Polygenic score
Influential genes: TSBP1,HLA-DQB1,HLA-DPB1
Variants in HLA-DQB1 gene has been found to increase the risk of Celiac disease.
TSBP1 gene has been also associated with celiac disease in an independent Dutch cohort representing European ancestry.
The HLA-DPB1 gene variant is associated with celiac disease in a protective way.
Celiac disease is an immune-mediated systemic disorder characterized by an intestinal hypersensitivity to gluten and, more precisely, gliadin. Gliadin belongs to the group of gluten peptides found in wheat, rye, and barley. When gliadin comes into contact with the intestinal mucosal lining, it triggers an immune response that, over time, leads to atrophy of the villi of the small intestine. Villi are threadlike projections from the surface of our intestine that serve to increase its surface area. The small intestine is responsible for absorbing nutrients such as vitamins and minerals through the villi. When they become atrophied, it reduces the surface area for absorption of the nutrients, which leads to malabsorption.
Celiac Disease is more common in people of Northern European ancestry. It is estimated that it affects 1 in 150 people in Europe and around 1 in 250 in Japan and USA. Females are twice more affected as males. People with other autoimmune disorders and/or chromosomal abnormalities such as Down syndrome, Hashimoto’s thyroiditis, and type 1 Diabetes Mellitus are at higher risk of developing Celiac Disease.
Celiac Disease is an autoimmune disease whose genetic background is well-described. HLA-DQ2 and HLA-DQ8 (Human leukocyte antigen) variants represent the main genetic determinant of the disease development. Even though genetics play a significant role, the contribution of environmental factors is also crucial. Its prevalence in the general population is estimated to account for about 1%. The frequency of aforementioned variations is notably higher in Northern and Western Europe, explaining the higher incidence of Celiac Disease in these regions.
Recurrences in families account for about 10–15% of cases and demonstrates that the disease has a strong hereditary component. This is also evidenced by the high incidence among monozygotic twins (75-80%), compared to only about 11% in dizygotic twins.[1,2]
Genetic testing allows us to detect whether you have the predisposition to develop this disease. In Macromo, we use polygenic risk scores and causative evidence-based genetic variants for evaluation. The polygenic risk score (PRS) represents the total number of genetic variants that increase an individual's risk of developing a particular disease. All variants across their genome are summed and ranked according to their effect on disease development.
Symptoms of Celiac Disease can vary significantly. In children, it usually causes failure to thrive, muscle weakness, abdominal distension, and lack of appetite. Diarrhea and soft, clay-colored stools are also common.
However, in adults, weakness and lack of appetite are usually the motivating symptoms to visit a doctor. Mild and episodic diarrhea and steatorrhea (foul-smelling, fatty diarrhea) can also occur.
Manifestations outside of the intestines include:
A specific skin manifestation affecting 10% of the patients with Celiac Disease is Dermatitis Herpetiformis, an itchy rash distributed over the area of the elbows, knees, shoulders, and buttocks.
Celiac disease is often accompanied by malabsorption of vitamins and minerals, primarily vitamin D and calcium. Therefore it often leads to bone disorders, such as osteoporosis and osteomalacia.
Celiac Disease is considered one of the most commonly underdiagnosed diseases due to its wide variety of presentations.
The diagnosis is performed by medical professionals utilizing the following procedures.
A crucial therapeutic measurement in Celiac Disease is prevention by following a stringent, lifelong gluten-free diet. As a result, you need to abstain from the following foods:
Foods that are safe to eat include but are not limited to:
On the other hand, oats can contain avenin, a protein similar to gliadin and gluten, that can also trigger a sensitive response in some people. It is essential to consult a doctor before adding oats to your food regimen.
If left untreated, Celiac Disease can lead to infertility and increase the risk of developing gastrointestinal cancer.
Get the guidelines for a healthier and longer life. With Macromo tests, you'll learn your health risks and how to prevent them.
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