LongevityMap Gene

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]
Cytogenetic Location: 6p21.32
UCSC Genome Browser: View 6p21.32 on the UCSC genome browser
OMIM: 146880
Ensembl: ENSG00000196735
UniProt/Swiss-Prot: A0A173ADG5_HUMAN
Entrez Gene: 3117
UniGene: 387679
1000 Genomes: 1000 Genomes

Homologs in model organisms

Danio rerio: si:busm1-48c11.3
Danio rerio: si:busm1-266f07.2
Danio rerio: si:busm1-266f07.2
Danio rerio: si:busm1-194e12.8
Danio rerio: si:zfos-2070c2.1
Danio rerio: si:ch73-211l2.3
Danio rerio: zgc:123107
Danio rerio: si:zfos-367g9.1
Danio rerio: CU914776.1
Danio rerio: si:busm1-160c18.1
Danio rerio: si:busm1-266f07.2
Danio rerio: si:busm1-48c11.3
Danio rerio: si:zfos-367g9.1
Danio rerio: si:busm1-266f07.2
Danio rerio: si:busm1-48c11.3
Danio rerio: si:busm1-194e12.8
Danio rerio: si:zfos-2070c2.1
Danio rerio: si:busm1-48c11.3
Danio rerio: si:busm1-266f07.2
Danio rerio: si:ch73-211l2.3
Danio rerio: CU914776.1
Danio rerio: si:busm1-266f07.2
Danio rerio: si:busm1-160c18.1
Danio rerio: zgc:123107
Mus musculus: H2-Aa
Mus musculus: H2-Aa
Rattus norvegicus: RT1-Ba
Rattus norvegicus: RT1-Ba

Studies (4)

Significant/Non-significant: 2/2

Study 1

Longevity Association

Non-significant

Population

Study Design

A total of 71 healthy elders were studied, age ranged from 80 to 96 years (mean 86.2 years). The control samples were obtained from 99 young (from 21 - 54 years; mean 35.2 years) healthy individuals unrelated to elders.

Conclusions

The frequencies of the alleles tested were not statistically different among groups

Indentifier

Reference

Study 2

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 DQA* allele sharing

Indentifier

Reference

Study 3

Longevity Association

Population

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.

Indentifier

Reference

Study 4

Longevity Association

Population

Japanese (Okinawa)

Study Design

Polymorphisms in HLA class II alleles of Okinawan centenarians were analyzed

Conclusions

DQA10101=0104 and DQA105 alleles were significantly more frequent in the centenarians

Indentifier

Reference