major histocompatibility complex, class II, DQ7
| |
| Haplotypes | DQA1*03:02:DQB1*03:01 DQA1*03:03:DQB1*03:01 DQA1*04:01:DQB1*03:01 DQA1*05:05:DQB1*03:01 DQA1*06:01:DQB1*03:01 |
| Structure (See HLA-DQ) | |
| Identifiers | alpha 1 *0302 *0303 *0401 *0505 *0601
|
| Symbol(s) | HLA-DQA1[permanent dead link] |
| EBI-HLA | DQA1*0302 |
| EBI-HLA | DQA1*0303 |
| EBI-HLA | DQA1*0401 |
| EBI-HLA | DQA1*0505 |
| EBI-HLA | DQA1*0601 |
| Identifiers | beta 1 *0301 *0304
|
| Symbol(s) | HLA-DQB1 |
| EBI-HLA | DQB1*0301 |
| EBI-HLA | DQB1*0304 |
| Shared data | |
| Locus | chr.6 6p21.31 |
HLA-DQ7 (DQ7) is an HLA-DQ serotype that recognizes the common HLA DQB1*0301[1] 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.
DQ7 is linked by haplotype to a number of DQA1 (DQ alpha chain) genes, producing in cis-haplotype form, a large number of DQ αβ isoforms. These DQ alpha chains are also known to form transhaplotype isomers with other HLA-DQ.
DQ7 is linked to the following alpha chains genes (DQA1*)
- 03 – *0301, *0302, *0303
- 0401
- 0505
- 0601
Serology
edit| DQB1* | DQ7 | DQ3 | DQ8 | Sample |
| allele | % | % | % | size (N) |
| 0301 | 85 | 40 | 1 | 12220 |
| 0304 | 40 | 35 | 8 | 111 |
Serotyping efficiency. The serotyping efficiency of DQ7 toward DQB1*0301 is reasonably good, but still results in some false negatives, for *0304 the typing efficiency is poor and cross-reaction with DQ8 is relatively high.
Alleles
editDQB1*0301
editDQB1*0301 is the major DQ7 allele DQB1*0301 appears to be associated with lupus anticoagulant.[3]
DQB1*0304
editDQB1*0304 is the minor DQ7 allele
Haplotypes
edit| freq | ||
| ref. | Population | (%) |
| [4] | Chukotka Chukchi (Siberia) | 26.7 |
| [4] | Chukotka Eskimos (Siberia) | 25.0 |
| [4] | Koryaks (NE Kamchatka, Siberia) | 19.1 |
| [4] | Polygus Evenks (Siberia) | 11.4 |
| [4] | Khalkh (Ulaanbaatar, Mongolia) | 11.0 |
| [4] | Negidal (Siberia) | 9.6 |
| [4] | Kushun Buryat (Siberia) | 8.0 |
| [4] | Tarialan Khoton (Mongolia) | 7.8 |
| [4] | France Ceph | 6.0 |
| [4] | Russia Tuva (2) | 6.0 |
| [4] | Udegeys Gvaysugi (Siberia) | 4.8 |
| [4] | Irkutsk Tofalar (Siberia ) | 4.7 |
| [4] | Ulchi (Siberia) | 4.1 |
| [4] | Belgian pop2 | 4.1 |
| [4] | England Caucasoid | 4.0 |
| [4] | Italy pop 2 | 2.8 |
| [4] | Russia Tuva Todja | 2.3 |
| [4] | China Ürümqi Kazak | 2.4 |
| [4] | Sulamai Kets (Siberia) | 2.3 |
| [4] | Russia Siberia Nganasan Dudinka | 2.1 |
| [4] | NW Slavic Russia | 2.0 |
| [4] | Japan Fukuoka | 1.2 |
| [4] | Japan (2) | 1.1 |
DQ haplotypes of this serotype are formed between the cis-chromosomal genes of the DQA1 locus. This includes DQA1*0301, *0302, *0303, *0401, *0505, *0601.
