The Science - Celiac Disease Facts

Learn the science, history, and facts before starting your Gluten ID journey.


Making Genetics Readable

The Gluten ID Wheel was designed by Targeted Genomics to make celiac genetic health risk accessible to individuals, families, and physicians with a one time test. Using a simple cheek swab, the Gluten ID i) inheritance and ii) spectrum of risk are identified and reported in an understandable format.

An estimated 30% of the general population carries HLA celiac genetic risk haplotypes detected by the Gluten ID test. Studies estimate only about 3% of people with DQ2(cis), DQ2(trans), or DQ8 haplotypes will develop celiac disease. Of the people who develop celiac disease, over 90% have one or more copies of the DQ2(cis), DQ8 haplotypes or DQ2(trans). People without any of the tested variants are unlikely to develop celiac disease due to the high negative predictive value (NPV) of non-celiac genetic (NCG) results.

Megiorni F, et al. (2009) "HLA-DQ and risk gradient for celiac disease." Human Immunl 70:55-59.

Other factors influencing Celiac Disease Risk

Dietary Gluten

In genetically susceptible individuals, exposure to gluten proteins can trigger an abnormal immune response affecting the GI tract and other body systems.
Biopsy findings of prolonged damage to the small intestine is the gold standard for diagnosis of celiac disease. The damage can be reversed with a gluten free diet.
Most individuals with celiac risk genetics never develop celiac disease.

Family History

First degree relatives (parents, siblings, children) of individuals with celiac disease have approximately 5%-20% risk (compared to 1% for the general population) of developing celiac disease. The shared increase in risk may be attributed to genetic inheritance, shared lifestyle, and other factors.

Other Conditions

Individuals with other autoimmune conditions such as Hashimotos thyroiditis, Sjorgrens syndrome, and Type I Diabetes have slightly increased risk compared to the general population (approximately 5% versus 1%) for development of celiac disease. The prevalence of celiac disease is also higher in the presence of certain congenital disorders including Downs and Williams Syndrome.

Other Genes

Although alterations in genes other than HLA-DQA1 and HLA-DQB1 have been investigated in celiac disease research, none have sufficient level of evidence to be used clinically for celiac genetic risk assessment.


Celiac History

Celiac disease is believed to have developed over 8,000 years ago when hunter/gatherers began encountering new types of food (including wheat) during the neolithic period agricultural revolution. However it wasn’t until the first century AD that a Greek physician named Aretaeus of Cappadocia identified the symptoms as a disease of the “koelia” or abdomen in Greek. Before the true trigger for celiac disease was identified many treatments and diets were tried, including strict rice, mussel, and even banana diets. It wasn’t until the 1970s-1990s that celiac disease was recognized as an autoimmune disease and genes were pinpointed.

Aretaeus of Cappadocia

First Century AD Greek physician who identified celiac disease.

Woman has celiac disease genes and damage.
Philosopher Blaise Pascal is believed by some to have suffered from celiac disease.
Dr. Samuel Gee writes the first modern medical description of celiac disease and hypothesizes it can be treated through diet.
Dr. Willem Dicke theorizes that wheat is triggering celiac disease and develops a wheat-free diet to treat celiac disease patients.
Dr. Margot Shiner performs the first oral biopsy on a child with celiac disease.
First potential drugs for celiac disease begin the clinical trial process.
First Century AD
Aretaeus of Cappadocia writes the first medical description of celiac disease.
Matthew Baillie describes a diarrheal disorder that improves on a rice-based diet.
Dr. Sindey Haas treats children with celiac disease with his banana diet.
Medical team publishes their findings about wheat, rye, flour, and celiac disease.
Celiac disease is recognized as an autoimmune disease, and genes are pinpointed.



Beyond Celiac

Celiac disease resources, recipes, blogs, research, and discovery.

Celiac Disease Foundation

National nonprofit dedicated to accelerating diagnosis, treatments, and a cure for celiac disease.

Genetic Counselor

Find a genetic counselor for personalized help on genetic health.

Registered Dietitian

Find a registered dietitian for food and nutrition information.


Gluten ID Abstract

Development and validation of a high throughput next generation sequencing assay from buccal cell DNA as a cost-effective screening method for celiac genetic risk.

Shelly Gunn, Ambica Bhandari, Suman Verma, Harneet Gandhi, Dre’shon Rolle, Lony Lim, Philip Cotter, Mathew Moore.

Gluten ID presented at 2021 Association for Molecular Pathology meeting.

To download the poster please click here.