HLA-DQB1
| is a | gene |
| is | mentioned by |
| Full name | major histocompatibility complex, class II, DQ beta 1 |
| EntrezGene | 3119 |
| PheGenI | 3119 |
| VariationViewer | 3119 |
| ClinVar | HLA-DQB1 |
| GeneCards | HLA-DQB1 |
| dbSNP | 3119 |
| Diseases | HLA-DQB1 |
| SADR | 3119 |
| HugeNav | 3119 |
| wikipedia | HLA-DQB1 |
| HLA-DQB1 | |
| gopubmed | HLA-DQB1 |
| EVS | HLA-DQB1 |
| HEFalMp | HLA-DQB1 |
| MyGene2 | HLA-DQB1 |
| 23andMe | HLA-DQB1 |
| UniProt | P01920 |
| Ensembl | ENSG00000179344 |
| OMIM | 604305 |
| # SNPs | 14 |
| Max Magnitude | Chromosome position | Summary | |
|---|---|---|---|
| rs1049225 | 0 | 32,659,970 | |
| rs1063348 | 0 | 32,660,146 | |
| rs1063355 | 0 | 32,659,937 | |
| rs1130375 | 0 | 32,665,043 | |
| rs1130380 | 0 | 32,664,917 | |
| rs12722106 | 0 | 32,666,505 | |
| rs12722107 | 0 | 32,665,056 | |
| rs2854275 | 0 | 32,660,651 | |
| rs3189152 | 0 | 32,666,564 | |
| rs36222416 | 0 | 32,666,562 | |
| rs4988889 | 0 | 32,667,175 | |
| rs7775228 | 0 | 32,690,302 | |
| rs9274407 | 0 | 32,665,055 | |
| rs9274477 | 0 | 32,665,936 |
HLA-DQB1(also called called IDDM1 - because of T1DM risk) is the beta 1 subunit of the HLA-DQ surface receptor, in the human MHC, part of immune regulation. It is associated with immune conditions.
Type 1 Diabetes: DQB1*0201 and DQB1*0302 are high risk, particularly together.
The HLA DQB1*06:02 form has been strongly connected with narcolepsy. [PMID 23497937]
Nearly all Celiac pateints are HLA-DQ2 and/or HLA-DQ8 positive. The highest risk was in HLA-DQB1*02 homozygosity with the HLA-DQ2.5 heterodimer (HLA-DQA1*05-DQB1*02) [PMID 25413104].
HLA-DQB1*02 was protective for breast cancer in Jordanians [PMID 24377640].
HIV-1: DQB1*06 was associated with surviving. CD4 decline was not associated with expression of the asp57 polymorphism by Vyakarnam et al. (2004). DQB1*03 and DQB1*06 are correlated with seroreversion in infants.
HLA-DQB1*0501 is associated with scleroderma in Chinese [PMID 24067471].
HLA-DQB1*03 confers susceptibility to hepatitis C in Japanese.
Myasthenia gravis (MG)susceptibility was connected to -DQ5. DQB1*05 was replicated in connection with MuSK-MG type. [PMID 23993985]
TB: DQB1*0503 has a significant association with susceptibility in Cambodians, Goldfeld et al. (1998). Delgado et al. (2006) found susceptibility was significantly associated with homozygosity of the Asp57 allele.
DQB1*0202 is possibly connected to podoconiosis.
Tag SNPs for HLA-DQB1 antitypes on the 1M Illumina chip[edit]
| HLA | SNP | r2 | HLA_FRQ | SNP_FRQ |
|---|---|---|---|---|
| DQB1*03:04 | rs17501267 | 0.072 | 0.003 | 0.04 |
| DQB1*03:05 | rs11759238 | 0.006 | 0.000 | 0.02 |
| DQB1*04:01 | rs9368704 | 0.033 | 0.003 | 0.01 |
| DQB1*05:04 | rs28732193 | 0.054 | 0.001 | 0.02 |
