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The strongest known risk factor for celiac disease is genetics.

It is recommended that individuals with a family history of celiac disease be tested.

A gluten-free diet is currently the only accepted therapy for celiac disease and is highly effective in most individuals.

Although Celiac Disease is relatively common, most people who have the disease are not aware of it – Knowing your genetic risk for Celiac Disease is knowing more about your overall risk

Celiac disease is caused by an abnormal immune reaction

Celiac disease (CD) (also known as coeliac disease, celiac sprue, nontropical sprue, and gluten sensitive enteropathy) is caused by an abnormal immune response to wheat gluten and similar proteins in barley and rye. Some people with Celiac Disease may also have a reaction to oats. The immune reaction results in injury to the tissues lining of the inside of the small intestine that can interfere with the ability to absorb nutrients from food.

Symptoms vary between individuals

Celiac Disease symptoms range from mild to severe and can include fatigue, anemia, diarrhea, abdominal discomfort, weight loss, vomiting, and mouth ulcers. In children, Celiac Disease can stunt growth and have a significant impact on overall development. If left untreated, the disease can lead to other serious conditions, such as osteoporosis (thinning of the bones), infertility, and certain types of cancer.

Celiac Disease can be difficult to diagnose

Until recently, Celiac Disease was thought to be uncommon in the United States. However, recent studies estimate that about 2 million people in the United States have Celiac Disease, or about 1 in 133 people. Among people who have a first-degree relative diagnosed with Celiac Disease, 1 in 22 people may have the disease. As many individuals with Celiac Disease have no or mild symptoms, it is estimated that for every adult individual who is diagnosed with Celiac Disease, there are eight cases that go undetected.

The strongest known Celiac Disease risk factor is genetics

Established risk factors for Celiac Disease are:

• Genetics: The strongest known risk factor for Celiac Disease is genetics. Studies of identical twins (who share 100% of their genome) have shown that if one twin has Celiac Disease, the likelihood that the other twin also has the disease is 70-75%. For non-identical twins (who share 50% of their genome) the likelihood that both will have Celiac Disease is about 10%. Among genes that appear to increase the risk of developing Celiac Disease are HLA-DQA1 and IL2/IL21.
• Other risk factors: In some cases, Celiac Disease develops following surgery, pregnancy, childbirth, viral infection, or severe emotional stress.

Several genetic variants are associated with Celiac Disease

Several genetic variants have been found to contribute to the risk of developing Celiac Disease; most importantly a variant in the HLA-DQA1 region on chromosome 6. The other variants are in or close to the following genes: RGS1 on chromosome 1, IL1RL1 / IL18R1 / IL18RAP / SLC9A4 on chromosome 2, CCR1 / CCR3, IL12A / SCHIP1 and LPP on chromosome 3, IL2 / IL21 on chromosome 4, TAGAP on chromosome 6 and SH2B3 / ATXN2 on chromosome 12.

deCODEme can calculate your genetic risk for Celiac Disease

The deCODEme Complete Scan identifies the variants listed above and uses them to provide customers of European descent with a personalized interpretation of their genetic risk for developing Celiac Disease.

At present, the necessary scientific information to interpret the genetic risk for individuals of other ethnicities is not available. This information will be added as soon as it becomes available and we are assured of its quality.

Prevention and treatment

Blood tests are available to aid in the diagnosis of Celiac Disease. It is recommended that individuals with a family history of Celiac Disease or who are experiencing digestive symptoms, including chronic diarrhea, weight loss despite normal eating levels, or abdominal distention, be tested for Celiac Disease. Breastfeeding in infancy and delayed introduction (after 3-6 months of age) of gluten in the diet may protect against the development of Celiac Disease in at-risk individuals.

A gluten-free diet is currently the only accepted therapy for Celiac Disease. It carries few risks and in most individuals it is highly effective.

More information about Celiac Disease

You can find out more information about Celiac Disease by talking to your doctor or other healthcare provider and visiting these Web sites:

• American Dietetic Association on living with Celiac Disease
• Celiac Disease Foundation
• Health encyclopedia – NHS Direct on Celiac Disease
• National Digestive Diseases Information Clearinghouse
• National Foundation for Celiac Awareness

This content was last reviewed on February 08, 2010.

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