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HLA-DQA1

From SNPedia

is agene
is mentioned by
Full namemajor histocompatibility complex, class II, DQ alpha 1
EntrezGene3117
PheGenI3117
VariationViewer3117
ClinVarHLA-DQA1
GeneCardsHLA-DQA1
dbSNP3117
SADR3117
HugeNav3117
wikipediaHLA-DQA1
googleHLA-DQA1
gopubmedHLA-DQA1
EVSHLA-DQA1
HEFalMpHLA-DQA1
MyGene2HLA-DQA1
23andMeHLA-DQA1
UniProtP01909
EnsemblENSG00000196735
OMIM146880
# SNPs23
 Max MagnitudeChromosome positionSummary
rs1041981231,573,007
rs107163032,641,349
rs112974032,641,328
rs1272204232,637,532
rs1272205132,641,370
rs17612858332,652,845
rs180068331,572,294
rs200965831,570,467
rs2187668332,638,107
rs222909431,572,779
rs223970431,572,364
rs284448231,571,990
rs284448431,568,447
rs2857708031,565,829
rs692702232,644,620
rs74686831,572,652
rs7762619031,563,533
rs799032,642,188
rs90925331,572,536
rs91565431,570,720
rs9272346332,636,595Type-1 diabetes
rs927253532,638,979
rs92881531,563,438


HLA-DQA1 codes for the alpha 1 subunit of the HLA-DQ MHC cell surface receptor, which is important for organ donation and immune diseases. There are four common alleles: DQA1*0101, *0102, *0103, *0104, with 33 total. The combination with HLA-DQB1 forms the modern DQ serotypes: DQ2, DQ4-9. DQ1 was split into 5 and 6, while 3 was removed for lacking specificity.

Missense variants C34Y (rs1129740) and F41S (rs1071630) were replicated in studies of South Asians and white Europeans to be associated with SSNS(Steroid-sensitive nephrotic syndrome)[PMID 25349203]. rs2187668 was significantly associated with idiopathic membranous nephropathy in French, Dutch, and British [PMID 21323541].

rs9272346, near DQA1, was associated with asthma [PMID 23181788].