HLA-DQ1 explained

major histocompatibility complex, class II, DQ1

HaplotypesDQA1*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-HLADQA1*0101
EBI-HLADQA1*0102
EBI-HLADQA1*0103
EBI-HLADQA1*0104
Identifiers

beta 1 *05 or *06

Symbol(s)HLA-DQB1
EBI-HLADQB1*05
EBI-HLADQB1*06
Shared data
Locuschr.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* DQ5DQ1 DQ6 Sample
allele % % % size (N)
0501 69 20 2 5536
0502 48 24 15 919
0503 58 22 4 1327
0504 59 17 2 48
.
DQ6DQ1 DQ5 N
0601 64 23 675
0602 67 30 1 5151
0603 62 23 2 2807
0604 59 27 2 1592
0605 76 13 358
0609 48 32 3 149

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*0501haplotype 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 commonancestry 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] andAIDS.[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.

Notes and References

  1. Trowsdale J, Lee J, Carey J, Grosveld F, Bodmer J, Bodmer W . 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 . 1983 . 6300884 . 10.1073/pnas.80.7.1972 . 393734 . 1983PNAS...80.1972T . free .
  2. Möller E, Carlsson B, Wallin J . Implication of structural class II gene polymorphism for the concept of serologic specificities . Immunol. Rev. . 85 . 107–28 . 1985 . 2412948 . 10.1111/j.1600-065X.1985.tb01132.x . 20971131 .
  3. http://www.ebi.ac.uk/imgt/hla/allele.html derived from IMGT/HLA
  4. Mizuki N . Association of HLA-B51 and lack of association of class II alleles with Behçet's disease . Tissue Antigens . 40 . 1 . 22–30 . 1992 . 1359669 . 10.1111/j.1399-0039.1992.tb01953.x . vanc. Ohno S . Tanaka H . 3 . Sugimura . Kazuhito . Seki . Takeshi . Mizuki . Nobuhiko . Kera . Jiro . Inaba . Goro . Tsuji . Kimiyoshi .
  5. Mizuki N . 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 . 1992 . 1358857 . vanc. Inoko H . Mizuki N . 3 . Tanaka . H . Kera . J . Tsuiji . K . Ohno . S .
  6. Niizeki H . HLA-DQA1, -DQB1 and -DRB1 genotyping in Japanese pemphigus vulgaris patients by the PCR-RFLP method . Tissue Antigens . 44 . 4 . 248–51 . 1994 . 7871526 . 10.1111/j.1399-0039.1994.tb02390.x . vanc. Inoko H . Mizuki N . 3 . Inamoto . Nobuko . Watababe . Kyoko . Hashimoto . Takashi . Nishikawa . Takeji .
  7. Gaber SA . Human leukocyte antigen class II polymorphisms and genetic susceptibility of IDDM in Egyptian children . Diabetes Care . 17 . 11 . 1341–4 . 1994 . 7821177 . 10.2337/diacare.17.11.1341 . vanc. Mazzola G . Berrino M . 3 . Canale . L. . Cornaglia . M. . Ghali . I. . Sergio Curtoni . E. . Amoroso . A. . 25150033 .
  8. Chuang LM . 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 . 1995 . 7624445 . vanc. Jou TS . Wu HP . 3 . Chang . HM . Tsai . WY . Hsieh . RP . Chen . KH . Lin . BJ . Tai . TY .
  9. Abe KK . Association of DQB1*0302 alloantigens in Japanese pediatric patients with steroid-sensitive nephrotic syndrome . Nephron . 70 . 1 . 28–34 . 1995 . 7617114 . 10.1159/000188540 . vanc. Michinaga I . Hiratsuka T . 3 . Ogahara . Satoru . Naito . Setsuya . Arakawa . Kikuo . Tsuru . Noboru . Tokieda . Keiko .
  10. Hjelmström P . Different HLA-DQ are positively and negatively associated in Swedish patients with myasthenia gravis . Autoimmunity . 22 . 1 . 59–65 . 1995 . 8882423 . 10.3109/08916939508995300 . vanc. Giscombe R . Lefvert AK . 3 . Pirskanen . Ritva . Kockum . Ingrid . Landin-Olsson . Mona . Sanjeevi . Carani B. .,
  11. Nieto A, Blanco Quirós A, Arranz E, Alonso Franch M, Garrote JA, Calvo C . Study of HLA-DQA1 alleles in celiac children . Journal of Investigational Allergology and Clinical Immunology . 5 . 4 . 209–15 . 1995 . 8705011 .
