Biology:HLA-DR1

From HandWiki
PDB rendering based on 1a6a.
DR1 binding pocket with ligand PDB: 2G9H​ [1]
major histocompatibility complex, class II, DR1
Haplotypes groups DRA*01:DRB1*01:01 DRA*01:DRB1*01:02 DRA*01:DRB1*01:03
Structure (See HLA-DR)
Identifiers
alpha *01:01
Symbol(s) HLA-DRA[yes|permanent dead link|dead link}}]
EBI-HLA DRA *01:01
Identifiers
beta 1 *01:01, *01:02, *01:03 . . .
Symbol(s) HLA-DRB1[yes|permanent dead link|dead link}}]
Shared data
Locus chr.6 6p21.31

HLA-DR1 (DR1) is a HLA-DR serotype that recognizes the DRB1*01 gene products. It has been observed to be common among centenarians.[2][3][4]

Serology

DR1 serotype recognition of Some DRB1*01 allele-group gene products[5]
DRB1* DR1 DR103 Sample
allele % % % size (N)
Template:HDR1A 97% 6317
Template:HDR1A 95% 2035
Template:HDR1A 56% 12% 1186
Template:HDR1A >50% 2

The serology for the most common DR1 alleles is excellent. The serology for alleles Template:HDR1A, Template:HDR1A, Template:HDR1A, Template:HDR1A, Template:HDR1A, Template:HDR1A, and Template:HDR1A is unknown.

Disease associations

By serotype

DR1 is associated with seronegative[6]-rheumatoid arthritis,[7][8] penicillamine-induced myasthenia,[9] and schizophrenia.[10] DR1 is increased in patients with systemic sclerosis and arthritis[11] and in ulcerative colitis with patients that have articular manifestations.[12]

By allele

DRB1*01:01 is associated with rheumatoid arthritis,[13] in anti-Jk(a) mediated hemolytic transfusion reactions,[14] foliaceous pemphigus,[15] HTLV-1-associated myelopathy/tropical spastic paraparesis, and [16] lichen planus.[17] In lyme disease arthritis, *01:01 appears to play a role in presentation of triggering microbial antigens.[18]

DRB1*01:02 is associated with rheumatoid arthritis,[13] in anti-Jk(a) mediated hemolytic transfusion reactions,[14] psoriasis vulgaris,[19] and recurrent respiratory papillomatosis[20]

DRB1*01:03 is associated with colonic Crohn's disease[21] and ulcerative colitis.[22][23]

By genotype

DRB1*01:01/*0404 and *01:01/*0401 increases risk of mortality in rheumatoid arthritis, with ischemic heart disease and smoking.[24] these same genotypes are associated with rheumatoid vasculitis.[25]

ligand (Staphylococcal enterotoxin 1-C peptide:pkyvkqntlklat) within the binding pocket of DR αβ101

By haplotype

DRB1*01:02:DQB1*05:01 is associated with psoriasis vulgaris[19] and tubulointerstitial nephritis & uveitis syndrome,[26] but is relatively protective against juvenile diabetes.[27]

DR1-DQ5 is associated with tubulointerstitial nephritis & uveitis syndrome.[26]


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 DRB1*01:01 allele.[28] DRB1*01:01 and most DR4 have in common a 'shared epitope'.[29][30] 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

DR1 Haplotypes
Serotypes DRA DRB1
DR1 *01:01 *01:01
*01:01 *01:02
*01:01 *01:03
Serotypes DQA1 DQB1 DRB1
DR1-DQ5 (5.1, 1) *01:01 *05:01 *01:01
*01:01 *05:01 *01:02
*01:01 *05:01 *01:03
Serotypes HLA-A HLA C HLA B DRB1
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

