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Genetics of complete celiac disease, Calderón

Test to detect the genetic predisposition to develop celiac disease. Celiac disease (CD) is one of the most frequent diseases in the Caucasian population, with a prevalence of between 1:100 and 1:500 in Europe and North America. Is a autoimmune disease and to its development contribute:
  • Genetic factors (HLA system, other candidate genes under study).
  • Environmental factors, such as gluten consumption.
  • immunological factors.
Many people with celiac disease don't know they have it. There are two types of tests that can help diagnose it: serological tests: It is a blood test in which high levels of certain antibodies are sought, revealing an immune reaction triggered after the consumption of gluten. These tests have a high positive predictive value, but a low negative predictive value. In other words, a negative result does not completely rule out the existence of celiac disease. This circumstance improves when the patient is on a gluten-containing diet and considerably worsens if he is on a gluten-free diet. For this reason, it is important to perform this type of test before starting a gluten-free diet. To rule out celiac disease can be used genetic testing capable of detecting haplotypes related to celiac disease. This is an analysis that can be performed on saliva or oral mucosa. The 95% of celiacs have the DQ2 or DQ8 risk haplotypes, the majority being DQ2 (90%-95%). Recently, after numerous family studies, a higher risk of developing CD has also been attributed to the DQ7 and DQ9 haplotypes. The 30% of the healthy population presents some of these haplotypes, therefore HLA-DQ genetic typing has an excellent negative predictive value. In other words, a negative result in this test practically rules out the existence of CD and even the possibility of developing it throughout life, but a positive result only informs us about the genetic predisposition to develop it at some point in life. .

Gluten is the general name given to a protein that is present in various types of cereals, from the most common such as wheat, barley, oats and rye to einkorn, triticale, spelled, farro and kamut. Among its functions is that of acting as a binding element in pastry and bakery doughs, contributing to the union of the rest of the ingredients and the water molecules they contain, and achieving a firm consistency.

What is celiac disease?

Celiac disease, also known as celiac disease or gluten-sensitive enteropathy, is an autoimmune disease developed in genetically predisposed people and in which one of the main triggers is the consumption of gluten. It is characterized by an inflammation of the mucosa of the small intestine.

This digestive and genetic disease causes lesions in the small intestine and causes the absorption of nutrients contained in food to be altered, in addition to conditioning an alteration in the permeability of the intestinal mucosa. All this can be the origin of the appearance of symptoms, both digestive and extra-digestive.

According to current estimates, celiac disease affects between 1 and 2 percent of the population throughout their lives. It affects both children and adults of all ages. The female/male ratio is 2/1.

There is an alteration that occurs with a pathological response to the consumption of gluten in which the analytical patterns of celiac disease are not manifested. In other words, the results of the intestinal biopsy are not compatible with those of celiac disease and both the tests to assess the genetic and serological markers provide negative results. This alteration is called non-celiac gluten sensitivity and it is very likely that it is the consequence of a hypersensitivity process, either type I, III or IV, against gluten.

Genetic implication in celiac disease.
More than 90% of celiac patients present the HLA DQ2 protein heterodimer, either encoded by the HLA DQA1*05 and DQB1*02 alleles in the cis position (haplotype DQ2.5), more common in central and northern Europe, or in trans position (combination of haplotypes DQ7.5 [alleles DQA1*05 and DQB1*03:01] and DQ2.2 [alleles DQA1*02 and DQB1*02]), more frequent in the Mediterranean basin. The remainder show the second risk heterodimer, HLA DQ8 (encoded by the DQA1*03 and DQB1*0302 alleles), or carry one of the separate HLA DQ2 alleles, DQB1*02 (as part of the DQ2 molecule. 2) or DQA1*05 (in the DQ7.5 molecule). On the other hand, there are some publications that attribute risk of celiac disease (CD) to the HLA DQ9 heterodimer, specifically DQ9.3 (DQA1*03 and DQB1*0303 alleles), but its relationship with the disease has not yet been well established. . HLA genetic testing can be performed using different approaches as described below. In addition to knowing the risk haplotypes that the patient may have, it is interesting to know the genetic load (1 or 2 copies) of DQB1*02 (DQ2) and DQB1*0302 (DQ8). The interpretation of the results of the genetic study in an individual allows establishing several risk groups based on the alleles that it possesses. The greatest risk is attributed to carriers of the DQ2 heterodimer with two copies of the DQB1*02 allele, such as DQ2.5/DQ2.5 homozygotes and DQ2.5/DQ2.2 heterozygotes; reducing the risk in carriers of a single copy of the DQB1*02 allele and in HLA DQ8 homozygotes (DQ8/DQ8). The isolated presence of the DQA1*05 allele does not rule out CD, although it can be excluded in those genotypes without any risk allele. The 30% of the healthy population presents some of these haplotypes, therefore HLA-DQ genetic typing should be used to support the diagnosis of CD, and has a high negative predictive value, allowing the exclusion of the disease with a certainty 99% .

What does this test consist of (Complete typing HLA-DQA1/DQB1.)?
Detection of all types of DQ, those related to EC (DQ2.5, DQ2.2, DQ7.5, DQ8) and those not currently related (for example DQ5, DQ6, etc). By studying all the possible haplotypes encoded by the DQA1 and DQB1 genes, this test is able to identify the genetic load of all the DQs involved in CD.

For which people is this study indicated?
Traditionally, the diagnosis of CD was based on an intestinal biopsy when positive IgA anti-transglutaminase antibodies were detected. At the ESPGHAN (European Society for Pediatric Gastroenterology, Hepatology and Nutrition) meeting convened in 2012, a new diagnostic scheme was proposed that includes HLA typing as the first option in asymptomatic patients but at risk of developing the disease. In children/adolescents with symptoms and positive anti-transglutaminase IgA antibodies with a high value, HLA typing is proposed and if it is positive, CD is confirmed without the need for biopsy.

It would be justified or interesting to carry out a genetic test on people who meet any of the following requirements:

  • In patients with uncertain diagnosis of CD.
  • In asymptomatic people but belonging to risk groups: first-degree relatives of a celiac; affected by type I diabetes, autoimmune thyroiditis, Down syndrome, Turner syndrome, Williams syndrome, isolated IgA deficiency, autoimmune hepatitis, dermatitis herpetiformis, cerebellar ataxia, psoriasis, vitiligo and alopecia areata, dental enamel hypoplasia, inflammatory bowel disease , Fjögren's disease, all of them due to the important association between these pathologies and CD.
  • In children, if CD can be diagnosed without the need to resort to a biopsy.
  • On couples with idiopathic infertility problems or recurrent abortions.
  • To exclude EC in patients with gluten sensitivity (when the patient is negative for risk HLA, CD is excluded). Gluten sensitivity is a pathology recently considered whose symptoms overlap with CD but those affected have negative antibodies and biopsy. It is believed to be a non-autoimmune reaction of the body to gluten, different from the one that occurs in CD.

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Product Information

Laboratory

Calderón Diagnostic Center

Test mode

home kit

Type of sample

Saliva "rub a minimum of 20 times on the inside of the cheek while performing rotational movements."

Results delivery time

15 business days

Collection of results

The Laboratory sends the results by e-mail to the patient.

Shipping costs

They are included in the final price of the kit, except when the samples come from the Canary Islands, Ceuta or Melilla; In this case, a supplement of €15 (VAT incl.) will be paid.

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