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Gene Review

HLA-DRB1  -  major histocompatibility complex, class II...

Homo sapiens

Synonyms: DRB1, DRw10, HLA-DR1B, HLA-DRB, SS1
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Disease relevance of HLA-DRB1


Psychiatry related information on HLA-DRB1

  • We investigated a Japanese narcolepsy family, in which a de novo chromosomal recombination occurred between the HLA-DRB1 and HLA-B genes in the proband [7].
  • The distribution of HLA-DRB1 and -DQB1 alleles and presence or absence of DRB3/4/5 alleles were examined in 60 narcoleptic patients with clear-cut cataplexy, and the results were compared with two groups of healthy controls: 200 randomly selected controls and 144 DRB1*1501-DQB1*0602 positive controls [8].
  • The allele frequency of the HLA-DRB1 gene was compared between groups of 48 clinically diagnosed elderly Alzheimer's disease (AD) cases and 44 pathologically confirmed elderly control cases [9].

High impact information on HLA-DRB1


Chemical compound and disease context of HLA-DRB1

  • TNF a, b and c microsatellite and HLA-DRB1 typings were carried out in 165 (79 COMBI; 86 SINGLE) study completers.RESULTS:At baseline the 28 joint disease activity scores (DAS28) of the patients positive for TNFa2, a13 or b1 microsatellite markers were significantly higher than in the other patients [15].
  • The influence of glutamic acid (E)-alanine (A) dimorphism at position 74 of the DR4 beta chain on cytotoxic T cell recognition of an antigenic rubella virus peptide, E1(273-284), was studied using a panel of B cell lines and B cell transfectants expressing different HLA-DRB1 alleles as antigen-presenting cells and targets in 51Cr-release assays [16].
  • Genetic variants at DRB1 (Dw subtypes), DQB, and C4 loci were compared in rheumatoid disease subjects with or without the extra-articular feature of Felty's syndrome or major vasculitis [17].
  • More rapid myeloid engraftment was associated with marrow serologically matched at HLA-A and HLA-B, DRB1 match, higher cell dose (in non-T-cell-depleted cases), younger recipient, recipient seronegativity for cytomegalovirus (CMV), male donor, no methotrexate for graft-versus-host disease prophylaxis, and transplantation done in more recent years [18].
  • METHODS: The distribution of HLA-DQB1 and DRB1, DRB3, DRB4, and DRB5 in 269 HCWs with latex allergy, 56 latex-sensitized patients with spina bifida (SB), and 90 nonatopic control subjects under special consideration for hevein-specific IgE was examined [19].

Biological context of HLA-DRB1


Anatomical context of HLA-DRB1


Associations of HLA-DRB1 with chemical compounds

  • To elucidate the origin of these duplicated loci and allelic divergences at the most polymorphic DRB1 locus, introns 4 and 5 as well as the 3' untranslated region (altogether approximately 1,000 base pairs) of seven HLA-DRB loci, three HLA-DRB1 alleles, and nine nonhuman primate DRB genes were examined [30].
  • The DRB1 gene is polymorphic at residue 86, encoding valine or glycine [31].
  • Molecular cloning and sequencing confirmed that the new DRB1 allele is identical to DRB1*0101 at exon 2 except for a single nucleotide substitution at codon 37 (TauCC-->TauAlphaC), changing the encoded serine to tyrosine [32].
  • The absence of aspartic acid (Asp) at position 57 of the DRB1 chain and the presence of arginine (Arg) at position 52 of the DQA1 chain correlated positively with both types of IDDM [33].
  • Also, DRB1 alleles that are negatively associated with MS all encode a Gly at position 86, suggesting that the residue at position 86 may be critical in conferring susceptibility and protection to MS [34].

Enzymatic interactions of HLA-DRB1

  • Transplant center guidelines for typing of patient, family and to confirm the HLA types of potential unrelated donors should include, at the minimum, typing HLA-A, B, and -DR loci using primarily DNA-based testing methods at allele level resolution for DRB1 and low resolution/split antigen level for HLA-A and -B [35].

