should begin working with a healthcare professional right away to get a better handle on your health and prevent further potential intestinal damage.

Discover if you have an increased risk of celiac disease with Everlywell

Is celiac disease genetic? Yes, celiac disease is an autoimmune disorder that is thought to impact nearly one percent of the population worldwide. It’s tricky to diagnose, but screening for certain genetic variations is often the first step to getting answers. Without proper testing, diagnosis, and lifestyle changes, celiac disease can lead to even more serious and sometimes deadly health conditions.

This is why it’s so important to know your risk levels. If you have a family member who has been diagnosed with celiac disease, you should be tested. The first step is often to screen for certain antibodies that are markers of celiac disease. The Everlywell Celiac Disease Screening Test can show you if you are at increased risk. If you do have a genetic predisposition to celiac disease, we can help guide you in the right direction to the next steps for safely managing your health.

How to prepare for celiac blood test

How is celiac disease diagnosed?

Gluten intolerance vs. celiac disease: understanding the difference

How to test for celiac disease


References

  1. What is Celiac Disease? Celiac Disease Foundation. URL. Accessed August 1, 2022.
  2. Celiac Disease. NIH. URL. Accessed August 1, 2022.
  3. Celiac Disease Diagnosis. NIH. URL. Accessed August 1, 2022.
  4. Symptoms of Celiac Disease. Celiac Disease Foundation. URL. Accessed August 1, 2022.
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