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Gene Review

HLA-DQB1  -  major histocompatibility complex, class II...

Homo sapiens

Synonyms: CELIAC1, HLA class II histocompatibility antigen, DQ beta 1 chain, HLA-DQB, IDDM1, MHC class II antigen DQB1
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Disease relevance of HLA-DQB1


Psychiatry related information on HLA-DQB1

  • HLA-DQB1 typing was performed in 60 Caucasian subjects with sleepwalking (SW) disorder and their families and 60 ethnically matched subjects without any diagnosed sleep disorder [6].
  • We studied infant feeding patterns and childhood diet by structured questionnaire (n = 725) and HLA-DQB1 genotype by a polymerase chain reaction-based method (n = 556) in siblings of affected children and followed them for clinical type 1 diabetes [7].
  • Moreover, the monitoring of patients with concomitant celiac and autoimmune thyroid diseases, after a gluten-free diet or a gluten-containing diet, can give important insights into the effect of dietary habits in thyroid autoantibodies modulation [8].
  • CASE REPORT: We treated a 22-year-old white female who carried the concomitant diagnoses of Schizophrenia, IDDM, and Hypothyroidism with quetiapine and risperidone on an acute basis at our inpatient facility, and observed an apparent resolution of her brittle diabetes with the successful treatment of her psychotic disorder [9].
  • Rheumatoid arthritis in a patient with Asperger's syndrome and IDDM [10].

High impact information on HLA-DQB1


Chemical compound and disease context of HLA-DQB1


Biological context of HLA-DQB1

  • Thus, HLA-DQB1 GL alleles, or other genes on haplotypes (e.g., DR3) that carry these DQA1 alleles, may confer recessive low responsiveness to insulin [20].
  • These data suggest that genetic predisposition to the antitopo I response in PSS is associated most closely with the HLA-DQB1 locus [4].
  • Primary etiological components of IDDM1, the HLA-DQB1 and -DRB1 class II immune response genes, and of IDDM2, the minisatellite repeat sequence in the 5' regulatory region of the insulin gene on chromosome 11p15, have been identified [21].
  • We have scanned 12 Mb of the MHC and flanking chromosome regions with microsatellite polymorphisms and analyzed the transmission of these marker alleles to diabetic probands from parents who were homozygous for the alleles of the HLA-DRB1, HLA-DQA1, and HLA-DQB1 genes [22].
  • We investigated, in the founder population of Sardinia, whether non-DQ/DR polymorphic markers within a 9.452 Mb region encompassing the whole HLA complex further influence the disease risk, after taking into account linkage disequilibrium with the disease loci HLA-DQB1, -DQA1 and -DRB1 [23].

Anatomical context of HLA-DQB1


Associations of HLA-DQB1 with chemical compounds

  • A shared amino acid sequence in HLA-DQB1 (at position 26 of leucine and position 30 of tyrosine) was strongly associated with anti-P positivity (70%) versus anti-P negativity (42%) across ethnic lines [29].
  • HLA-DQB1 alleles and absence of Asp 57 as susceptibility factors of IDDM in Finland [30].
  • It has been suggested that protection from disease may be conferred by HLA-DQB1 genes which encode molecules with aspartate at position 57 [31].
  • CONCLUSIONS: Latex-fruit allergy is associated with HLA-DQB1 *0201, DRB1 *0301, and *0901, as well as with HLA-DR functional group E, whereas latex-not-fruit allergy is associated with DQB1 *0202, and with both DRB1 *0701 and *1101 alleles [32].
  • The presence of at least one HLA-DQB1 allele not coding for leucine at position 26 of the first domain appeared necessary, although not sufficient for the generation of ACA [33].

Regulatory relationships of HLA-DQB1

  • All DR1-positive patients and controls carried the DQA1*0101 and DQB1*0501 alleles [34].
  • METHODS: Sixty-nine IDDM patients and 47 healthy controls in a Southern Chinese population were HLA-DQB1 genotyped by one-step sequence specific polymerase chain reaction (ssPCR) [35].
  • These data suggest that in addition to alleles at the DRB1 and DQB1 loci, polymorphism at the DPB1 locus may also influence IDDM risk [36].
  • We typed 285 IDDM patients and 337 HLA-DRB1-DQA1-DQB1 genotypically matched control subjects from an ethnically homogeneous population for both the G/T polymorphism in intron 6 of the LMP7 gene and the Arg-His polymorphism in the LMP2 gene [37].
  • Thirty-one Ethiopian insulin-dependent (or type I) diabetes mellitus (IDDM) patients and thirty-three healthy controls from the same ethnic background were typed for HLA-A, B, C, DR and DQ specificities [38].

