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human major histocompatibility complex, class II, DR7 | |
| Haplotypes groups | DQA*01:DRB1*0701 |
| Structure (See HLA-DR) | |
| Identifiers | alpha *01:01 |
| Symbol(s) | HLA-DRA [ permanent dead link ] |
| EBI-HLA | DRA*01:01 |
| Identifiers | beta 1 *07:01 |
| Symbol(s) | HLA-DRB1 [ permanent dead link ] |
| EBI-HLA | DRB1*07:01 |
| Shared data | |
| Locus | chr.6 6p21.31 |
HLA-DR7 (DR7) is a HLA-DR serotype that recognizes the DRB1*0701 to *0705 gene products.
| DRB1* | DR7 | Sample |
| allele | % | size (N) |
| 0701 | 99 | 7390 |
| 0704 | >30% | 1 |
The serological reaction of DR7 is excellent for *0701. The serology of *0703 to *0705 to *0709, and *0711 to *0714 serotypes is unknown. DRB1*0710N is a null allele. DRB1*0702 nomenclature has been deleted.
DR7 is positively associated with psoriasis vulgaris.
DRB1*07 is linked to T. cruzi infection with cardiomyopathy (also called Chaga's cardiomyopathy).
DR7:DQA1*0201:DQB1*0202 is associated with Graves' disease. [2]
DR7-DQ2 /DR5-DQ7 phenotype (transhaplotype encoded isoform DQα5β2) is the primary risk DQ isoform in celiac disease. DR7-DQ2/DR5-DQ7 (/DR11-DQ7 or /DR12-DQ7) is a clarifying identifier for the at risk transhaplotype.
DR53-DR7 may be associated with sclerosis/lupus associated anti-apolipoprotein antibodies.
DR7 Haplotypes | ||||
| Serotypes | DRA | DRB1 | DRB4 | |
|---|---|---|---|---|
| DR7-DR53 | *0101 | *0701 | *01 | |
| Serotypes | DQA1 | DQB1 | DRB1 | |
| DR7-DQ2 (2.2) | *0201 | *0202 | *0701 | |
| DR7-DQ9 (9.2, 3) | *0201 | *0303 | *0701 | |
| Serotypes | HLA-A | HLA-C | HLA-B | DRB1 |
| A29(19)-Cw16-B44(16)-DR7 | *2902 | *1601 | *4403 | *0701 |
| A30(19)-Cw6-B13-DR7 | *3001 | *0602 | *1302 | *0701 |
| A33(19)-Cw7-B44(16)-DR7 | *3301 | *0701 | *4403 | *0701 |
HLA-DR7 is genetically linked HLA-DR53, and is linked to DQ2 serotypes. There are a few interesting genetics with DR7. The A29-Cw16-B44-DR7-DQ2 haplotype is in strong linkage disequilibrium particularly in Northwestern Europe. The highest frequencies tend to be coastal countries along the Atlantic. The Cw16 allele is undoubtedly derived from Western Africa the diversity and frequency of Cw16 declines away from the along the Greenwich longitudinal line. The level of linkage disequilibration about Cw16 postulates a recent arrival from Africa, and indicates a substantial contribution as far north as Ireland. The A33-Cw7-B44-DR7 offers the same scenario. This haplotype is found in Korea but not Japan, in fact Japan is an antinode of DR7. The most frequent A-B-DR-DQ haplotypes in Korea are found at ~3/4 the Korean frequencies in Japan, except A33-Cw7-B44-DR7-DQ2, which indicates that DR7 likely spread into Korea after the Japan's Yayoi migration when most of the Korean contribution occurred. Similarities with Mongol genes suggest that Central and East- Central Asian are the likely source, confirmed by the fact the haplotype is found in Pakistan, China and India. There is the possibility that this haplotype is a recent (Holocene) arrival from Africa or the Middle East to Central Asia as this best explains the alleles within the haplotype. The A19 (A29, A30, A31, A32, A33, A74) serotypes are very much enriched in sub-saharan and Western Africa, including Iberia, and disequilibrated components of DR7 show a tendency to be linked to A19 serotypes.[ citation needed ]
The human leukocyte antigen (HLA) system or complex is a complex of genes on chromosome 6 in humans which encode cell-surface proteins responsible for regulation of the immune system. The HLA system is also known as the human version of the major histocompatibility complex (MHC) found in many animals.