Regulatory relationships of HLA-DRB1

  • The highly polymorphic HLA-DRB1 locus is always expressed at a higher level than the HLA-DRB3 locus, and functional assays indicate that the proximal promoter of DRB1 is indeed more active than that of DRB3 [36].
  • Analyses also suggested that shared epitope DRB1 genotype significantly influenced the occurrence of seropositive RA [37].
  • We analyzed the genotype for HLA-DRB1 alleles by digestion of polymerase chain reaction-amplified genes with the restriction endonucleases (PCR-RFLP) method to investigate the influence of HLA-DR antigen "splits" at the DRB1 gene level on the incidence of acute graft rejection in the renal transplant [38].
  • HLA-DRB1 alleles may influence the age of symptom onset of ankylosing spondylitis [39].

Other interactions of HLA-DRB1

  • 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 [40].
  • Peptide-specific cytokine responses and HLA-DRB1 allele associations revealed that, for the MV-P peptide, the allele with the strongest association with both IFN-gamma (P = 0.02) and IL-4 (P = 0.03) secretion was DRB1*0301 [41].
  • These results indicated that both of HLA-DRB1 and TNFA promoter polymorphisms contribute to the susceptibility to CD in an independent manner [3].
  • The increase in DMB*0101 allele and homozygote genotype frequencies was independent of a linkage disequilibrium between DMB and DRB1 alleles [42].
  • With allele-specific probes, 22 DRB1, 8 DQA1, 13 DQB1, and 12 DPB1 alleles were found in this panel [43].

Analytical, diagnostic and therapeutic context of HLA-DRB1

  • CONCLUSIONS: HLA-DRB1 gene is the major genetic determinant in HLA class II region for children with type 1 AIH [24].
  • In this report we describe a new HLA-DRB1 allele, DRB1*1353, which was initially recognized by a discrepancy between the results obtained with polymerase chain reaction using sequence-specific oligonucleotide (PCR-SSO) and sequence-specific primers (PCR-SSP) [44].
  • To determine the correlation between HLA class II polymorphisms and these lymphomas, we applied DNA typing for HLA-DRB1 and HLA-DQB1 on 50 Dutch patients with testicular and 48 with nodal DLBCL and compared the frequencies with a cohort of healthy Dutch controls [45].
  • A frequency of particular HLA-DRB1 alleles in patients was compared with that of a control group of 700 unrelated ethnically matched individuals as well as 193 age-matched women without endometriosis [46].
  • Significant association between HLA-DRB1 and attention deficit hyperactivity disorder (ADHD) in a case-control study of 31 subjects has been reported but there have been no other published studies following up these results [47].