Other interactions of HLA-DQB1

  • MHC haplotypes were defined by analyzing polymorphic markers for 11 genes or their products between the HLA-DQB1 and the HLA-A genes [39].
  • These data provide new limits for IDDM susceptibility to the 190-kb interval between TAP1 and HLA-DQB1 [40].
  • RESULTS: DQ3 (DQBI*03 and *04 combined with DQA1*03) and DQ5 (DQB1*0501/DQA1*0101) alleles predisposed individuals to RA independently of SE-positive DRB1 alleles [41].
  • Analysis of TAP gene polymorphisms will provide better understanding of susceptibility loci in HLA class II-associated disease because TAP genes are located between HLA-DQB1 and HLA-DPB1 loci [42].
  • CONCLUSION: The data show genetic evidence suggesting that, in Colombians, a region immersed or in the vicinity in the HLA class II system is strongly associated with a predisposition to acquire pSS, which is probably located between the TAP2 and HLA-DQB1 locus [43].

Analytical, diagnostic and therapeutic context of HLA-DQB1

  • HLA-DQB1 polymorphism determines incidence, onset, and severity of collagen-induced arthritis in transgenic mice. Implications in human rheumatoid arthritis [44].
  • HLA-DRB1, HLA-DQB1, and TCRBV gene polymorphisms were studied in Thai individuals with SAE (n = 18), with vaccination without neurological complications (n = 43), and without vaccination (n = 140) [45].
  • DNA was extracted from blood samples and studied by Southern blot hybridisation techniques and the following probe enzyme combinations: HLA-DQB1; Taq 1, HLA-DQA1; Taq 1, HLA-DRA; Bgl II, insulin gene hypervariable region; Pvu II and the switch region of the immunoglobulin IgM heavy chain gene (S mu); Sac I [46].
  • RESULTS: HLA-DQB1 *0201 allele was found to be the primary genetic determinant of susceptibility to type 2 AIH by conferring the highest odd-ratio (OR=6.4) [47].
  • To define the limit of c-ALL susceptibility within the HLA region, we have compared HLA-DQB1 allele frequencies in a cohort of 62 children with c-ALL with 76 newborn controls, using group-specific polymerase chain reaction (PCR) amplification, and single-strand conformation polymorphism (SSCP) analysis [48].


