LongevityMap variant group

Entry Details

Longevity Association
Non-significant
Population
Bulgarian
Study Design
5 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 DQB1 alleles in elderly Bulgarians were DQB103 and DQB105, though differences were not statistically significant after correcting for multiple testing

Variants (2)

1.
Identifier
DQB105
In Other Studies (IDs)
392
Cytogenetic Location
6p21.32
UCSC Genome Browser
View 6p21.32 on the UCSC genome browser
2.
Identifier
DQB103
In Other Studies (IDs)
395
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

Naumova et al. (2004)

Other variants which are also part of this study