LongevityMap variant

Entry Details

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.
Identifier
HLA-DQB1
Cytogenetic Location
6p21.32
UCSC Genome Browser
View 6p21.32 on the UCSC genome browser

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]
Other longevity studies of this gene
4
OMIM
604305
Ensembl
ENSG00000179344
UniProt/Swiss-Prot
DQB1_HUMAN
Entrez Gene
3119
UniGene
409934
HapMap
View on HapMap

Homologs in model organisms

Mus musculus
H2-Ab1
Rattus norvegicus
RT1-B

References

Scola et al. (2006)

Other variants which are also part of this study