  1. Atopy, respiratory function and HLA-DR in Aboriginal Australians. Moffatt, M.F., Faux, J.A., Lester, S., Paré, P., McCluskey, J., Spargo, R., James, A., Musk, A.W., Cookson, W.O. Hum. Mol. Genet. (2003) [Pubmed]
  2. Prevalence of HLA-DRB1 genotype and altered Fas/Fas ligand expression in adrenocortical carcinoma. Wolkersdörfer, G.W., Marx, C., Brown, J., Schröder, S., Füssel, M., Rieber, E.P., Kuhlisch, E., Ehninger, G., Bornstein, S.R. J. Clin. Endocrinol. Metab. (2005) [Pubmed]
  3. Independent contribution of HLA-DRB1 and TNF alpha promoter polymorphisms to the susceptibility to Crohn's disease. Kawasaki, A., Tsuchiya, N., Hagiwara, K., Takazoe, M., Tokunaga, K. Genes Immun. (2000) [Pubmed]
  4. Maternal - offspring HLA-DRB1 compatibility in multiple sclerosis. Willer, C.J., Dyment, D.A., Sadovnick, A.D., Ebers, G.C. Tissue Antigens (2005) [Pubmed]
  5. No association between HLA-DRB1 alleles and susceptibility to advanced stage endometriosis in a Korean population. Whang, D.H., Kim, S.H., Choi, Y.M., Park, M.H., Noh, J.H., Kim, Y.B. Hum. Reprod. (2006) [Pubmed]
  6. Association of DRB1 shared epitope genotypes with early mortality in rheumatoid arthritis: results of eighteen years of followup from the early rheumatoid arthritis study. Mattey, D.L., Thomson, W., Ollier, W.E., Batley, M., Davies, P.G., Gough, A.K., Devlin, J., Prouse, P., James, D.W., Williams, P.L., Dixey, J., Winfield, J., Cox, N.L., Koduri, G., Young, A. Arthritis Rheum. (2007) [Pubmed]
  7. Identification of a telomeric boundary of the HLA region with potential for predisposition to human narcolepsy. Miyagawa, T., Hohjoh, H., Honda, Y., Juji, T., Tokunaga, K. Immunogenetics (2000) [Pubmed]
  8. Association of HLA-DR and -DQ Genes with Narcolepsy in Koreans Comparison with Two Control Groups, Randomly Selected Subjects and DRB1*1501-DQB1*0602-Positive Subjects. Roh, E.Y., Park, M.H., Park, H., Park, D.H., Choi, J.B., Kim, S.J., Jeong, D.U. Hum. Immunol. (2006) [Pubmed]
  9. Risk for Alzheimer's disease in older late-onset cases is associated with HLA-DRB1*03. Neill, D., Curran, M.D., Middleton, D., Mawhinney, H., Edwardson, J.A., McKeith, I., Ballard, C., Morris, C., Ince, P., Jaros, E., Perry, R. Neurosci. Lett. (1999) [Pubmed]
  10. Effect of matching of class I HLA alleles on clinical outcome after transplantation of hematopoietic stem cells from an unrelated donor. Japan Marrow Donor Program. Sasazuki, T., Juji, T., Morishima, Y., Kinukawa, N., Kashiwabara, H., Inoko, H., Yoshida, T., Kimura, A., Akaza, T., Kamikawaji, N., Kodera, Y., Takaku, F. N. Engl. J. Med. (1998) [Pubmed]
  11. Bone marrow transplants from unrelated donors for patients with chronic myeloid leukemia. Hansen, J.A., Gooley, T.A., Martin, P.J., Appelbaum, F., Chauncey, T.R., Clift, R.A., Petersdorf, E.W., Radich, J., Sanders, J.E., Storb, R.F., Sullivan, K.M., Anasetti, C. N. Engl. J. Med. (1998) [Pubmed]
  12. Maternal-fetal disparity in HLA class II alloantigens and the pregnancy-induced amelioration of rheumatoid arthritis. Nelson, J.L., Hughes, K.A., Smith, A.G., Nisperos, B.B., Branchaud, A.M., Hansen, J.A. N. Engl. J. Med. (1993) [Pubmed]
  13. Evidence for linkage disequilibrium between HLA-DRB1 gene and multiple sclerosis. The French Research Group on Genetic Susceptibility to MS. Yaouanq, J., Semana, G., Eichenbaum, S., Quelvennec, E., Roth, M.P., Clanet, M., Edan, G., Clerget-Darpoux, F. Science (1997) [Pubmed]
  14. The myth of Eve: molecular biology and human origins. Ayala, F.J. Science (1995) [Pubmed]
  15. Association of tumour necrosis factor a, b and c microsatellite polymorphisms with clinical disease activity and induction of remission in early rheumatoid arthritis. Laivoranta-Nyman, S., M??tt??nen, T., Hannonen, P., Korpela, M., Kautiainen, H., Leirisalo-Repo, M., Julkunen, H., Luukkainen, R., Hakala, M., Vuori, K., Laine, A.P., Toivanen, A., Ilonen, J. Clin. Exp. Rheumatol. (2006) [Pubmed]
