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

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

Naumova et al. (2004)