LongevityMap Gene

Gene details

HGNC symbol
HLA-DQA1 
Aliases
DQ-A1; CELIAC1; HLA-DQA 
Common name
major histocompatibility complex, class II, DQ alpha 1 
Description
HLA-DQA1 belongs to the HLA class II alpha chain paralogues. The 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 alpha chain is approximately 33-35 kDa. It is encoded by 5 exons; exon 1 encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, and exon 4 encodes the transmembrane domain and 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. [provided by RefSeq, Jul 2008]
Cytogenetic Location
6p21.32
UCSC Genome Browser
View 6p21.32 on the UCSC genome browser
OMIM
146880
Ensembl
ENSG00000196735
UniProt/Swiss-Prot
A0A173ADG5_HUMAN
Entrez Gene
3117
UniGene
387679
1000 Genomes
1000 Genomes

Homologs in model organisms

Mus musculus
H2-Aa
Rattus norvegicus
RT1-Ba

Studies (4)

Significant/Non-significant: 2/2

Study 1

Longevity Association
Non-significant
Population
Mexican
Study Design
A total of 71 healthy elders were studied, age ranged from 80 to 96 years (mean 86.2 years). The control samples were obtained from 99 young (from 21 - 54 years; mean 35.2 years) healthy individuals unrelated to elders.
Conclusions
The frequencies of the alleles tested were not statistically different among groups
Indentifier
HLA-DQA1
Reference

    Study 2

    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 DQA* allele sharing
    Indentifier
    HLA-DQA1
    Reference

      Study 3

      Longevity Association
      Significant
      Population
      Japanese
      Study Design
      82 centenarians (64 females, 100- 106y, average 101.1y), 20 nonagenarians (16 females, 90- 99y, average 96.5y) and 159 healthy adults (81 females, 18- 88y, average 58.1y) were genotyped for associations with longevity involving 80 HLA antigen phenotypes.
      Conclusions
      Extremely low frequency of HLA-DRw9 and an increased frequency of DR1 were found in centenarians and nonagenarians populations. HLA-DRw9 was a risk factor for longevity (corrected P = 0.0001). HLA-DR1 was a favourable factor for longevity (corrected P = 0.00367). High frequency of HLA-DRw9 and low frequency of DR1 are known to be associated with autoimmune or immune deficiency diseases.
      Indentifier
      HLA-DQA1
      Reference

        Study 4

        Longevity Association
        Significant
        Population
        Japanese (Okinawa)
        Study Design
        Polymorphisms in HLA class II alleles of Okinawan centenarians were analyzed
        Conclusions
        DQA10101=0104 and DQA105 alleles were significantly more frequent in the centenarians
        Indentifier
        DQA10101=0104
        Reference