HLA DR3-DQ2
| Multi-gene haplotype, human | |||
|---|---|---|---|
 |
|||
| HLA region on chromosome 6 | |||
| HLA DR3-DQ2 | |||
| Nicknames | HLA DRB1*0301:DQA1*0501:DQB1*0201 | ||
| Loci | Gene | Allele | Serotype |
| HLA-DR | HLA-DRA | *0101 | |
| HLA-DRB1 | *0301 | DR3 | |
| HLA-DRB3 | *0101 | DR52 | |
| HLA-DQ | HLA-DQA1 | *0501 | |
| HLA-DQB1 | *0201 | DQ2 | |
| Nodes | |||
| PopulationMaxima | Freq.Max | ||
| Sardinia | 22% | ||
| Size and location | |||
| Genes | Location | size (kbps) | |
| 5 | 6 | 6p21.3 | 300 |
| Associated diseases | |||
| Haplotype (gene) |
Disease(s) | ||
| DQ2.5 | Coeliac disease | ||
| DR3-DQ2 | Juvenile diabetes | ||
| DR3-DQ2 | Sarcoidosis | ||
HLA DR3-DQ2 is double serotype that specifically recognizes cells from individuals who carry a multigene HLA DR, DQ haplotype. Certain HLA DR and DQ genes have known involvement in autoimmune diseases. DR3-DQ2, a multigene haplotype, stands out in prominence because it is a factor in several prominent diseases, namely coeliac disease and juvenile diabetes. In coeliac disease, the DR3-DQ2 haplotype is associated with highest risk for disease in first degree relatives, highest risk is conferred by DQA1*0501:DQB1*0201 homozygotes and semihomozygotes of DQ2, and represents the overwhelming majority of risk. HLA DR3-DQ2 encodes DQ2.5cis isoform of HLA-DQ, this isoform is described frequently as 'the DQ2 isoform', but in actuality there are two major DQ2 isoform. The DQ2.5 isoform, however, is many times more frequently associated with autoimmune disease, and as a result to contribution of DQ2.2 is often ignored.
The frequency of both diseases changes with respect to both the environment (diet) and the frequency of the DR3-DQ2. With coeliac disease risk is increased with the consumption of Triticeae glutens, and this also increases risk in juvenile diabetes whereas other cereals also appear to play a role. More importantly the risk of disease is greatest in homozygotes and linear increases in haplotype resulting in several fold increases of disease risk. This increased risk is most prominent in a rare cancer, enteropathy associated T-cell lymphoma. HLA-DR3-DQ2 is found in HLA A1-B8-DR3-DQ2 haplotype in Northern Europeans (including the British Ilse, Ireland, Iceland).
HLA DR3-DQ2 is the serotypic representation of a HLA-DRB1:DQA1:DQB1 cis-chromosomal haplotype on human 6p21.3 in a region known as the HLA complex. The DR3-DQ2 haplotype is notable because of the very strong linkage between genes that extends into the HLA-A, -B and -C regions of the HLA gene complex in northern and northwestern Europe. The linked haplotype is HLA A1-B8-DR3-DQ2 (AH8.1 in the most recent literature)
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