LongevityMap variant

Entry Details

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.
Identifier
DRB1*18
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

No homologs found

References

Listì et al. (2010)

Other variants which are also part of this study