  1. A predominant role for the HLA class II region in the association of the MHC region with multiple sclerosis. Lincoln, M.R., Montpetit, A., Cader, M.Z., Saarela, J., Dyment, D.A., Tiislar, M., Ferretti, V., Tienari, P.J., Sadovnick, A.D., Peltonen, L., Ebers, G.C., Hudson, T.J. Nat. Genet. (2005) [Pubmed]
  2. HLA-DQB1-defined genetic susceptibility, beta cell autoimmunity, and metabolic characteristics in familial and nonfamilial insulin-dependent diabetes mellitus. Childhood Diabetes in Finland (DiMe) Study Group. Veijola, R., Reijonen, H., Vähäsalo, P., Sabbah, E., Kulmala, P., Ilonen, J., Akerblom, H.K., Knip, M. J. Clin. Invest. (1996) [Pubmed]
  3. Association of polar amino acids at position 26 of the HLA-DQB1 first domain with the anticentromere autoantibody response in systemic sclerosis (scleroderma). Reveille, J.D., Owerbach, D., Goldstein, R., Moreda, R., Isern, R.A., Arnett, F.C. J. Clin. Invest. (1992) [Pubmed]
  4. Association of amino acid sequences in the HLA-DQB1 first domain with antitopoisomerase I autoantibody response in scleroderma (progressive systemic sclerosis). Reveille, J.D., Durban, E., MacLeod-St Clair, M.J., Goldstein, R., Moreda, R., Altman, R.D., Arnett, F.C. J. Clin. Invest. (1992) [Pubmed]
  5. A common major histocompatibility complex class II allele HLA-DQB1* 0301 is present in clinical variants of pemphigoid. Delgado, J.C., Turbay, D., Yunis, E.J., Yunis, J.J., Morton, E.D., Bhol, K., Norman, R., Alper, C.A., Good, R.A., Ahmed, R. Proc. Natl. Acad. Sci. U.S.A. (1996) [Pubmed]
  6. HLA and genetic susceptibility to sleepwalking. Lecendreux, M., Bassetti, C., Dauvilliers, Y., Mayer, G., Neidhart, E., Tafti, M. Mol. Psychiatry (2003) [Pubmed]
  7. Cow's milk consumption, HLA-DQB1 genotype, and type 1 diabetes: a nested case-control study of siblings of children with diabetes. Childhood diabetes in Finland study group. Virtanen, S.M., Läärä, E., Hyppönen, E., Reijonen, H., Räsänen, L., Aro, A., Knip, M., Ilonen, J., Akerblom, H.K. Diabetes (2000) [Pubmed]
  8. Thyroid-related autoantibodies and celiac disease: a role for a gluten-free diet? Mainardi, E., Montanelli, A., Dotti, M., Nano, R., Moscato, G. J. Clin. Gastroenterol. (2002) [Pubmed]
  9. Quetiapine in the successful treatment of psychosis and comorbid brittle diabetes mellitus: a case report. Balter, J., Mofsen, R., Pinninti, N. International journal of psychiatry in medicine. (2004) [Pubmed]
  10. Rheumatoid arthritis in a patient with Asperger's syndrome and IDDM. Laiho, K., Meckelburg, K. Clin. Rheumatol. (2003) [Pubmed]
  11. Cblb is a major susceptibility gene for rat type 1 diabetes mellitus. Yokoi, N., Komeda, K., Wang, H.Y., Yano, H., Kitada, K., Saitoh, Y., Seino, Y., Yasuda, K., Serikawa, T., Seino, S. Nat. Genet. (2002) [Pubmed]
  12. A male-female bias in type 1 diabetes and linkage to chromosome Xp in MHC HLA-DR3-positive patients. Cucca, F., Goy, J.V., Kawaguchi, Y., Esposito, L., Merriman, M.E., Wilson, A.J., Cordell, H.J., Bain, S.C., Todd, J.A. Nat. Genet. (1998) [Pubmed]
  13. A search for type 1 diabetes susceptibility genes in families from the United Kingdom. Mein, C.A., Esposito, L., Dunn, M.G., Johnson, G.C., Timms, A.E., Goy, J.V., Smith, A.N., Sebag-Montefiore, L., Merriman, M.E., Wilson, A.J., Pritchard, L.E., Cucca, F., Barnett, A.H., Bain, S.C., Todd, J.A. Nat. Genet. (1998) [Pubmed]
  14. The prevalence of occult gastrointestinal bleeding in celiac sprue. Fine, K.D. N. Engl. J. Med. (1996) [Pubmed]
  15. Genetic analysis of HLA class II alleles and susceptibility to type 1 (insulin-dependent) diabetes mellitus in Japanese subjects. Awata, T., Kuzuya, T., Matsuda, A., Iwamoto, Y., Kanazawa, Y. Diabetologia (1992) [Pubmed]
  16. HLA-DQ8 and the HLA-DQ8-DR4 haplotype are positively associated with the hevein-specific IgE immune response in health care workers with latex allergy. Rihs, H.P., Chen, Z., Ruëff, F., Cremer, R., Raulf-Heimsoth, M., Baur, X., Moneret-Vautrin, D.A., Brüning, T. J. Allergy Clin. Immunol. (2002) [Pubmed]
