Illustration of HLA-DQ with peptide in the binding pocket
major histocompatibility complex, class II, DQ1
Haplotypes DQA1*0101:DQB1*0501 DQA1*0101:DQB1*0502 DQA1*0102:DQB1*0502 DQA1*0104:DQB1*0503 DQA1*0103:DQB1*0601 DQA1*0102:DQB1*0602 DQA1*0103:DQB1*0603 DQA1*0102:DQB1*0604 DQA1*0102:DQB1*0605 DQA1*0102:DQB1*0609....
Structure
Identifiers
alpha 1 *0101 *0102 *0103 *0104
Symbol(s) HLA-DQA1
EBI-HLA DQA1*0101
EBI-HLA DQA1*0102 Archived 2011-05-15 at the Wayback Machine
EBI-HLA DQA1*0103
EBI-HLA DQA1*0104
Identifiers
beta 1 *05 or *06
Symbol(s) HLA-DQB1
EBI-HLA DQB1*05
EBI-HLA DQB1*06
Shared data
Locus chr.6 6p21.31

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;[1] later, it was among 3 types DQw1 (later DQ1, and split into DQ5 and DQ6), DQw2 and DQw3. Of these three serotyping specificities only DQw1 recognized DQ alpha chain.[2] 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.

Serotypes

Some DRB1* alleles and DQ5, DQ1, DQ6 recognition [3]
DQB1*DQ5 DQ1DQ6Sample
allele % % %size (N)
0501692025536
0502482415919
0503582241327
05045917248
.
DQ6 DQ1DQ5N
06016423675
0602673015151
0603622322807
0604592721592
06057613358
060948323149

The serotyping efficiency of DQ1 recognition relative to DQ5 and DQ6 is listed below. Since DQ1 recognizes alpha, the DQ5 and DQ6 recognition are to beta chain. Meaning that DQ1 is corecognized with DQ5 and DQ6.

The table to the left shows some of the serotyping efficiencies. Efficient recognition of a genotyped allele approaches 100%. Compared to DQ2 serotyping of DQB1*0201 positive individuals (98%), the efficiency of DQ1 recognition is relatively low and error prone.

For this reason DQ1 serotyping is a poor method of typing for transplantation or disease association prediction or study. Nonetheless, it is still widely used and association purported in the literature.

Alleles

DQA1*0101

DQA1*0101 is commonly linked to haplotypes of DQB1*05, the common DQA1*0101:DQB1*0501 haplotype which is part of a broader DR1-DQ1 haplotype.

DQA1*0102

DQA1*0102 is associated with both DR5 and DR6.

DQA1*0102:DQB1*0502 has a bimodal distribution. It is found in the Philippines in high frequency and on the Mediterranean island of Sardinia.

DQA1*0102:DQB1*0602 is a very common haplotype in Eurasia, with higher frequency in central Asia relative to elsewhere. It is part of a European ancestral haplotype B7-DR15-DQ1 that appears to have expanded asymmetrically into Europe. The A3-B7-DR15-DQ1 haplotype indicates relationships in Eurasia that span from Korea to Ireland, indicating some common ancestry in recent times.

DQA1*0102:DQB1*0604 much less frequently found but spread widely.

DQA1*0103

DQA1*0103 (*0103) shows a negative (protective) association with many autoimmune disease, this association is apparent in Japanese studies in the *0103:DQB1*0601 haplotype, and in Europe with the *0103:DQB1*0603 haplotype, indicating the protective effect is influenced by the alpha chain of DQ. DQA1*0103 is protective against Behçet's disease,[4][5] pemphigus vulgaris,[6] juvenile diabetes,[7][8] steroid-sensitive nephrotic syndrome,[9] myasthenia gravis[10] coeliac disease[11] multiple sclerosis,[12] chronic active hepatitis C,[13] and Vogt–Koyanagi–Harada syndrome.[14] However, it may predispose carriers to chronic infection such as leprosy,[15] Helicobacter pylori-positive gastric lymphoma,[16] and AIDS.[17]