  12. Saruhan-Direskeneli G, Esin S, Baykan-Kurt B, Ornek I, Vaughan R, Eraksoy M . HLA-DR and -DQ associations with multiple sclerosis in Turkey . Hum. Immunol. . 55 . 1 . 59–65 . 1997 . 9328791 . 10.1016/S0198-8859(97)00086-4 .
  13. Höhler T . MHC class II genes influence the susceptibility to chronic active hepatitis C . J. Hepatol. . 27 . 2 . 259–64 . 1997 . 9288598 . 10.1016/S0168-8278(97)80169-9 . vanc. Gerken G . Notghi A . 3 . Knolle . P . Lubjuhn . R . Taheri . H . Schneider . PM . Meyer Zum Büschenfelde . KH . Rittner . C .
  14. Kim MH . Association of HLA with Vogt-Koyanagi-Harada syndrome in Koreans . Am. J. Ophthalmol. . 129 . 2 . 173–7 . 2000 . 10682969 . 10.1016/S0002-9394(99)00434-1 . vanc. Seong MC . Kwak NH . 3 . Yoo . Jin-Seong . Huh . Warne . Kim . Tai-Gyu . Han . Hoon .
  15. Rani R, Fernandez-Vina MA, Zaheer SA, Beena KR, Stastny P . Study of HLA class II alleles by PCR oligotyping in leprosy patients from north India . Tissue Antigens . 42 . 3 . 133–7 . 1993 . 8284786 . 10.1111/j.1399-0039.1993.tb02179.x .
  16. Kawahara Y . HLA-DQA1*0103-DQB1*0601 haplotype and Helicobacter pylori-positive gastric mucosa-associated lymphoid tissue lymphoma . Clin. Gastroenterol. Hepatol. . 3 . 9 . 865–8 . 2005 . 16234023 . 10.1016/S1542-3565(05)00185-0 . vanc. Mizuno M . Yoshino T . 3 . Yokota . K . Oguma . K . Okada . H . Fujiki . S . Shiratori . Y .
  17. Kroner BL, Goedert JJ, Blattner WA, Wilson SE, Carrington MN, Mann DL . 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 . 1995 . 7755916 . 10.1097/00002030-199509030-00009 .
  18. Dong RP, Kimura A, Numano F, Nishimura Y, Sasazuki T . 22943921 . HLA-linked susceptibility and resistance to Takayasu arteritis . Heart and Vessels. Supplement . 7 . 73–80 . 1992 . 1360976 . 10.1007/BF01744548 .
  19. Onishi S . DNA typing of HLA class II genes; DRB1*0803 increases the susceptibility of Japanese to primary biliary cirrhosis . J. Hepatol. . 21 . 6 . 1053–60 . 1994 . 7699227 . 10.1016/S0168-8278(05)80617-8 . vanc. Sakamaki T . Maeda T . 3 . Iwamura . S . Tomita . A . Saibara . T . Yamamoto . Y .
  20. Katsuren E, Awata T, Matsumoto C, Yamamoto K . HLA class II alleles in Japanese patients with Graves' disease: weak associations of HLA-DR and -DQ . Endocr. J. . 41 . 6 . 599–603 . 1994 . 7704083 . 10.1507/endocrj.41.599. free .
  21. Yoshitake S, Kimura A, Okada M, Yao T, Sasazuki T . HLA class II alleles in Japanese patients with inflammatory bowel disease . Tissue Antigens . 53 . 4 Pt 1 . 350–8 . 1999 . 10323339 . 10.1034/j.1399-0039.1999.530405.x .
  22. Olerup O, Olsson R, Hultcrantz R, Broome U . HLA-DR and HLA-DQ are not markers for rapid disease progression in primary sclerosing cholangitis . Gastroenterology . 108 . 3 . 870–8 . 1995 . 7875491 . 10.1016/0016-5085(95)90463-8 .
  23. Spurkland A . HLA class II haplotypes in primary sclerosing cholangitis patients from five European populations . Tissue Antigens . 53 . 5 . 459–69 . 1999 . 10372541 . 10.1034/j.1399-0039.1999.530502.x . vanc. Saarinen S . Boberg KM . 3 . Mitchell . S. . Broome . U. . Caballeria . L. . Ciusani . E. . Chapman . R. . Ercilla . G. .
  24. Guédez Y . HLA class II associations with rheumatic heart disease are more evident and consistent among clinically homogeneous patients . Circulation . 99 . 21 . 2784–90 . 1999 . 10351973 . 10.1161/01.cir.99.21.2784. vanc. Kotby A . El-Demellawy M . 3 . Galal . A . Thomson . G . Zaher . S . Kassem . S . Kotb . M . free .

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