  17. HLA-DQB1 and DRB1 alleles in Egyptian children with steroid-sensitive nephrotic syndrome. Bakr, A.M., El-Chenawy, F. Pediatr. Nephrol. (1998) [Pubmed]
  18. Tumor necrosis factor, tumor necrosis factor receptors type 1 and 2, lymphotoxin-alpha, and HLA-DRB1 gene polymorphisms in human T-cell lymphotropic virus type I associated myelopathy. Nishimura, M., Maeda, M., Matsuoka, M., Mine, H., Saji, H., Matsui, M., Kuroda, Y., Kawakami, H., Uchiyama, T. Hum. Immunol. (2000) [Pubmed]
  19. CTLA4 alanine-17 confers genetic susceptibility to Graves' disease and to type 1 diabetes mellitus. Donner, H., Rau, H., Walfish, P.G., Braun, J., Siegmund, T., Finke, R., Herwig, J., Usadel, K.H., Badenhoop, K. J. Clin. Endocrinol. Metab. (1997) [Pubmed]
  20. Two subsets of HLA-DQA1 alleles mark phenotypic variation in levels of insulin autoantibodies in first degree relatives at risk for insulin-dependent diabetes. Pugliese, A., Bugawan, T., Moromisato, R., Awdeh, Z.L., Alper, C.A., Jackson, R.A., Erlich, H.A., Eisenbarth, G.S. J. Clin. Invest. (1994) [Pubmed]
  21. Genetic analysis of type 1 diabetes using whole genome approaches. Todd, J.A. Proc. Natl. Acad. Sci. U.S.A. (1995) [Pubmed]
  22. The predisposition to type 1 diabetes linked to the human leukocyte antigen complex includes at least one non-class II gene. Lie, B.A., Todd, J.A., Pociot, F., Nerup, J., Akselsen, H.E., Joner, G., Dahl-Jørgensen, K., Rønningen, K.S., Thorsby, E., Undlien, D.E. Am. J. Hum. Genet. (1999) [Pubmed]
  23. Conditional linkage disequilibrium analysis of a complex disease superlocus, IDDM1 in the HLA region, reveals the presence of independent modifying gene effects influencing the type 1 diabetes risk encoded by the major HLA-DQB1, -DRB1 disease loci. Zavattari, P., Lampis, R., Motzo, C., Loddo, M., Mulargia, A., Whalen, M., Maioli, M., Angius, E., Todd, J.A., Cucca, F. Hum. Mol. Genet. (2001) [Pubmed]
  24. HLA-C and HLA-DQB1 compatibility in unrelated cord blood transplants. Elia, L., Arcese, W., Torello, M., Iori, A.P., Guglielmi, C., Perrone, M.P., Screnci, M., Sprovieri, T., Rapanotti, M.C., Cimino, G. Haematologica (1999) [Pubmed]
  25. HLA-DRB1 alleles and HLA-DRB1 shared epitopes are markers for juvenile rheumatoid arthritis subgroups in Colombian mestizos. Garavito, G., Yunis, E.J., Egea, E., Ramirez, L.A., Malagón, C., Iglesias, A., De La Cruz, O.F., Uribe, O., Navarro, E., Martinez, P., Jaraquemada, D. Hum. Immunol. (2004) [Pubmed]
  26. High yields of anti-HLA human monoclonal antibodies can be provided by SCID mice. Pistillo, M.P., Sguerso, V., Ferrara, G.B. Hum. Immunol. (1992) [Pubmed]
  27. HLA-DQA1 and HLA-DQB1 haplotypes in aborted fetuses and couples with recurrent spontaneous abortion. Steck, T., van der Ven, K., Kwak, J., Beer, A., Ober, C. J. Reprod. Immunol. (1995) [Pubmed]
  28. Identification of HLA-DRB1 and HLA-DQB1 identical individuals by a cytokine-based mixed lymphocyte culture. Danzer, S.G., A Campo, C., Kunze, B., Kirchner, H., Rink, L. Lymphokine Cytokine Res. (1994) [Pubmed]
  29. Ribosomal P autoantibodies in systemic lupus erythematosus. Frequencies in different ethnic groups and clinical and immunogenetic associations. Arnett, F.C., Reveille, J.D., Moutsopoulos, H.M., Georgescu, L., Elkon, K.B. Arthritis Rheum. (1996) [Pubmed]
  30. HLA-DQB1 alleles and absence of Asp 57 as susceptibility factors of IDDM in Finland. Reijonen, H., Ilonen, J., Knip, M., Akerblom, H.K. Diabetes (1991) [Pubmed]
  31. Both DQA1 and DQB1 genes are implicated in HLA-associated protection from type 1 (insulin-dependent) diabetes mellitus in a British Caucasian population. Cavan, D.A., Jacobs, K.H., Penny, M.A., Kelly, M.A., Mijovic, C., Jenkins, D., Fletcher, J.A., Barnett, A.H. Diabetologia (1993) [Pubmed]
  32. Genetic basis of the latex-fruit syndrome: association with HLA class II alleles in a Spanish population. Blanco, C., Sánchez-García, F., Torres-Galván, M.J., Dumpierrez, A.G., Almeida, L., Figueroa, J., Ortega, N., Castillo, R., Gallego, M.D., Carrillo, T. J. Allergy Clin. Immunol. (2004) [Pubmed]