There is a rather large degree of disequilibration about DQA1*0301 suggesting that this is one of the older and more established HLA DQB1* alleles in Eurasia. The intron structure of DQB1 suggest that DQB1*0301 DQB1*0302/*0303 split occurred before DQB1*0302/*0303, the distribution of *03 in Africa suggest that recombination DQA1*03:DQB1*0301 are primarily the result of recombination events that have occurred in Africa. A recent study of myasthenia gravis in Houston confirms the presence of A*0505:B*0301 in Nigeria. B1*0301 and A1*03 haplotypes are found at relatively high frequencies in SE Asia and Austronesia, also indicating that it is well established in the exo-African population.
DQ7.3
editThe DQ7.3 haplotype can be formed by DQA1*0301:DQB1*0301, DQA1*0302:DQB1*0301, DQA1*0303:DQB1*0301. In the west, the DQA1*0303:DQB1*0301 haplotype appears to be more common. The gene products of all 3 function similarly and subunits are interchangeable. In the literature, older DNA tests recognize DQA1*0303 as DQA1*0302, and still oldest DNA tests recognize all three as DQA1*03 or DQA1*0301.
DQA1*0303:DQB1*0301 may be involved in narcolepsy.[5] DQ7.3 appears to be associated with oral ulcerations and gingival disease [6]
DQ7.4
edit| freq | ||
| ref. | Population | (%) |
| [4] | Chukotka Chukchi (Siberia) | 9.5 |
| [4] | Gvaysugi Udegeys (Siberia) | 9.5 |
| [4] | Chukotka Eskimos (Siberia) | 8.7 |
| [4] | Polygus Evenks (Siberia) | 7.2 |
| [4] | NE Koryaks (Kamchatka) | 6.5 |
| [4] | Cameroon Saa | 4.4 |
| [4] | Sulamai Kets (Siberia) | 2.3 |
| [4] | Gambia | 1.4 |
| [4] | Fukuoka Japan | 1.2 |
| [7] | Caucasian Americans | 0.3 |
DQA1*0401:DQB1*0301 (DQ7.4) This haplotype is found in Siberia, Africa but also at low levels in Western Europe.
DQ7.5
edit| freq | ||
| ref. | Population | (%) |
| [4] | Lebanon (estimated) | 40.0 |
| [4] | Italy Rome | 29.6 |
| [4] | Netherlands (2) | 15.5 |
| [4] | Tunisia | 14.6 |
| [4] | England (2) | 10.1 |
| [4] | South Korea | 6.8 |
| [4] | Congo Kinshasa Bantu | 4.4 |
DQA1*0505:DQB1*0301 (DQ7.5) was gene-typed as DQA1*0501:DQB1*0301 until it was recognized that there was amino acid sequence variant in the preprocessed DQA1* gene product (proto-α-chain polypeptide encoded DQA1*0505). This proto-alpha, once processed, is identical to the DQA1*0501 encoded α-chain once it is processed. Almost 100% of DQ7.5 haplotypes carry the DQA1*0505 allele.[8] The DR5-DQ7.5 is common in the Southeastern Europe and the Levant, with DQ7.5 reaching a haplotype frequency of 40% in Lebanon. Its high level is probably not by chance, the haplotype appears to protect against juvenile diabetes, which appears to be more common among cereal eating peoples.[9] Cereals were first domesticated in the Near and Middle East more than 10,000 years ago and selection may explain DQ7.5's higher frequencies. (See: Triticeae)
The processed alpha subunit of DQA1*0505 is identical to that of DQA1*0501, but some slight differences in the association with autoimmune disease are observed, possibly as a result of linked DR and DQB1 genes. DQA1*0505 can play into celiac disease under two circumstances. First it can increase risk when DQ2.5 is present, although current studies indicate that it marginally increases risk relative to DQB1*0202 in DQ2.5 cis haplotype. DQA1*0505, without DQ2, is found in a small percentage of coeliac disease (without DQ2 or DQ8).[10]
DQ7.5 is found also high in frequency in the new world, but with DR types less commonly encountered in the old world. DQA1*05 allele is not clear in the new world. DQB1*0301 may be under current positive selection in the human population, at least in areas where DQ2.5 and DQ8 are high, as it confers resistance to type 1 diabetes. For hepatitis type B, DQ7 is associated with persistence but for C, DQ7 is associated with clearance.[11] DQA1*0505, DQB1*0301 appear to increase the risk for melanoma in the Spanish population however this may have a linkage to more recent fair skinned migrants. DQB1*0301 is also associated with allergic fungal sinusitis, human papillomavirus (HPV) induced warts, limited cutaneous systemic sclerosis in Africans, and primary sclerosing cholangitis in Southern Europeans. DQB1*0301 is also predisposing in narcolepsy.[5] DQB1*0301 does not to play a role in any frequently occurring autoimmune disease and its presence in the near east and suppressed frequencies of coeliac disease and Type 1 diabetes in these regions is suggestive that it has a positive selection in Post-Mesolithic cereal based societies in the Western Eurasia.