HLA-DQ (DQ) is a cell surface receptor protein found on antigen-presenting cells. It is an αβ heterodimer of type MHC class II. The α and β chains are encoded by two loci, HLA-DQA1 and HLA-DQB1, that are adjacent to each other on chromosome band 6p21.3. Both α-chain and β-chain vary greatly. A person often produces two α-chain and two β-chain variants and thus 4 isoforms of DQ. The DQ loci are in close genetic linkage to HLA-DR, and less closely linked to HLA-DP, HLA-A, HLA-B and HLA-C.
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.
HLA-DQ8 (DQ8) is a human leukocyte antigen serotype within the HLA-DQ (DQ) serotype group. DQ8 is a split antigen of the DQ3 broad antigen. DQ8 is determined by the antibody recognition of β8 and this generally detects the gene product of DQB1*0302.
HLA-DQ2 (DQ2) is a serotype group within HLA-DQ (DQ) serotyping system. The serotype is determined by the antibody recognition of β2 subset of DQ β-chains. The β-chain of DQ is encoded by HLA-DQB1 locus and DQ2 are encoded by the HLA-DQB1*02 allele group. This group currently contains two common alleles, DQB1*0201 and DQB1*0202. HLA-DQ2 and HLA-DQB1*02 are almost synonymous in meaning. DQ2 β-chains combine with α-chains, encoded by genetically linked HLA-DQA1 alleles, to form the cis-haplotype isoforms. These isoforms, nicknamed DQ2.2 and DQ2.5, are also encoded by the DQA1*0201 and DQA1*0501 genes, respectively.
HLA-DQ9 (DQ9) is a human leukocyte antigen serotype within the HLA-DQ (DQ) serotype group. DQ9 is a split antigen of the DQ3 broad antigen. DQ9 is determined by the antibody recognition of β9 and this generally detects the gene product of DQB1*0303.
HLA-DQ7 (DQ7) is an HLA-DQ serotype that recognizes the common HLA DQB1*0301 and the less common HLA DQB1*0304 gene products. DQ7 is a form of 'split antigen' of the broad antigen group DQ3 which also contains DQ8 and DQ9.
HLA-DQ1 is a serotype that covers a broad range of HLA-DQ haplotypes. Historically it was identified as a DR-like alpha chain called DC1; later, it was among 3 types DQw1, DQw2 and DQw3. Of these three serotyping specificities only DQw1 recognized DQ alpha chain. The serotype is positive in individuals who bear the DQA1*01 alleles. The most frequently found within this group are: DQA1*0101, *0102, *0103, and *0104. In the illustration on the right, DQ1 serotyping antibodies recognizes the DQ α (magenta), where antibodies to DQA1* gene products bind variable regions close to the peptide binding pocket.
HLA-DR11 (DR11) is a HLA-DR serotype that recognizes the DRB1*1101 to *1110. DR11 serotype is a split antigen of the older HLA-DR5 serotype group which also contains the similar HLA-DR12 antigens.
HLA-DR12(DR12) is a HLA-DR serotype that recognizes the DRB1*1201 to *1203, *1206. DR12 serotype is a split antigen of the older HLA-DR5 serotype group which also contains the similar HLA-DR11 antigens.
HLA-DR3 is composed of the HLA-DR17 and HLA-DR18 split 'antigens' serotypes. DR3 is a component gene-allele of the AH8.1 haplotype in Northern and Western Europeans. Genes between B8 and DR3 on this haplotype are frequently associated with autoimmune disease. Type 1 diabetes mellitus is associated with HLA-DR3 or HLA-DR4. Nearly half the US population has either DR3 or DR4, yet only a small percentage of these individuals will develop type 1 diabetes.
