Celiac disease, genetic

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Coeliac disease, also known as gluten intolerance or sprue, is a chronic disease of the small intestine in which the immune system reacts to the gluten found in grains.
In people with coeliac disease, eating foods containing gluten causes inflammation of the lining of the small intestine, which can lead to digestive problems and impaired absorption of nutrients.
Symptoms of coeliac disease can vary from person to person, but can include abdominal pain, diarrhoea, bloating, weight loss, fatigue and skin rashes. If not treated, coeliac disease can lead to long-term complications such as osteoporosis, anaemia, infertility and an increased risk of certain cancers.

Coeliac disease is caused by genetic predisposition, i.e. the presence of certain genetic variants means a higher risk of developing the disease. Ultimately, however, it is certain external factors that determine the onset of the disease.
In coeliac disease, HLA-DQ2 and HLA-DQ8 are the two haplotypes associated with an increased predisposition to the disease. Almost all coeliac patients (99%) are carriers of one of these two haplotypes.
90-95% of coeliac patients are carriers of the risk haplotype HLA-DQ2 (DQA1*05:01 and DQB1*02:01), and their risk of disease is 50 times higher than that of the average population.
The remaining 5-10% usually have the DQ8 haplotype (DQA1*03:01 and DQB1*03:02) or have only the DQB1 allele DQB1*02 of the DQ2 haplotype (= half-DQ2).