HLA-DQ8
Celiac Disease Susceptibility and 1 other association.
What is HLA-DQ8?
HLA-DQ8 is a variant of a human leukocyte antigen (HLA) gene, the system the immune system uses to present fragments of proteins — including drugs bound to proteins — to T cells. Particular HLA alleles bind particular drugs, which is why carrying one can turn an ordinarily safe medicine into a severe immune reaction, and why some alleles track autoimmune conditions.
How common is HLA-DQ8?
| European | 12.0% |
|---|---|
| East Asian | 8.0% |
| African | 5.0% |
| Global | 9.0% |
Conditions linked to HLA-DQ8
- Celiac Disease Susceptibility moderate risk
- HLA-DQ8 is found in ~5-10% of celiac disease patients who are DQ2.5-negative. Combined DQ2.5+DQ8 testing captures >99% of celiac patients. Absence of both DQ2.5 and DQ8 essentially excludes celiac disease (NPV >99%).
Evidence: GWAS OR ~3-4 · Source: ESPGHAN Guidelines; Multiple GWAS studies - Type 1 Diabetes Susceptibility moderate risk
- HLA-DQ8 is one of the strongest genetic risk factors for T1D, especially when combined with HLA-DR4.
Evidence: GWAS OR ~4-7 · Source: T1DGC; Nature Genetics 2007
How is HLA-DQ8 inferred from a consumer DNA file?
Consumer chips do not sequence HLA genes. HLA-DQ8 is inferred from the tag SNP rs7454108 (risk allele C), which travels with the HLA allele on the same stretch of chromosome. How reliably it does so (r²) differs by ancestry:
| European | 0.85 |
|---|---|
| East Asian | 0.75 |
| African | 0.7 |
| Global | 0.78 |
A tag-SNP call is a probability, not a laboratory HLA type. A positive result that would change a prescription should be confirmed by clinical HLA typing.
Upload your 23andMe, AncestryDNA or WeGene raw file → · Ask G2: “Am I likely to carry HLA-DQ8, and what should I tell my doctor?”
Genetic associations describe risk across populations, not a diagnosis for any one person. Most variants shift risk modestly and act alongside lifestyle, environment and other genes. Consumer DNA chips do not read every position and can be wrong at any single one. For general education only; talk to a clinician or genetic counsellor before acting on anything here, and never change a prescribed medicine without your prescriber.