Genetic risk for celiac disease (DQ2/DQ8)

Genetic Risk for Celiac Disease (Dq2/Dq8)

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Celiac disease is an autoimmune disorder that causes the body to react adversely to gluten, a protein found in wheat, barley, and rye. This reaction can lead to damage in the small intestine, interfering with the absorption of nutrients from food. Genetic risk for celiac disease is primarily determined by the presence of certain human leukocyte antigen (HLA) gene variants, specifically HLA-DQ2 and HLA-DQ8.

The Role of HLA-DQ2 and HLA-DQ8 in Celiac Disease

HLA-DQ2 and HLA-DQ8 are genes that encode for proteins responsible for presenting gluten peptides to the immune system. Individuals who carry these gene variants are more susceptible to developing an immune response against gluten, leading to the development of celiac disease.

Approximately 95% of individuals with celiac disease carry the HLA-DQ2 gene variant, while the remaining 5% carry the HLA-DQ8 gene variant. However, it's important to note that the presence of these gene variants does not necessarily mean an individual will develop celiac disease, as other genetic and environmental factors also play a role.

While the presence of HLA-DQ2 or HLA-DQ8 gene variants increases the risk of developing celiac disease, other factors, such as environmental triggers and additional genetic factors, also contribute to the development of the condition.

Role of Genetic Risk for Celiac Disease (Dq2/Dq8)

The Genetic Risk for Celiac Disease (Dq2/Dq8) test is used to assess an individual's genetic predisposition to developing celiac disease. Celiac disease is an autoimmune disorder that causes damage to the small intestine when gluten, a protein found in wheat, barley, and rye, is consumed. The test looks for specific genetic markers, namely the HLA-DQ2 and HLA-DQ8 genes, which are strongly associated with an increased risk of developing celiac disease.

Indications for Genetic Risk for Celiac Disease (Dq2/Dq8) Testing

The Genetic Risk for Celiac Disease (Dq2/Dq8) test may be recommended in the following situations:

• Individuals with a family history of celiac disease: Having a first-degree relative (parent, sibling, or child) with celiac disease increases the risk of developing the condition.
• Individuals with symptoms suggestive of celiac disease: Symptoms such as chronic diarrhea, abdominal pain, weight loss, fatigue, and nutrient deficiencies may prompt testing for celiac disease, including genetic risk assessment.
• Individuals with other autoimmune disorders: Celiac disease is associated with an increased risk of developing other autoimmune conditions, such as type 1 diabetes, autoimmune thyroid disorders, and rheumatoid arthritis.
• Screening in high-risk populations: Certain populations, such as those with Down syndrome or Turner syndrome, have a higher prevalence of celiac disease, making screening for genetic risk beneficial.

Preparation for the Procedure

Preparing for the genetic testing for celiac disease (Dq2/Dq8) is relatively straightforward and does not require extensive measures. However, there are a few recommendations to consider:

• No specific dietary restrictions are necessary for this genetic test.
• Avoid strenuous physical activity immediately before the test, as it can temporarily affect certain physiological parameters.
• Inform your healthcare provider about any medications or supplements you are taking, as some substances may potentially interfere with the testing process.
• Stay well-hydrated to facilitate the blood draw process.

The Procedure

The genetic testing for celiac disease (Dq2/Dq8) typically involves a simple blood draw. A healthcare professional will collect a small sample of blood, usually from a vein in your arm. The procedure is generally quick and minimally invasive.

About the Genetic Risk for Celiac Disease (DQ2/DQ8) Test

The Genetic Risk for Celiac Disease (DQ2/DQ8) test is a genetic analysis that checks for the presence of specific human leukocyte antigen (HLA) gene variants associated with an increased risk of developing celiac disease. This test is often part of a comprehensive evaluation for celiac disease, particularly when there are ambiguous or inconclusive results from other diagnostic tests.

The test looks for the presence of the DQ2 and DQ8 genes, which are known to be involved in the development of celiac disease. Individuals who carry these gene variants have a higher susceptibility to developing the condition when exposed to gluten, a protein found in wheat, barley, and rye.

It is important to note that having the DQ2 or DQ8 genes does not necessarily mean an individual will develop celiac disease. Environmental factors, such as gluten exposure and other triggers, also play a role in the development of the condition. However, the absence of these genes reduces the risk of developing celiac disease significantly.

Sources:

https://bethematch.org/transplant-basics/how-blood-stem-cell-transplants-work/hla-basics/
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5743871/
https://www.ncbi.nlm.nih.gov/books/NBK546662/
https://ashpublications.org/ashclinicalnews/news/7168/HLA-Typing-Origins-Innovations-and-Ongoing
https://health.ucdavis.edu/transplant/about/hla-typing-matching.html
https://www.verywellhealth.com/hla-typing-overview-4588231
https://www.mskcc.org/cancer-care/patient-education/human-leukocyte-antigen-typing
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2628004/
https://ythi.net/abbreviations/english/what-does-hla-mean-what-is-the-full-form-of-hla/

IMPORTANT!

It is crucial to remember that the information provided in this section is not intended for self-diagnosis or self-treatment. If you experience any symptoms or a flare-up of a condition, it is essential to consult a healthcare professional for proper diagnosis and treatment. Only a qualified specialist can provide an accurate diagnosis and determine the appropriate treatment plan. To obtain the most accurate and consistent evaluation of test results, it is recommended to have them performed at the same laboratory. This is because different laboratories may use different methods and units of measurement for similar tests.