DQB1*0301 appears to be more associated with early onset myasthenia gravis in Japanese than DQ8, and was also found along with DQB1*0304 to be associated with Chinese MG. DQ7 or associated DR types may play a role in rheumatoid arthritis. In celiac disease the DQ7 (A*0505/1) can mediate celiac disease when HLA DQ2.2 is also present. HLA DQB1*0301 in Turks is associated with Thymoma but the risk may be associated with HLA class I loci.
DQ7.6
edit| freq | ||
| ref. | Population | (%) |
| [4] | Java Yogyakarta | 48.1 |
| [4] | Kiribati | 37.9 |
| [4] | Nauru | 28.4 |
| [4] | Harbin City (Manchuria, China) | 12.8 |
| [4] | Thailand | 12.7 |
| [4] | South Korean (5) | 4.4 |
| [4] | China Beijing and Xian | 3.5 |
| [4] | Japan | 3.0 |
| [4] | India Bombay | 1.7 |
| [4] | England Caucasoid | 0.6 |
| [4] | Italy Central | 0.6 |
| [4] | Algeria1 | 0.5 |
| [4] | Cameroon | 0.4 |
DQA1*0601:DQB1*0301 (DQ7.6) is a globally rare haplotype, however it is found at high frequencies in the South Pacific and along the West Pacific rim. DQB1*0301 appears to be uniquely linked to DQA1*0601. DQ7.6 is positively associated with asthma,[12] pauciarticular juvenile arthritis without anti-nuclear antibodies,[13] DQ7.6 is negatively associated (Protective against) juvenile diabetes,[14] liver and spleen disease in Schistosoma japonicum infection,[15] pulmonary tuberculosis.[16]
References
edit- ^ Bunce M, Taylor CJ, Welsh KI (1993). "Rapid HLA-DQB typing by eight polymerase chain reaction amplifications with sequence-specific primers (PCR-SSP)". Hum. Immunol. 37 (4): 201–6. doi:10.1016/0198-8859(93)90502-R. PMID 7905469.
- ^ derived from IMGT/HLA
- ^ Arnett FC, Olsen ML, Anderson KL, Reveille JD (1991). "Molecular analysis of major histocompatibility complex alleles associated with the lupus anticoagulant". J. Clin. Invest. 87 (5): 1490–5. doi:10.1172/JCI115158. PMC 295227. PMID 1673688.
- ^ a b c d e f g h i j k l m n o p q r s t u v w x y z aa ab ac ad ae af ag ah ai aj ak al am an ao ap aq ar as at au av aw ax ay az Middleton D, Menchaca L, Rood H, Komerofsky R (2003). "New allele frequency database". Tissue Antigens. 61 (5): 403–7. doi:10.1034/j.1399-0039.2003.00062.x. PMID 12753660.
- ^ a b Hong SC, Lin L, Lo B, et al. (2007). "DQB1*0301 and DQB1*0601 modulate narcolepsy susceptibility in Koreans". Hum. Immunol. 68 (1): 59–68. doi:10.1016/j.humimm.2006.10.006. PMID 17207713.