  33. Anti-centromere antibodies (ACA) in systemic sclerosis patients and their relatives: a serological and HLA study. McHugh, N.J., Whyte, J., Artlett, C., Briggs, D.C., Stephens, C.O., Olsen, N.J., Gusseva, N.G., Maddison, P.J., Black, C.M., Welsh, K. Clin. Exp. Immunol. (1994) [Pubmed]
  34. Multiple basal cell carcinomas: no association with HLA-DRB, HLA-DQA1 or HLA-DQB1 in Swedish patients. Emtestam, L., Wallberg, P., Aldener, A., Olerup, O. Br. J. Dermatol. (1996) [Pubmed]
  35. Contribution of the absence of aspartic acid at position 57 of the HLA-DQ beta chain to predisposition to insulin-dependent diabetes mellitus in a southern Chinese population. Zhang, S., Cheng, H., Fu, Z., Zhong, G., Yan, T. Chin. Med. J. (1998) [Pubmed]
  36. Association of HLA-DPB1*0301 with IDDM in Mexican-Americans. Erlich, H.A., Rotter, J.I., Chang, J.D., Shaw, S.J., Raffel, L.J., Klitz, W., Bugawan, T.L., Zeidler, A. Diabetes (1996) [Pubmed]
  37. No independent associations of LMP2 and LMP7 polymorphisms with susceptibility to develop IDDM. Undlien, D.E., Akselsen, H.E., Joner, G., Dahl-Jørgensen, K., Søvik, O., Rønningen, K.S., Thorsby, E. Diabetes (1997) [Pubmed]
  38. HLA-DR and DQ antigens in insulin-dependent diabetics in Ethiopia. Ottenhoff, T.H., Mengistu, M., Tadesse, G., De Vries, R.R., Converse, P.J. Tissue Antigens (1987) [Pubmed]
  39. Major histocompatibility complex class III genes and susceptibility to immunoglobulin A deficiency and common variable immunodeficiency. Volanakis, J.E., Zhu, Z.B., Schaffer, F.M., Macon, K.J., Palermos, J., Barger, B.O., Go, R., Campbell, R.D., Schroeder, H.W., Cooper, M.D. J. Clin. Invest. (1992) [Pubmed]
  40. TAP1 alleles in insulin-dependent diabetes mellitus: a newly defined centromeric boundary of disease susceptibility. Jackson, D.G., Capra, J.D. Proc. Natl. Acad. Sci. U.S.A. (1993) [Pubmed]
  41. Rheumatoid arthritis in southern Spain: toward elucidation of a unifying role of the HLA class II region in disease predisposition. Pascual, M., Nieto, A., López-Nevot, M.A., Ramal, L., Matarán, L., Caballero, A., Alonso, A., Martín, J., Zanelli, E. Arthritis Rheum. (2001) [Pubmed]
  42. Lack of primary association between transporter associated with antigen processing genes and atopic dermatitis. Kuwata, S., Yanagisawa, M., Saeki, H., Nakagawa, H., Etoh, T., Tokunaga, K., Juji, T., Shibata, Y. J. Allergy Clin. Immunol. (1995) [Pubmed]
  43. TAP, HLA-DQB1, and HLA-DRB1 polymorphism in Colombian patients with primary Sjögren's syndrome. Anaya, J.M., Correa, P.A., Mantilla, R.D., Arcos-Burgos, M. Semin. Arthritis Rheum. (2002) [Pubmed]
  44. HLA-DQB1 polymorphism determines incidence, onset, and severity of collagen-induced arthritis in transgenic mice. Implications in human rheumatoid arthritis. Bradley, D.S., Nabozny, G.H., Cheng, S., Zhou, P., Griffiths, M.M., Luthra, H.S., David, C.S. J. Clin. Invest. (1997) [Pubmed]
  45. Association of HLA and T-cell receptor gene polymorphisms with Semple rabies vaccine-induced autoimmune encephalomyelitis. Piyasirisilp, S., Schmeckpeper, B.J., Chandanayingyong, D., Hemachudha, T., Griffin, D.E. Ann. Neurol. (1999) [Pubmed]
  46. A genetic study of retinopathy in south Indian type 2 (non-insulin-dependent) diabetic patients. Hawrami, K., Mohan, R., Mohan, V., Hitman, G.A. Diabetologia (1991) [Pubmed]
  47. HLA Class II influences humoral autoimmunity in patients with type 2 autoimmune hepatitis. Djilali-Saiah, I., Fakhfakh, A., Louafi, H., Caillat-Zucman, S., Debray, D., Alvarez, F. J. Hepatol. (2006) [Pubmed]
  48. Molecular analysis of HLA-DQB1 alleles in childhood common acute lymphoblastic leukaemia. Dearden, S.P., Taylor, G.M., Gokhale, D.A., Robinson, M.D., Thompson, W., Ollier, W., Binchy, A., Birch, J.M., Stevens, R.F., Carr, T., Bardsley, W.G. Br. J. Cancer (1996) [Pubmed]
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