Understanding HLA-DQ2 and DQ8: The Genetic Markers of Celiac Disease

Celiac disease is an autoimmune disorder triggered by the ingestion of gluten, a protein found in wheat, barley, and rye. While environmental factors contribute to its onset, genetics play a pivotal role in determining susceptibility. Two specific genetic markers, HLA-DQ2 and HLA-DQ8, are closely associated with celiac disease.

The Role of HLA Genes in Celiac Disease

Human Leukocyte Antigen (HLA) genes are part of the immune system’s mechanism for distinguishing between the body’s own proteins and those from pathogens. HLA-DQ2 and HLA-DQ8 are specific variants of these genes that have been identified as significant risk factors for celiac disease.

• HLA-DQ2: Approximately 90-95% of individuals with celiac disease possess this gene variant.

• HLA-DQ8: Found in most of the remaining celiac patients who do not carry HLA-DQ2. celiacmagazine.com

It’s important to note that while these genes increase the risk, their presence alone does not confirm the disease.

Risk Assessment Based on HLA Genotypes

The presence and combination of HLA-DQ2 and DQ8 genes influence the likelihood of developing celiac disease:

• Homozygosity: Individuals with two copies of HLA-DQ2 have a higher risk compared to those with a single copy. ucmals.com

• Combination of DQ2 and DQ8: Carrying both genes further elevates the risk.

However, it’s crucial to understand that these genetic markers are necessary but not sufficient for the development of celiac disease.

The Importance of Genetic Testing

Genetic testing for HLA-DQ2 and DQ8 can provide valuable insights:

• Exclusion of Celiac Disease: Absence of both genes makes celiac disease highly unlikely. celiac.org

• Risk Stratification: Identifying the presence of these genes helps in assessing the risk, especially in individuals with a family history of celiac disease.

• Guiding Further Testing: Positive genetic results can prompt additional diagnostic procedures, such as serological tests and intestinal biopsies.

For individuals already on a gluten-free diet, genetic testing is particularly useful, as traditional serological tests may yield false negatives in the absence of gluten consumption.

Introducing the GlutenID® Celiac Genetic Home Test

Targeted Genomics offers the GlutenID® Celiac Genetic Home Test, a non-invasive, saliva-based test that analyzes the HLA-DQA1 and HLA-DQB1 genes to detect the presence of HLA-DQ2 and DQ8 haplotypes. This test provides a clear assessment of genetic risk for celiac disease.

Key Features:

• Convenience: Collect your saliva sample at home without the need for blood draws or clinical visits.

• Comprehensive Analysis: Detailed report indicating the presence or absence of HLA-DQ2 and DQ8 genes.

• Actionable Insights: Understand your genetic predisposition and take proactive steps in consultation with healthcare professionals.

Order your GlutenID® test kit today and take the first step towards informed health decisions.