LongevityMap Gene

Gene details

HGNC symbol
HLA-DRB1 
Aliases
SS1; DRB1; HLA-DRB; HLA-DR1B 
Common name
major histocompatibility complex, class II, DR beta 1 
Description
HLA-DRB1 belongs to the HLA class II beta chain paralogs. The class II molecule is a heterodimer consisting of an alpha (DRA) and a beta chain (DRB), 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. It is encoded by 6 exons. Exon one 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 DR molecule the beta chain contains all the polymorphisms specifying the peptide binding specificities. Hundreds of DRB1 alleles have been described and typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. DRB1 is expressed at a level five times higher than its paralogs DRB3, DRB4 and DRB5. DRB1 is present in all individuals. Allelic variants of DRB1 are linked with either none or one of the genes DRB3, DRB4 and DRB5. There are 4 related pseudogenes: DRB2, DRB6, DRB7, DRB8 and DRB9. [provided by RefSeq, Jul 2008]
Cytogenetic Location
6p21.32
UCSC Genome Browser
View 6p21.32 on the UCSC genome browser
OMIM
142857
Ensembl
ENSG00000196126
UniProt/Swiss-Prot
2B13_HUMAN
Entrez Gene
3123
UniGene
534322
1000 Genomes
1000 Genomes

Homologs in model organisms

No homologs found

Studies (6)

Significant/Non-significant: 4/2

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
An increased frequency of HLA-DRB1*11 was found in elderly women whereas this allele was not present in elderly males, though no significant differences between age groups were observed
Indentifier
HLA-DRB1*11
Reference

    Study 2

    Longevity Association
    Significant
    Population
    French
    Study Design
    The longevous groups included two independent cohorts totalling 533 centenarians and 163 nonagenarian siblings. Control group included 2950 subjects.
    Conclusions
    DR7 frequency was elevated in longevous men and DR13 frequency was increased in centenarians. DR11's influence on longevity displayed a significant interaction with sex, with an increase in women from longevous sibships. HLA-DR homozygotes were more frequent in centenarians than in controls.
    Indentifier
    HLA-DRB1
    Reference

      Study 3

      Longevity Association
      Significant
      Population
      Italian (Palermo)
      Study Design
      77 centenarians and 299 healthy controls were genotyped for HLA-DRB1 and 44 centenarians and 57 healthy controls for KIR receptors=HLA ligands
      Conclusions
      An HLA allele (DRB1*18) was associated with longevity. No significant association between successful aging and KIR gene content was observed in this Sicilian population.
      Indentifier
      DRB1*18
      Reference

        Study 4

        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-DRB1
        Reference

          Study 5

          Longevity Association
          Significant
          Population
          Japanese (Okinawa)
          Study Design
          Polymorphisms in Okinawan centenarians were analyzed
          Conclusions
          DRB1*1401 allele was significantly increased in the centenarians while DRB1*0101 and DRB1*1201 alleles were slightly decreased
          Indentifier
          DRB1*1401
          Reference

            Study 6

            Longevity Association
            Non-significant
            Population
            Bulgarian
            Study Design
            10 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 HLADRB1 alleles in elderly Bulgarians were DRB111 and DRB113. The most frequent haplotypes in elderly Bulgarians compared to the controls were DRB111-DQB103 and DRB113-DQB106, though this was not statistically significant after correcting for multiple testing.
            Indentifier
            DRB111
            Reference