  16. Characterization of the HLA-restrictive elements of a rubella virus-specific cytotoxic T cell clone: influence of HLA-DR4 beta chain residue 74 polymorphism on antigenic peptide-T cell interaction. Ou, D., Mitchell, L.A., Domeier, M.E., Tsang, A.O., Décarie, D., Tingle, A.J., Nepom, G.T., Lacroix, M., Zrein, M. Int. Immunol. (1996) [Pubmed]
  17. Immunogenetic heterogeneity in rheumatoid disease as illustrated by different MHC associations (DQ, Dw and C4) in articular and extra-articular subsets. Hillarby, M.C., Clarkson, R., Grennan, D.M., Bate, A.S., Ollier, W., Sanders, P.A., Chattophadhyay, C., Davis, M., O'Sullivan, M.M., Williams, B. Br. J. Rheumatol. (1991) [Pubmed]
  18. Engraftment and survival after unrelated-donor bone marrow transplantation: a report from the national marrow donor program. Davies, S.M., Kollman, C., Anasetti, C., Antin, J.H., Gajewski, J., Casper, J.T., Nademanee, A., Noreen, H., King, R., Confer, D., Kernan, N.A. Blood (2000) [Pubmed]
  19. 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]
  20. A genome-wide screen for susceptibility loci in ankylosing spondylitis. Brown, M.A., Pile, K.D., Kennedy, L.G., Campbell, D., Andrew, L., March, R., Shatford, J.L., Weeks, D.E., Calin, A., Wordsworth, B.P. Arthritis Rheum. (1998) [Pubmed]
  21. Linkage analysis of rheumatoid arthritis in US and UK families reveals interactions between HLA-DRB1 and loci on chromosomes 6q and 16p. John, S., Amos, C., Shephard, N., Chen, W., Butterworth, A., Etzel, C., Jawaheer, D., Seldin, M., Silman, A., Gregersen, P., Worthington, J. Arthritis Rheum. (2006) [Pubmed]
  22. The human major histocompatibility complex class II HLA-DRB1 and HLA-DQA1 genes are separated by a CTCF-binding enhancer-blocking element. Majumder, P., Gomez, J.A., Boss, J.M. J. Biol. Chem. (2006) [Pubmed]
  23. High serum IgE concentrations: association with HLA-DR and markers on chromosome 5q31 and chromosome 11q13. Ulbrecht, M., Eisenhut, T., Bönisch, J., Kruse, R., Wjst, M., Heinrich, J., Wichmann, H.E., Weiss, E.H., Albert, E.D. J. Allergy Clin. Immunol. (1997) [Pubmed]
  24. Linkage disequilibrium between HLA class II region and autoimmune hepatitis in pediatric patients. Djilali-Saiah, I., Renous, R., Caillat-Zucman, S., Debray, D., Alvarez, F. J. Hepatol. (2004) [Pubmed]
  25. Importance of HLA-DQ and HLA-DP polymorphisms in cytokine responses to naturally processed HLA-DR-derived measles virus peptides. Ovsyannikova, I.G., Vierkant, R.A., Poland, G.A. Vaccine (2006) [Pubmed]
  26. Studies on the human leukocyte antigen-DR in patients with endometriosis: genotyping of HLA-DRB1 alleles. Ishii, K., Takakuwa, K., Mitsui, T., Tanaka, K. Hum. Reprod. (2002) [Pubmed]
  27. Description of a new HLA-DRB1 allele, DRB1*1150. Crespiatico, L., Frison, S., Andreini, E., Ferrioli, G., Rossi, U., Poli, F. Tissue Antigens (2004) [Pubmed]
  28. Identification of sequence errors in HLA-DRB1*0801 and HLA-DRB1*12011. Greville, W.D., Dunckley, H. Tissue Antigens (2002) [Pubmed]
  29. T-cell epitope mapping of ORF2 and ORF3 proteins of human hepatitis E virus. Aggarwal, R., Shukla, R., Jameel, S., Agrawal, S., Puri, P., Gupta, V.K., Patil, A.P., Naik, S. J. Viral Hepat. (2007) [Pubmed]
  30. Evolutionary relationship of HLA-DRB genes inferred from intron sequences. Satta, Y., Mayer, W.E., Klein, J. J. Mol. Evol. (1996) [Pubmed]
  31. The DRB1 Val86/Val86 genotype associates with multiple sclerosis in Australian patients. Teutsch, S.M., Bennetts, B.H., Buhler, M.M., Heard, R.N., Stewart, G.J. Hum. Immunol. (1999) [Pubmed]