In autoimmune disease, anti-apolipoprotein H (AAHA) antibodies, also called anti-β2 glycoprotein I antibodies, comprise a subset of anti-cardiolipin antibodies and lupus anticoagulant. These antibodies are involved in sclerosis and are strongly associated with thrombotic forms of lupus. As a result AAHA are strongly implicated in autoimmune deep vein thrombosis.
HLA-A*02 (A*02) is a human leukocyte antigen serotype within the HLA-A serotype group. The serotype is determined by the antibody recognition of the α2 domain of the HLA-A α-chain. For A*02, the α chain is encoded by the HLA-A*02 gene and the β chain is encoded by the B2M locus. In 2010 the World Health Organization Naming Committee for Factors of the HLA System revised the nomenclature for HLAs. Before this revision, HLA-A*02 was also referred to as HLA-A2, HLA-A02, and HLA-A*2.
HLA-A33 (A33) is a human leukocyte antigen serotype within HLA-A serotype group. The serotype is determined by the antibody recognition of α33 subset of HLA-A α-chains. For A33, the alpha "A" chain are encoded by the HLA-A*33 allele group and the β-chain are encoded by B2M locus. A33 and A*33 are almost synonymous in meaning. A33 is a split antigen of the broad antigen serotype A19. A33 is a sister serotype of A29, A30, A31, A32, and A74.
HLA-A32 (A32) is a human leukocyte antigen serotype within HLA-A serotype group. The serotype is determined by the antibody recognition of α32 subset of HLA-A α-chains. For A32, the alpha "A" chain are encoded by the HLA-A*32 allele group and the β-chain are encoded by B2M locus. This group currently is dominated by A*3201. A32 and A*32 are almost synonymous in meaning. A32 is a split antigen of the broad antigen serotype A19. A32 is a sister serotype of A29, A30, A31, A33, and A74.
HLA-A29 (A29) is a human leukocyte antigen serotype within HLA-A serotype group. The serotype is determined by the antibody recognition of α29 subset of HLA-A α-chains. For A29, the alpha "A" chain are encoded by the HLA-A*29 allele group and the β-chain are encoded by B2M locus. This group currently is dominated by A*2902. A29 and A*29 are almost synonymous in meaning. A29 is a split antigen of the broad antigen serotype A19. A29 is a sister serotype of A30, A31, A32, A33, and A74.
HLA-Cw*16 (Cw*16) is an HLA-C allele-group. The serotype identifies the more common HLA-Cw*16 gene products. This allele group is most commonly found in West Africa, but A single Haplotype of Cw16 is found in Western Europe at unusually high frequencies. There is no useful serology for Cw*16.
HLA A1-B8-DR3-DQ2 haplotype is a multigene haplotype that covers a majority of the human major histocompatibility complex on chromosome 6. A multigene haplotype is set of inherited alleles covering several genes, or gene-alleles; common multigene haplotypes are generally the result of descent by common ancestry. Chromosomal recombination fragments multigene haplotypes as the distance to that ancestor increases in number of generations.
HLA A1-B8 is a multigene haplotype that covers the MHC Class I region of the human major histocompatibility complex on chromosome 6. A multigene haplotype is set of inherited alleles covering several genes, or gene-alleles; common multigene haplotypes are generally the result of identity by descent from a common ancestor. Chromosomal recombination fragments multigene haplotypes as the distance to that ancestor increases in number of generations.
HLA A30-Cw5-B18-DR3-DQ2 (A30::DQ2) is a multigene haplotype that extends across a majority of the major histocompatibility complex on human chromosome 6. A multigene haplotype is a set of inherited alleles covering several genes, or gene-alleles. Long haplotypes, like A30::DQ2, are generally the result of descent by common ancestry. As haplotypes increase in size, Chromosomal recombination fragments them in a generation dependent process.