LongevityMap variant

Entry Details

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.
Identifier
HLA-DQA1
In Other Studies (IDs)
196 215
Cytogenetic Location
6p21.32
UCSC Genome Browser
View 6p21.32 on the UCSC genome browser

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]
Other longevity studies of this gene
4
OMIM
146880
Ensembl
ENSG00000196735
UniProt/Swiss-Prot
A0A173ADG5_HUMAN
Entrez Gene
3117
UniGene
387679
HapMap
View on HapMap

Homologs in model organisms

Mus musculus
H2-Aa
Rattus norvegicus
RT1-Ba

References

Takata et al. (1987)

Other variants which are also part of this study