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HLA-DRB1

From SNPedia

is agene
is mentioned by
Full namemajor histocompatibility complex, class II, DR beta 1
EntrezGene3123
PheGenI3123
VariationViewer3123
ClinVarHLA-DRB1
GeneCardsHLA-DRB1
dbSNP3123
SADR3123
HugeNav3123
wikipediaHLA-DRB1
googleHLA-DRB1
gopubmedHLA-DRB1
EVSHLA-DRB1
HEFalMpHLA-DRB1
MyGene2HLA-DRB1
23andMeHLA-DRB1
UniProtP01911
EnsemblENSG00000196126
OMIM142857
# SNPs8
 Max MagnitudeChromosome positionSummary
rs105955332,489,219
rs148699775032,581,815
rs3481731532,489,219
rs67431332,610,305
rs70795332,589,729
rs745196232,614,658
rs926995532,584,361
rs927030532,589,729


HLA-DRB1 is one the HLA genes that make up the human major histocompatibility complex, surface antigens that regulate the immune system, contributing the beta-1 subunit of the HLA-DR receptor, along with B3-B5. It is connected to a number of immune conditions.

The DRB1*1501 allele is linked to HLA-DRA rs3135388 A, and this was used to connect *1501 to a 1.99x risk of MS in 7740 subjects by the International Multiple Sclerosis Genetics Consortium (2007). HLA-DRB1*0401 and HLA-DRB1*0408 (odds ratio: 5.15), but not other HLA alleles, were strongly associated with neutralizing antibodies to interferon-B for MS by Hoffmann et al. (2008)

HLA-DRB1*04:04-DQB1*03:02 and HLA-DRB1*08-DQB1*04 haplotypes have risk of type 1 diabetes, which is further increased by HLA-B*39. [PMID 24055898]

Cervical Cancer: DRB1*0301, *0403,*0404, *0803, *1312 and *1502 were associated with a increased risk and DRB1*03 and DRB1*08 had negative correlations in all 12 studies of Chinese subgroups. [PMID 24551099]

DRB1*0301 is a risk for Parkinson's in Chinese Han; HLA-DRB1*0406 may be protective. [PMID 23139797]

HLA-DRB1*04, *0401, *0404, *0405 and *0410 are risk factors for rheumatoid arthritis in Chinese.

DRB1*08:03 allele is signifigantly associated with primary biliary cirrhosis.

HLA-DRB1*1101 is more common in sarcoidosis.

Hep B Vaccine: DRB1*08 was positively associated with the hepatitis B vaccination responder phenotype, mostly due to DRB1*0804. DRB1*03 and DRB1*0701 were found in 54% of nonresponders, 41% of medium responders, and 28% of high responders. Li et al. (2009)

DRB1*1301 was negatively associated with age-related macular degeneration independent of linkage by Goverdhan et al. (2005).

Gottenberg et al. (2003) confirmed the association of Sjogren syndrome with DRB1*03 and DQB1*02 in patients with anti-SSA and anti-SSB antibodies.

HLA-DRB1*07:01 is associated with asparaginase allergies.

Tag SNPs for HLA-DRB1 antitypes on the 1M Illumina chip[edit]

HLA SNP r2 HLA_FRQ SNP_FRQ
DRB1*03:01 rs2187668 0.077 0.08
DRB1*03:04 rs2517623 0.004 0.000 0.01
DRB1*04:03 rs3763305 0.061 0.010 0.06
DRB1*04:06 rs9391637 0.011 0.001 0.01
DRB1*04:07 rs4947332 0.047 0.010 0.02
DRB1*04:08 rs17501267 0.077 0.010 0.04
DRB1*04:09 rs9267658 0.003 0.000 0.06
DRB1*04:10 rs6902544 0.007 0.000 0.01
DRB1*04:11 rs3817964 0.010 0.001 0.06
DRB1*04:37 rs7742120 0.003 0.000 0.07
DRB1*08:02 rs9501626 0.039 0.004 0.09
DRB1*08:03 rs2395148 0.039 0.003 0.03
DRB1*08:04 rs7356880 0.066 0.003 0.03
DRB1*08:06 rs9469063 0.013 0.000 0.03
DRB1*11:02 rs28366191 0.016 0.003 0.05
DRB1*11:03 rs17208888 0.052 0.004 0.07
DRB1*11:04 rs17208888 0.059 0.010 0.07
DRB1*11:06 rs11754099 0.011 0.001 0.03
DRB1*11:08 rs9469024 0.017 0.000 0.01
DRB1*12:01 rs3129888 0.054 0.010 0.10
DRB1*13:04 rs3130666 0.012 0.000 0.02
DRB1*13:05 rs17208888 0.010 0.001 0.07
DRB1*14:02 rs7761890 0.017 0.002 0.02
DRB1*14:05 rs3129727 0.011 0.000 0.02
DRB1*14:06 rs12055568 0.017 0.001 0.03
DRB1*14:07 rs11575840 0.012 0.000 0.02
DRB1*14:15 rs3129727 0.016 0.000 0.02
DRB1*16:02 rs9270986 0.034 0.003 0.09