Celiac disease is a malabsorption disorder caused by interactions between genetic and environmental factors. An environmental factor that precipitates the disease development is gluten or related proteins present in cereals like wheat, barley and rye. Immune intolerance causes a chronic inflammatory response in the mucosa of the small intestine with symptoms such as diarrhea, steatorrhea and weight loss.
It is one of the most common diseases in the Caucasian population, with a prevalence of between 1:100 and 1:500 in Europe and North America.
Susceptibility to gluten sensitivity is, in part, genetically determined. The strong predisposition is associated with HLA-DQ alleles, encoding the α and ß chains of two molecules of the Major Histocompatibility Complex (MHC) class II.
In most populations studied, 90-95% of patients carry the HLA-DQ2 heterodimer encoded by the alleles DQA1*05 and DQB1*02 in cis position (more common in central and northern Europe) or in trans position (more common in Mediterranean countries). The risk of an individual with the heterodimer DQA1*05:01-DQB1*02:01 to suffer the disease is 50 times greater than the average population risk.
The remaining patients (5-10%) usually carry a second heterodimer, HLADQ8 (majority among South American indigenous patients), encoded by the alleles DQA1*03:01 and DQB1*03:02. It is estimated that only 0.5% of celiac patients aren’t DQ2 or DQ8. Most of them have actually a half part of the DQ2 heterodimer (DQB1*02:01).
The prevalence of celiac disease has been underestimated. Early diagnosis is important to start as soon as possible with a gluten-free diet. The absence of treatment often causes other autoimmune disorders such as type 1 diabetes or rheumatoid arthritis.
GENVINSET® HLA CELIAC is a kit for the detection of alleles DQB1*02, DQB1*03:02 and DQA1*05 of HLA system and the consequent determination of DQ2 and DQ8 antigens associated with celiac disease. For the DQB1*02, it is able to determine the status of a sample as homozygous or heterozygous. Analysis based on Real Time PCR technology using TaqMan® probes.