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general/hla-dr-haplotypes

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HLA-DR1

Serotype of cell surface receptors

HLA-DR1

Serotype of cell surface receptors

HLA-DR1 (DR1) is a HLA-DR serotype that recognizes the DRB1*01 gene products. It has been observed to be common among centenarians.

Serology

The serology for the most common DR1 alleles is excellent. The serology for alleles , , , , , , and is unknown.

Disease associations

By serotype

DR1 is associated with seronegative-rheumatoid arthritis, penicillamine-induced myasthenia, and schizophrenia. DR1 is increased in patients with systemic sclerosis and arthritis and in ulcerative colitis with patients that have articular manifestations.

By allele

DRB1*01:01 is associated with rheumatoid arthritis, in anti-Jk(a) mediated hemolytic transfusion reactions, foliaceous pemphigus, HTLV-1-associated myelopathy/tropical spastic paraparesis, and lichen planus. In lyme disease arthritis, *01:01 appears to play a role in presentation of triggering microbial antigens.

DRB1*01:02 is associated with rheumatoid arthritis, in anti-Jk(a) mediated hemolytic transfusion reactions, psoriasis vulgaris, and recurrent respiratory papillomatosis

DRB1*01:03 is associated with colonic Crohn's disease and ulcerative colitis.

By genotype

*DRB1*01:01/0404 and **01:01/0401 increases risk of mortality in rheumatoid arthritis, with ischemic heart disease and smoking. these same genotypes are associated with rheumatoid vasculitis.

ligand (Staphylococcal enterotoxin 1-C peptide:pkyvkqntlklat) within the binding pocket of DR αβ<sup>101</sup>

By haplotype

DRB101:02:DQB105:01 is associated with psoriasis vulgaris and tubulointerstitial nephritis & uveitis syndrome, but is relatively protective against juvenile diabetes.

DR1-DQ5 is associated with tubulointerstitial nephritis & uveitis syndrome.

Rheumatoid arthritis

There frequency of DR4-DQ8 haplotypes reach extreme nodal levels. Arthritis has been identified in a pre-Columbian remains from Italy, the affected individual bearing the DRB101:01 allele. DRB101:01 and most DR4 have in common a 'shared epitope'. In this hypothesis a common region of the beta chain, positions 67 to 74, are common and may be integral to presenting auto-immunological peptides.

Genetic linkage

DRADRB1DQA1DQB1DRB1SerotypesHLA-AHLA CHLA BDRB1
Serotypes
DR1*01:01*01:01
*01:01*01:02
*01:01*01:03
Serotypes
DR1-DQ5 (5.1, 1)*01:01*05:01*01:01
*01:01*05:01*01:02
*01:01*05:01*01:03
A3-Cw4-B35-DR1*03:01*04:01*35:01*01:01
A11-Cw4-B35-DR1*11:01*04:01*35:01*01:03
A33-Cw8-B14-DR1*33:01*08:02*14:02*01:02

HLA-DR1 is not genetically linked to DR51, DR52 or DR53, but is linked to HLA-DQ1 and DQ5 serotypes.

