HLA-DQB1*06:02
Narcolepsy Type 1 Susceptibility and 1 other association.
What is HLA-DQB1*06:02?
HLA-DQB1*06:02 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.
rs3135388 tags both HLA-DQB1*06:02 and HLA-DRB1*15:01 due to strong LD in the DR15 haplotype.
How common is HLA-DQB1*06:02?
| European | 13.0% |
|---|---|
| East Asian | 8.0% |
| African | 10.0% |
| Global | 10.0% |
Conditions linked to HLA-DQB1*06:02
- Narcolepsy Type 1 Susceptibility high risk
- HLA-DQB1*06:02 is present in >98% of narcolepsy type 1 patients but also in ~25% of the general population. This allele is necessary but not sufficient for narcolepsy. If experiencing excessive daytime sleepiness or cataplexy, consult a sleep specialist.
Evidence: GWAS OR ~250 (narcolepsy type 1); near-obligate association · Source: Mignot et al., Nature Genetics; International Narcolepsy Consortium · One of the strongest known HLA-disease associations. ~25% of the general population carries this allele. - Multiple Sclerosis Susceptibility moderate risk
- HLA-DRB1*15:01 (tagged by the same SNP rs3135388) is the strongest genetic risk factor for MS. This represents one of many genetic and environmental factors.
Evidence: GWAS OR ~3.0 · Source: IMSGC GWAS; Nature 2011
How is HLA-DQB1*06:02 inferred from a consumer DNA file?
Consumer chips do not sequence HLA genes. HLA-DQB1*06:02 is inferred from the tag SNP rs3135388 (risk allele A), which travels with the HLA allele on the same stretch of chromosome. How reliably it does so (r²) differs by ancestry:
| European | 0.9 |
|---|---|
| East Asian | 0.75 |
| African | 0.7 |
| Global | 0.8 |
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-DQB1*06:02, 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.