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 CD 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.
CD symptoms range from mild to severe and can include fatigue, anemia, diarrhea, abdominal discomfort, weight loss, vomiting, and mouth ulcers. In children, CD 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.
Until recently, CD was thought to be uncommon in the United States. However, recent studies estimate that about 2 million people in the United States have CD, or about 1 in 133 people. Among people who have a first-degree relative diagnosed with CD, 1 in 22 people may have the disease. As many individuals with CD have no or mild symptoms, it is estimated that for every adult individual who is diagnosed with CD, there are eight cases that go undetected.
Several genetic variants have been found to contribute to the risk of developing CD; 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.
The deCODEme Genetic Scan identifies the variants listed above and provides information on the associated risk for the development of CD in individuals of European descent. At the present time data are not available for people of other ethnicities for these variants.
