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HLA-DQB1

From SNPedia

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is mentioned by
Full namemajor histocompatibility complex, class II, DQ beta 1
EntrezGene3119
PheGenI3119
VariationViewer3119
ClinVarHLA-DQB1
dbSNP3119
SADR3119
HugeNav3119
wikipediaHLA-DQB1
googleHLA-DQB1
gopubmedHLA-DQB1
EVSHLA-DQB1
HEFalMpHLA-DQB1
MyGene2HLA-DQB1
23andMeHLA-DQB1
UniProtP01920
EnsemblENSG00000179344
OMIM604305
# SNPs13
 Max MagnitudeChromosome positionSummary
rs106335532,659,937
rs1130375
rs113038032,664,917
rs12722106
rs12722107
rs2854275032,660,651
rs3189152
rs36222416
rs690602132,658,534
rs7775228032,690,302
rs927334932,658,092
rs92733632.132,658,49523andMe's Type 1 Diabetes SNP
rs9274407032,665,055


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