Celiac Disease is a chronic autoimmune condition affecting about 1 in 100 people globally, yet only 30% are properly diagnosed. It occurs in genetically predisposed individuals and is triggered by consuming gluten—a protein in wheat, barley, and rye. Gluten exposure causes the immune system to attack the small intestine’s villi, impairing nutrient absorption and leading to various health complications.

Celiac Disease runs in families, with first-degree relatives carrying a 10% risk. Left untreated, it can lead to severe complications such as osteoporosis, infertility, epilepsy, heart disease, and a higher risk of bowel cancer. However, early diagnosis significantly reduces these risks.

Diagnosis typically involves blood antibody tests, biopsies, and genetic testing. Advanced molecular tools like Bosphore Celiac HLA DQ2/DQ8 Detection Kit v1 enable precise identification of genetic susceptibility through blood or buccal swab samples.

While genetic tests can’t confirm the disease alone, they can rule it out when susceptibility alleles are absent.

Currently, the only effective treatment is a lifelong gluten-free diet, which helps heal intestinal damage and improve symptoms. Raising awareness about early detection and strict dietary management is key to preventing long-term complications and enhancing the quality of life for those with Celiac Disease.

 Internal control based on the detection of the endogenous nucleic acid sequence of the GAPDH gene present in the human genome has been integrated into the kit to demonstrate the proper functioning of the PCR reaction in cases where these alleles are not present, and to check for sampling, extraction procedure, PCR inhibition, or application problems. The amplification data of the internal control is detected using the Cy5 filters.  

Certain variants of the HLA-DQA1 and HLA-DQB1 genes provide the main susceptibility molecules for Celiac disease. These molecules include HLA-DQ2.2, HLA-DQ2.5, and HLA-DQ8, which are collectively present in almost all (99%) patients with Celiac disease. Bosphore Celiac HLA DQ2/DQ8 Detection Kit v1 detects the following alleles:  

• HLA-DQA1*02 and HLA-DQB1*02, which encode the HLA-DQ2.2 molecule,  

• HLA-DQA1*05 and HLA-DQB1*02, which encode the HLA-DQ2.5 molecule, and  

• HLA-DQA1*03 and HLA-DQB1*03:02, which encode the HLA-DQ8 molecule.  

 

Although these molecules, especially HLA-DQ2.5, confer a substantial relative risk for Celiac disease, the absolute risk remains low, as most individuals carrying one or more of these genes may not develop Celiac disease. On the other hand, the absence of these specific allele combinations effectively rules out the disease. Bosphore Celiac HLA DQ2/DQ8 Detection Kit v1 is sufficient to exclude Celiac disease in such cases.  

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