DQA1*0103:DQB1*0601 is part of a multigene haplotype (DRB1*1502:DRB5*0102:DQA1*0103:DQB1*0601:DPA1*02:DPB1*0901) linked to Takayasu's arteritis in Japanese.[18] Another haplotype, DR8-DQ1 which contains this haplotype may be associated with primary biliary cirrhosis,[19] Graves' disease[20] There is a negative association of this DR15-DQ1 haplotype in Japanese with inflammatory bowel disease.[21]

DQA1*0103:DQB1*0603 is part of a DR-DQ haplotype (DR13-DQ1) that increases for primary sclerosing cholangitis[22][23] The same haplotype shows a negative association with rheumatic heart disease,[24]

DQA1*0104

DQA1*0104:DQB1*0503 is part of a multigene haplotype DR14-DQ5 that is associated with MuSK positive Myasthenia gravis.

References

  1. ↑ Trowsdale J, Lee J, Carey J, Grosveld F, Bodmer J, Bodmer W (1983). "Sequences related to HLA-DR alpha chain on human chromosome 6: restriction enzyme polymorphism detected with DC alpha chain probes". Proc. Natl. Acad. Sci. U.S.A. 80 (7): 1972–6. Bibcode:1983PNAS...80.1972T. doi:10.1073/pnas.80.7.1972. PMC 393734. PMID 6300884.
  2. ↑ Möller E, Carlsson B, Wallin J (1985). "Implication of structural class II gene polymorphism for the concept of serologic specificities". Immunol. Rev. 85: 107–28. doi:10.1111/j.1600-065X.1985.tb01132.x. PMID 2412948. S2CID 20971131.
  3. ↑ derived from IMGT/HLA
  4. ↑ Mizuki N, Ohno S, Tanaka H, et al. (1992). "Association of HLA-B51 and lack of association of class II alleles with Behçet's disease". Tissue Antigens. 40 (1): 22–30. doi:10.1111/j.1399-0039.1992.tb01953.x. PMID 1359669.
  5. ↑ Mizuki N, Inoko H, Mizuki N, et al. (1992). "Human leukocyte antigen serologic and DNA typing of Behçet's disease and its primary association with B51". Invest. Ophthalmol. Vis. Sci. 33 (12): 3332–40. PMID 1358857.
  6. ↑ Niizeki H, Inoko H, Mizuki N, et al. (1994). "HLA-DQA1, -DQB1 and -DRB1 genotyping in Japanese pemphigus vulgaris patients by the PCR-RFLP method". Tissue Antigens. 44 (4): 248–51. doi:10.1111/j.1399-0039.1994.tb02390.x. PMID 7871526.
  7. ↑ Gaber SA, Mazzola G, Berrino M, et al. (1994). "Human leukocyte antigen class II polymorphisms and genetic susceptibility of IDDM in Egyptian children". Diabetes Care. 17 (11): 1341–4. doi:10.2337/diacare.17.11.1341. PMID 7821177. S2CID 25150033.
  8. ↑ 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.
  9. ↑ Abe KK, Michinaga I, Hiratsuka T, et al. (1995). "Association of DQB1*0302 alloantigens in Japanese pediatric patients with steroid-sensitive nephrotic syndrome". Nephron. 70 (1): 28–34. doi:10.1159/000188540. PMID 7617114.
  10. ↑ Hjelmström P, Giscombe R, Lefvert AK, et al. (1995). "Different HLA-DQ are positively and negatively associated in Swedish patients with myasthenia gravis". Autoimmunity. 22 (1): 59–65. doi:10.3109/08916939508995300. PMID 8882423.,
  11. ↑ Nieto A, Blanco Quirós A, Arranz E, Alonso Franch M, Garrote JA, Calvo C (1995). "Study of HLA-DQA1 alleles in celiac children". Journal of Investigational Allergology and Clinical Immunology. 5 (4): 209–15. PMID 8705011.
