The Role of Genetics in Celiac Disease

Celiac disease is a chronic autoimmune disorder that affects the small intestine and causes damage to the lining of the gut in response to the consumption of gluten. While it is a well-known fact that celiac disease has a strong genetic component, the exact mechanisms by which it is passed on from one generation to the next are not fully understood.

Here we have gathered some important information that will help explore the role of genetics in celiac disease and the risk of passing it on to family members.

What is Celiac Disease?

Celiac disease is a chronic autoimmune disorder that affects the small intestine and causes damage to the lining of the gut in response to the consumption of gluten. Gluten is a protein found in wheat, barley, and rye and is the main trigger for the immune system in people with celiac disease.

As a result of the immune system attacking the gut, individuals with celiac disease experience a range of symptoms, including abdominal pain, bloating, diarrhea, constipation, and weight loss.

The Genetics of Celiac Disease

Celiac disease is a complex genetic disorder that is influenced by several different genes. The human leukocyte antigen (HLA) region on chromosome 6 is the leading genetic factor associated with celiac disease. However, other genes, such as the IL2 and IL21 genes, have also been identified as playing a role in the development of celiac disease according to various celiac disease tests.

Moreover, the HLA genes are responsible for producing proteins that help regulate the immune system. People with celiac disease have specific variants of these genes that cause the immune system to overreact to gluten, leading to damage to the gut.

Risk of Passing Celiac Disease to Family Members

The risk of passing the celiac disease on to family members is determined by several factors, including the presence of the HLA variants, the number of family members with celiac disease, and the close relationship between the affected individuals.

Furthermore, first-degree relatives of individuals with celiac diseases, such as parents, siblings, and children, have a higher risk of developing celiac disease symptoms than the general population. The risk is estimated to be between 10% and 15% for first-degree relatives, compared to about 1% for the general population.

In addition to that, second-degree relatives, such as grandparents, aunts, uncles, and cousins, also have a slightly increased risk of developing celiac disease. However, the risk is lower than for first-degree relatives and is estimated to be between 3% and 5%.

Diagnosis and Testing

If you have a family history of celiac disease, it is essential to speak to your doctor about getting tested. A blood test can be performed to check for specific antibodies that are indicative of celiac disease. If the blood test results are positive, a small intestine biopsy may be performed to confirm the diagnosis before starting celiac disease treatment.

Conclusion:

Celiac disease is a complex genetic disorder that is influenced by several different genes. The human leukocyte antigen (HLA) region is the main genetic factor associated with celiac disease. People with celiac disease have specific variants of these genes that cause the immune system to overreact to gluten.

Notably, first-degree relatives of individuals with celiac disease have a higher risk of developing celiac disease, and it is estimated to be between 10% and 15%. If you have a family history of celiac disease, it is important to speak to your doctor about getting tested.