LongevityMap Gene

Gene details

HGNC symbol
HLA-DQB1 
Aliases
IDDM1; CELIAC1; HLA-DQB 
Common name
major histocompatibility complex, class II, DQ beta 1 
Description
HLA-DQB1 belongs to the HLA class II beta chain paralogs. This class II molecule is a heterodimer consisting of an alpha (DQA) and a beta chain (DQB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa and it contains six exons. Exon 1 encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and exon 5 encodes the cytoplasmic tail. Within the DQ molecule both the alpha chain and the beta chain contain the polymorphisms specifying the peptide binding specificities, resulting in up to four different molecules. Typing for these polymorphisms is routinely done for bone marrow transplantation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011]
Cytogenetic Location
6p21.32
UCSC Genome Browser
View 6p21.32 on the UCSC genome browser
OMIM
604305
Ensembl
ENSG00000179344
UniProt/Swiss-Prot
DQB1_HUMAN
Entrez Gene
3119
UniGene
409934
1000 Genomes
1000 Genomes

Homologs in model organisms

Mus musculus
H2-Ab1
Rattus norvegicus
RT1-B

Studies (3)

Significant/Non-significant: 1/2

Study 1

Longevity Association
Non-significant
Population
Italian (Sardinia)
Study Design
129 centenarians and 154 sexagenarians randomly selected from the inhabitants of the same province were examined. In addition, 24 85-year-old sibs of centenarians were enrolled.
Conclusions
Sib pair analysis showed nonsignificant differences between the observed and expected percentage of DQB1* allele sharing.
Indentifier
HLA-DQB1
Reference

    Study 2

    Longevity Association
    Significant
    Population
    Japanese (Okinawa)
    Study Design
    Polymorphisms in HLA class II alleles of Okinawan centenarians were analyzed
    Conclusions
    DQB105 and DQB103 alleles were significantly more frequent in the centenarians
    Indentifier
    DQB105
    Reference

      Study 3

      Longevity Association
      Non-significant
      Population
      Bulgarian
      Study Design
      5 alleles were examined in 17 unrelated elderly (age 65-90 years; 6 males and 11 females), 23 family members (age 18-57 years; 9 males and 14 females, and a control group with 105 randomly selected, matched for geographical distribution healthy controls aged 25-53 years (40 male and 65 female)
      Conclusions
      The most frequent DQB1 alleles in elderly Bulgarians were DQB103 and DQB105, though differences were not statistically significant after correcting for multiple testing
      Indentifier
      DQB105
      Reference