  12. ↑ Saruhan-Direskeneli G, Esin S, Baykan-Kurt B, Ornek I, Vaughan R, Eraksoy M (1997). "HLA-DR and -DQ associations with multiple sclerosis in Turkey". Hum. Immunol. 55 (1): 59–65. doi:10.1016/S0198-8859(97)00086-4. PMID 9328791.
  13. ↑ Höhler T, Gerken G, Notghi A, et al. (1997). "MHC class II genes influence the susceptibility to chronic active hepatitis C". J. Hepatol. 27 (2): 259–64. doi:10.1016/S0168-8278(97)80169-9. PMID 9288598.
  14. ↑ Kim MH, Seong MC, Kwak NH, et al. (2000). "Association of HLA with Vogt-Koyanagi-Harada syndrome in Koreans". Am. J. Ophthalmol. 129 (2): 173–7. doi:10.1016/S0002-9394(99)00434-1. PMID 10682969.
  15. ↑ Rani R, Fernandez-Vina MA, Zaheer SA, Beena KR, Stastny P (1993). "Study of HLA class II alleles by PCR oligotyping in leprosy patients from north India". Tissue Antigens. 42 (3): 133–7. doi:10.1111/j.1399-0039.1993.tb02179.x. PMID 8284786.
  16. ↑ Kawahara Y, Mizuno M, Yoshino T, et al. (2005). "HLA-DQA1*0103-DQB1*0601 haplotype and Helicobacter pylori-positive gastric mucosa-associated lymphoid tissue lymphoma". Clin. Gastroenterol. Hepatol. 3 (9): 865–8. doi:10.1016/S1542-3565(05)00185-0. PMID 16234023.
  17. ↑ Kroner BL, Goedert JJ, Blattner WA, Wilson SE, Carrington MN, Mann DL (1995). "Concordance of human leukocyte antigen haplotype-sharing, CD4 decline and AIDS in hemophilic siblings. Multicenter Hemophilia Cohort and Hemophilia Growth and Development Studies". AIDS. 9 (3): 275–80. doi:10.1097/00002030-199509030-00009. PMID 7755916.
  18. ↑ Dong RP, Kimura A, Numano F, Nishimura Y, Sasazuki T (1992). "HLA-linked susceptibility and resistance to Takayasu arteritis". Heart and Vessels. Supplement. 7: 73–80. doi:10.1007/BF01744548. PMID 1360976. S2CID 22943921.
  19. ↑ Onishi S, Sakamaki T, Maeda T, et al. (1994). "DNA typing of HLA class II genes; DRB1*0803 increases the susceptibility of Japanese to primary biliary cirrhosis". J. Hepatol. 21 (6): 1053–60. doi:10.1016/S0168-8278(05)80617-8. PMID 7699227.
  20. ↑ Katsuren E, Awata T, Matsumoto C, Yamamoto K (1994). "HLA class II alleles in Japanese patients with Graves' disease: weak associations of HLA-DR and -DQ". Endocr. J. 41 (6): 599–603. doi:10.1507/endocrj.41.599. PMID 7704083.
  21. ↑ Yoshitake S, Kimura A, Okada M, Yao T, Sasazuki T (1999). "HLA class II alleles in Japanese patients with inflammatory bowel disease". Tissue Antigens. 53 (4 Pt 1): 350–8. doi:10.1034/j.1399-0039.1999.530405.x. PMID 10323339.
  22. ↑ Olerup O, Olsson R, Hultcrantz R, Broome U (1995). "HLA-DR and HLA-DQ are not markers for rapid disease progression in primary sclerosing cholangitis". Gastroenterology. 108 (3): 870–8. doi:10.1016/0016-5085(95)90463-8. PMID 7875491.
  23. ↑ Spurkland A, Saarinen S, Boberg KM, et al. (1999). "HLA class II haplotypes in primary sclerosing cholangitis patients from five European populations". Tissue Antigens. 53 (5): 459–69. doi:10.1034/j.1399-0039.1999.530502.x. PMID 10372541.
  24. ↑ Guédez Y, Kotby A, El-Demellawy M, et al. (1999). "HLA class II associations with rheumatic heart disease are more evident and consistent among clinically homogeneous patients". Circulation. 99 (21): 2784–90. doi:10.1161/01.cir.99.21.2784. PMID 10351973.
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