All Conditions/Autoimmune & Inflammatory/Celiac Disease

Is Celiac Disease Genetic?

Celiac disease is an autoimmune disorder where eating gluten triggers an immune response that damages the small intestine lining. It can lead to malabsorption of nutrients and a wide range of symptoms.

Affects ~1 in 100 people.

Genetic Factors Behind Celiac Disease

Research has identified multiple genetic variants that influence a person's susceptibility to Celiac Disease. While no single gene determines whether someone will develop this condition, specific variants can increase or decrease risk. Key genes studied in relation to Celiac Disease include:

HLA-DQ2.5
HLA-DQ8
SH2B3
IL2
HLA-DQ2.5

HLA-DQ2.5 has been associated with celiac disease in genetic studies; as with most common variants, its individual effect is modest and works alongside many other genetic and non-genetic factors.

HLA-DQ8

HLA-DQ8 has been associated with celiac disease in genetic studies; as with most common variants, its individual effect is modest and works alongside many other genetic and non-genetic factors.

SH2B3

SH2B3 has been associated with celiac disease in genetic studies; as with most common variants, its individual effect is modest and works alongside many other genetic and non-genetic factors.

IL2

IL2 has been associated with celiac disease in genetic studies; as with most common variants, its individual effect is modest and works alongside many other genetic and non-genetic factors.

How GenomeInsight Analyzes Your Risk

GenomeInsight examines your raw DNA data from services like 23andMe, AncestryDNA, or whole-genome sequencing (VCF files) to identify genetic variants associated with Celiac Disease. The analysis is performed entirely in your browser, meaning your genetic data never leaves your device.

For each relevant variant, GenomeInsight reports your genotype, the associated risk allele, the odds ratio from published research, and your overall risk profile compared to the general population. Results are presented with easy-to-understand risk visualizations and percentile rankings.

Genetic risk is only one piece of the puzzle. Lifestyle, diet, environment, and family history all contribute to overall risk. GenomeInsight's analysis is for informational and educational purposes and is not a medical diagnosis.

Understanding Your Celiac Disease Results

After uploading your DNA file, you will receive a detailed health risk report covering 52 conditions, including Celiac Disease. For each condition, GenomeInsight analyzes multiple SNPs (single nucleotide polymorphisms) and calculates a combined risk assessment.

Your results will show whether you carry risk-increasing or protective alleles in genes like HLA-DQ2.5, HLA-DQ8, SH2B3, and IL2. Risk levels range from "Below Average" to "Significantly Increased," with population percentile comparisons to contextualize your results.

Frequently Asked Questions About Celiac Disease

Which genes are linked to Celiac Disease?

The variants most consistently associated with Celiac Disease lie in or near HLA-DQ2.5, HLA-DQ8, SH2B3, IL2. Each variant shifts risk modestly on its own; the report combines all of them into an overall genetic risk estimate compared with the reference population.

If I carry risk variants, will I develop Celiac Disease?

Not necessarily. A genetic predisposition means your probability is higher than average — it is not a diagnosis. Lifestyle, environment, age and chance all contribute, and most people with elevated genetic risk never develop the condition. Conversely, low genetic risk is not a guarantee of protection.

What DNA data do I need for this analysis?

A raw-data file from 23andMe, AncestryDNA, MyHeritage or a whole-genome VCF covers the markers used in this analysis. Upload takes place entirely in your browser — your file is never transmitted to or stored on any server.

Sources & Further Reading

The risk associations described on this page come from published genome-wide association studies and curated public genomic databases. Explore the primary sources for each gene:

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Discover Your Celiac Disease Risk Profile

Upload your 23andMe, AncestryDNA, or VCF file for a free, privacy-first genetic analysis covering Celiac Disease and 51 other health conditions.

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