  32. Identification of a novel HLA-DRB1 allele, DRB1*0108, by sequence-based DRB typing in two siblings. Martinez-Gallo, M., Martinez-Lostao, L., Martinez-Carretero, M.A., Gago, I., Maroto, P., Rodriguez-Sanchez, J.L., de la Calle-Martin, O. Tissue Antigens (2002) [Pubmed]
  33. Analysis of MHC class II antigens in Japanese IDDM by a novel HLA-typing method, hybridization protection assay. Maruyama, T., Shimada, A., Kasuga, A., Kasatani, T., Ozawa, Y., Ishii, M., Takei, I., Suzuki, Y., Kobayashi, A., Takeda, S. Diabetes Res. Clin. Pract. (1994) [Pubmed]
  34. Association of susceptibility to multiple sclerosis in Sweden with HLA class II DRB1 and DQB1 alleles. Allen, M., Sandberg-Wollheim, M., Sjögren, K., Erlich, H.A., Petterson, U., Gyllensten, U. Hum. Immunol. (1994) [Pubmed]
  35. A special report: histocompatibility testing guidelines for hematopoietic stem cell transplantation using volunteer donors. Quality Assurance and Donor Registries Working Groups of the World Marrow Donor Association. Hurley, C.K., Wade, J.A., Oudshoorn, M., Middleton, D., Kukuruga, D., Navarrete, C., Christiansen, F., Hegland, J., Ren, E.C., Andersen, I., Cleaver, S.A., Brautbar, C., Raffoux, C. Hum. Immunol. (1999) [Pubmed]
  36. The different level of expression of HLA-DRB1 and -DRB3 genes is controlled by conserved isotypic differences in promoter sequence. Emery, P., Mach, B., Reith, W. Hum. Immunol. (1993) [Pubmed]
  37. HLA-DRB1 genotype influences risk for and severity of rheumatoid arthritis. Meyer, J.M., Evans, T.I., Small, R.E., Redford, T.W., Han, J., Singh, R., Moxley, G. J. Rheumatol. (1999) [Pubmed]
  38. The significance of HLA-DRB1 matching in clinical renal transplantation. Kobayashi, T., Yokoyama, I., Uchida, K., Tominaga, Y., Inoko, H., Tsuji, K., Takagi, H. Transplantation (1992) [Pubmed]
  39. Finnish HLA studies confirm the increased risk conferred by HLA-B27 homozygosity in ankylosing spondylitis. Jaakkola, E., Herzberg, I., Laiho, K., Barnardo, M.C., Pointon, J.J., Kauppi, M., Kaarela, K., Tuomilehto-Wolf, E., Tuomilehto, J., Wordsworth, B.P., Brown, M.A. Ann. Rheum. Dis. (2006) [Pubmed]
  40. 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]
  41. Identification and characterization of novel, naturally processed measles virus class II HLA-DRB1 peptides. Ovsyannikova, I.G., Johnson, K.L., Muddiman, D.C., Vierkant, R.A., Poland, G.A. J. Virol. (2004) [Pubmed]
  42. Positive association of the HLA DMB1*0101-0101 genotype with rheumatoid arthritis. Perdriger, A., Guggenbuhl, P., Chalès, G., Yaouanq, J., Quelvennec, E., Bonnard, M.N., Pawlotsky, Y., Semana, G. Rheumatology (Oxford, England) (1999) [Pubmed]
  43. DNA typing for HLA-DR, and -DP alleles in a Chinese population using the polymerase chain reaction (PCR) and oligonucleotide probes. Gao, X.J., Sun, Y.P., An, J.B., Fernandez-Viña, M., Qou, J.N., Lin, L., Stastny, P. Tissue Antigens (1991) [Pubmed]
  44. Identification of a novel HLA-DRB1 allele: DRB1*1353. Longhi, E., Frison, S., Poli, F., Gaboardi, D., Ferrioli, G., Scalamogna, M. Tissue Antigens (2003) [Pubmed]
  45. The relationship between HLA class II polymorphisms and somatic deletions in testicular B cell lymphomas of Dutch patients. Riemersma, S.A., Jordanova, E.S., Haasnoot, G.W., Drabbels, J., Schuuring, E., Schreuder, G.M., Kluin, P.M. Hum. Immunol. (2006) [Pubmed]
  46. Susceptibility to ovarian endometriosis in Polish population is not associated with HLA-DRB1 alleles. Roszkowski, P.I., Sankowska, M., Jalbrzykowska, A., Radomski, D., Dragowska, K., Ploski, R., Malejczyk, J. Hum. Reprod. (2005) [Pubmed]
  47. No evidence of association between HLA-DRB1 and attention deficit hyperactivity disorder. Payton, A., Turic, D., Langley, K., Mills, S., Lawson, D.C., Van den Bree, M., Owen, M.J., O'Donovan, M.C., Ollier, W., Worthington, J., Thapar, A. Psychiatr. Genet. (2003) [Pubmed]
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