LongevityMap variant group
Entry Details
- 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.
Variants (2)
1.
- Identifier
- DRB111
- Cytogenetic Location
- 6p21.32
- UCSC Genome Browser
- View 6p21.32 on the UCSC genome browser
2.
- Identifier
- DRB113
- Cytogenetic Location
- 6p21.32
- UCSC Genome Browser
- View 6p21.32 on the UCSC genome browser
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]
- Other longevity studies of this gene
- 8
- OMIM
- 142857
- Ensembl
- ENSG00000196126
- UniProt/Swiss-Prot
- 2B13_HUMAN
- Entrez Gene
- 3123
- UniGene
- 534322
- HapMap
- View on HapMap
Homologs in model organisms
- Danio rerio
- mhc2dab
- Danio rerio
- si:dkey-33b17.3
- Danio rerio
- zgc:103700
- Danio rerio
- mhc2dbb
- Danio rerio
- mhc2dab
- Danio rerio
- zgc:103700
- Danio rerio
- si:zfos-2070c2.3
- Danio rerio
- mhc2dab
- Danio rerio
- si:busm1-228j01.6
- Danio rerio
- si:busm1-228j01.4
- Danio rerio
- mhc2dab
- Danio rerio
- si:ch73-158p21.3
- Danio rerio
- si:busm1-194e12.12
- Danio rerio
- si:busm1-228j01.4
- Danio rerio
- si:busm1-104n07.3
- Mus musculus
- H2-Eb2
- Mus musculus
- H2-Eb1
- Rattus norvegicus
- RT1-Db2
- Rattus norvegicus
- RT1-Db1