References

References

  1. (2006). "Crystal structure of staphylococcal enterotoxin I (SEI) in complex with a human major histocompatibility complex class II molecule". J. Biol. Chem..
  2. "The genetics of exceptional human longevity".
  3. (2006). "Siblings of Okinawan Centenarians Share Lifelong Mortality Advantages". The Journals of Gerontology Series A: Biological Sciences and Medical Sciences.
  4. Garoyan, Georges. (1990). "Cent-quatorze ans de vie ou la longue histoire de Jeanne Calment, doyenné d'âge de France [One Hundred and Fourteen Years of Life or the Long History of Jeanne Calment, the Eldest of France]". Université d'Aix-Marseille II.
  5. [http://www.ebi.ac.uk/imgt/hla/allele.html derived from IMGT/HLA]
  6. (1985). "HLA antigens and seronegative rheumatoid arthritis". Ann Rheum Dis.
  7. (1982). "Association of HLA-Aw31 and HLA-DR1 with adult rheumatoid arthritis". Ann Rheum Dis.
  8. (1986). "HLA-DR antigens in rheumatoid arthritis. A Swiss collaborative study; final report. Swiss Federal Commission for the Rheumatic Diseases, Subcommission for Research". Rheumatol Int.
  9. (1983). "Penicillamine-induced myasthenia in rheumatoid arthritis: its clinical and genetic features". Ann Rheum Dis.
  10. (2000). "Human leukocyte antigen and season of birth in Japanese patients with schizophrenia". Am J Psychiatry.
  11. Szücs G. (2007). "Systemic sclerosis-rheumatoid arthritis overlap syndrome: a unique combination of features suggests a distinct genetic, serological and clinical entity". Rheumatology.
  12. Núñez C. (2006). "Genetic markers linked to rheumatoid arthritis are also strongly associated with articular manifestations in ulcerative colitis patients". Hum. Immunol..
  13. Kapitány A. (2005). "Association of rheumatoid arthritis with HLA-DR1 and HLA-DR4 in Hungary". Ann. N. Y. Acad. Sci..
  14. Reviron D. (2005). "HLA-DRB1 alleles and Jk(a) immunization". Transfusion.
  15. (2005). "HLA-DRB1*0101 is associated with foliaceous pemphigus in Mexicans". Int J Dermatol.
  16. (2005). "Differences in viral and host genetic risk factors for development of human T-cell lymphotropic virus type 1 (HTLV-1)-associated myelopathy/tropical spastic paraparesis between Iranian and Japanese HTLV-1-infected individuals". J Gen Virol.
  17. Luis-Montoya P. (2007). "HLA-DRB1*0101 is associated with the genetic susceptibility to develop lichen planus in the Mexican Mestizo population". Archives of Dermatological Research.
  18. Steere AC. (2006). "Antibiotic-refractory Lyme arthritis is associated with HLA-DR molecules that bind a Borrelia burgdorferi peptide". J. Exp. Med..
  19. (2005). "Association between psoriasis vulgaris and MHC-DRB, -DQB genes as a contribution to disease diagnosis". Eur J Dermatol.
  20. (2004). "HLA alleles, IFN-gamma responses to HPV-11 E6, and disease severity in patients with recurrent respiratory papillomatosis". Hum Immunol.
  21. (2004). "IBD1 and IBD3 determine location of Crohn's disease in the Spanish population". Inflamm Bowel Dis.
  22. (2003). "The incidence of HLA DRB1*0103 in ulcerative colitis patients in north-eastern Poland". Hepatogastroenterology.
  23. (1997). "Genetic markers may predict disease behavior in patients with ulcerative colitis". Gastroenterology.
  24. Mattey DL. (2007). "Association of DRB1 shared epitope genotypes with early mortality in rheumatoid arthritis: results of eighteen years of followup from the early rheumatoid arthritis study". Arthritis Rheum..
  25. (2004). "Particular HLA-DRB1 shared epitope genotypes are strongly associated with rheumatoid vasculitis". Arthritis Rheum..
  26. (2003). "Strong associations between specific HLA-DQ and HLA-DR alleles and the tubulointerstitial nephritis and uveitis syndrome". Invest Ophthalmol Vis Sci.
  27. Thomson G. (2007). "Relative predispositional effects of HLA class II DRB1-DQB1 haplotypes and genotypes on type 1 diabetes: a meta-analysis". Tissue Antigens.
  28. Fontecchio G. (2007). "Genetic predisposition to rheumatoid arthritis in a Tuscan (Italy) ancient human remain". International Journal of Immunopathology and Pharmacology.
  29. (1987). "The shared epitope hypothesis. An approach to understanding the molecular genetics of susceptibility to rheumatoid arthritis". Arthritis Rheum..
  30. (1988). "A new look at the shared epitope hypothesis". Am. J. Med..
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