- ^ Yunis JJ, Mobini N, Yunis EJ, Alper CA, Deulofeut R, Rodriguez A, Foster CS, Marcus-Bagley D, Good RA, Ahmed AR (August 1994). "Common major histocompatibility complex class II markers in clinical variants of cicatricial pemphigoid". Proc Natl Acad Sci U S A. 91 (16): 7747–51. Bibcode:1994PNAS...91.7747Y. doi:10.1073/pnas.91.16.7747. PMC 44479. PMID 8052655.
- ^ Klitz W, Maiers M, Spellman S, et al. (2003). "New HLA haplotype frequency reference standards: high-resolution and large sample typing of HLA DR-DQ haplotypes in a sample of European Americans". Tissue Antigens. 62 (4): 296–307. doi:10.1034/j.1399-0039.2003.00103.x. PMID 12974796.
- ^ Pera C, Delfino L, Longo A, Pistillo MP, Ferrara GB (2000). "Novel associations among HLA-DQA1 and -DQB1 alleles, revealed by high-resolution sequence-based typing (SBT)". Tissue Antigens. 55 (3): 275–9. doi:10.1034/j.1399-0039.2000.550313.x. PMID 10777105.
- ^ Almawi WY, Wakim-Ghorayeb SF, Arekat MR, et al. (2006). "Association of selective HLA class II susceptibility-conferring and protective haplotypes with type 2 diabetes in patients from Bahrain and Lebanon". Clin. Vaccine Immunol. 13 (11): 1296–8. doi:10.1128/CVI.00206-06. PMC 1656545. PMID 16988007.
- ^ Karell K, Louka AS, Moodie SJ, et al. (2003). "HLA types in celiac disease patients not carrying the DQA1*05-DQB1*02 (DQ2) heterodimer: results from the European Genetics Cluster on Celiac Disease". Hum. Immunol. 64 (4): 469–77. doi:10.1016/S0198-8859(03)00027-2. PMID 12651074.
- ^ Singh R, Kaul R, Kaul A, Khan K (2007). "A comparative review of HLA associations with hepatitis B and C viral infections across global populations". World J. Gastroenterol. 13 (12): 1770–87. doi:10.3748/wjg.v13.i12.1770. PMC 4149952. PMID 17465466.
- ^ Guo X, Ni P, Li L (2001). "[Association between asthma and the polymorphism of HLA-DQ genes]". Zhonghua Jie He He Hu Xi Za Zhi (in Chinese). 24 (3): 139–41. PMID 11802952.
- ^ Donn RP, Thomson W, Pepper L, et al. (1995). "Antinuclear antibodies in early onset pauciarticular juvenile chronic arthritis (JCA) are associated with HLA-DQB1*0603: a possible JCA-associated human leucocyte antigen haplotype". Br. J. Rheumatol. 34 (5): 461–5. doi:10.1093/rheumatology/34.5.461. PMID 7788177.
- ^ Chuang LM, Jou TS, Wu HP, et al. (1995). "HLA DQA1 genotypes and its interaction with HLA DQB1 in Chinese IDDM living in Taiwan". Proc. Natl. Sci. Counc. Repub. China B. 19 (2): 73–9. PMID 7624445.
- ^ Waine GJ, Ross AG, Williams GM, Sleigh AC, McManus DP (1998). "HLA class II antigens are associated with resistance or susceptibility to hepatosplenic disease in a Chinese population infected with Schistosoma japonicum". Int. J. Parasitol. 28 (4): 537–42. doi:10.1016/S0020-7519(98)00020-4. PMID 9602373.
- ^ Vejbaesya S, Chierakul N, Luangtrakool K, Srinak D, Stephens HA (2002). "Associations of HLA class II alleles with pulmonary tuberculosis in Thais". Eur. J. Immunogenet. 29 (5): 431–4. doi:10.1046/j.1365-2370.2002.00352.x. PMID 12358854.