  1. ↑ "Crystal structure of staphylococcal enterotoxin I (SEI) in complex with a human major histocompatibility complex class II molecule". J. Biol. Chem. 281 (35): 25356–25364. 2006. doi:10.1074/jbc.M603969200. PMID 16829512. 
  2. ↑ "The genetics of exceptional human longevity". https://www.researchgate.net/publication/11175912. 
  3. ↑ Willcox, B. J.; Willcox, D. C.; He, Q.; Curb, J. D.; Suzuki, M. (2006). "Siblings of Okinawan Centenarians Share Lifelong Mortality Advantages". The Journals of Gerontology Series A: Biological Sciences and Medical Sciences 61 (4): 345–354. doi:10.1093/gerona/61.4.345. PMID 16611700. 
  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]. Marseille: Université d'Aix-Marseille II. pp. 22–42. 
  5. ↑ derived from IMGT/HLA
  6. ↑ "HLA antigens and seronegative rheumatoid arthritis". Ann Rheum Dis 44 (1): 50–53. 1985. doi:10.1136/ard.44.1.50. PMID 3855618. 
  7. ↑ "Association of HLA-Aw31 and HLA-DR1 with adult rheumatoid arthritis". Ann Rheum Dis 41 (4): 403–404. 1982. doi:10.1136/ard.41.4.403. PMID 6981387. 
  8. ↑ "HLA-DR antigens in rheumatoid arthritis. A Swiss collaborative study; final report. Swiss Federal Commission for the Rheumatic Diseases, Subcommission for Research". Rheumatol Int 6 (2): 89–92. 1986. doi:10.1007/bf00541511. PMID 3489975. 
  9. ↑ "Penicillamine-induced myasthenia in rheumatoid arthritis: its clinical and genetic features". Ann Rheum Dis 42 (5): 500–504. 1983. doi:10.1136/ard.42.5.500. PMID 6605118. 
  10. ↑ "Human leukocyte antigen and season of birth in Japanese patients with schizophrenia". Am J Psychiatry 157 (7): 1173–1175. 2000. doi:10.1176/appi.ajp.157.7.1173. PMID 10873932. 
  11. ↑ Szücs G; Szekanecz Z; Zilahi E et al. (2007). "Systemic sclerosis-rheumatoid arthritis overlap syndrome: a unique combination of features suggests a distinct genetic, serological and clinical entity". Rheumatology 46 (6): 989–993. doi:10.1093/rheumatology/kem021. PMID 17384178. 
  12. ↑ Núñez C; Alecsandru DM; Mendoza JL et al. (2006). "Genetic markers linked to rheumatoid arthritis are also strongly associated with articular manifestations in ulcerative colitis patients". Hum. Immunol. 67 (4–5): 324–330. doi:10.1016/j.humimm.2006.02.035. PMID 16720213. 
  13. ↑ 13.0 13.1 Kapitány A; Zilahi E; Szántó S et al. (2005). "Association of rheumatoid arthritis with HLA-DR1 and HLA-DR4 in Hungary". Ann. N. Y. Acad. Sci. 1051 (1): 263–270. doi:10.1196/annals.1361.067. PMID 16126967. Bibcode: 2005NYASA1051..263K. 
  14. ↑ 14.0 14.1 Reviron D; Dettori I; Ferrera V et al. (2005). "HLA-DRB1 alleles and Jk(a) immunization". Transfusion 45 (6): 956–959. doi:10.1111/j.1537-2995.2005.04366.x. PMID 15934994. 
  15. ↑ "HLA-DRB1*0101 is associated with foliaceous pemphigus in Mexicans". Int J Dermatol 44 (4): 350. 2005. doi:10.1111/j.1365-4632.2005.02038.x. PMID 15811100. 
  16. ↑ "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 86 (Pt 3): 773–781. 2005. doi:10.1099/vir.0.80509-0. PMID 15722539. 
  17. ↑ Luis-Montoya P; Yamamoto-Furusho JK; Vega-Memije E et al. (2007). "HLA-DRB1*0101 is associated with the genetic susceptibility to develop lichen planus in the Mexican Mestizo population". Archives of Dermatological Research 299 (8): 405–407. doi:10.1007/s00403-007-0769-2. PMID 17665209. 
  18. ↑ Steere AC; Klitz W; Drouin EE et al. (2006). "Antibiotic-refractory Lyme arthritis is associated with HLA-DR molecules that bind a Borrelia burgdorferi peptide". J. Exp. Med. 203 (4): 961–971. doi:10.1084/jem.20052471. PMID 16585267. 
  19. ↑ 19.0 19.1 "Association between psoriasis vulgaris and MHC-DRB, -DQB genes as a contribution to disease diagnosis". Eur J Dermatol 15 (3): 159–63. 2005. PMID 15908298. 
  20. ↑ "HLA alleles, IFN-gamma responses to HPV-11 E6, and disease severity in patients with recurrent respiratory papillomatosis". Hum Immunol 65 (8): 773–782. 2004. doi:10.1016/j.humimm.2004.05.014. PMID 15336778. 
  21. ↑ "IBD1 and IBD3 determine location of Crohn's disease in the Spanish population". Inflamm Bowel Dis 10 (6): 715–722. 2004. doi:10.1097/00054725-200411000-00004. PMID 15626888. 
  22. ↑ "The incidence of HLA DRB1*0103 in ulcerative colitis patients in north-eastern Poland". Hepatogastroenterology 50 (53): 1436–8. 2003. PMID 14571756. 
  23. ↑ "Genetic markers may predict disease behavior in patients with ulcerative colitis". Gastroenterology 112 (6): 1845–1853. 1997. doi:10.1053/gast.1997.v112.pm9178675. PMID 9178675. 
  24. ↑ Mattey DL; Thomson W; Ollier WE et al. (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. 56 (5): 1408–1416. doi:10.1002/art.22527. PMID 17469097. 
  25. ↑ "Particular HLA-DRB1 shared epitope genotypes are strongly associated with rheumatoid vasculitis". Arthritis Rheum. 50 (11): 3476–3484. 2004. doi:10.1002/art.20588. PMID 15529352. 
  26. ↑ 26.0 26.1 "Strong associations between specific HLA-DQ and HLA-DR alleles and the tubulointerstitial nephritis and uveitis syndrome". Invest Ophthalmol Vis Sci 44 (2): 653–657. 2003. doi:10.1167/iovs.02-0376. PMID 12556395. 
  27. ↑ Thomson G; Valdes AM; Noble JA et al. (2007). "Relative predispositional effects of HLA class II DRB1-DQB1 haplotypes and genotypes on type 1 diabetes: a meta-analysis". Tissue Antigens 70 (2): 110–127. doi:10.1111/j.1399-0039.2007.00867.x. PMID 17610416. 
  28. ↑ Fontecchio G; Fioroni MA; Azzarone R et al. (2007). "Genetic predisposition to rheumatoid arthritis in a Tuscan (Italy) ancient human remain". International Journal of Immunopathology and Pharmacology 20 (1): 103–9. doi:10.1177/039463200702000112. PMID 17346433. 
  29. ↑ "The shared epitope hypothesis. An approach to understanding the molecular genetics of susceptibility to rheumatoid arthritis". Arthritis Rheum. 30 (11): 1205–1213. 1987. doi:10.1002/art.1780301102. PMID 2446635. 
  30. ↑ "A new look at the shared epitope hypothesis". Am. J. Med. 85 (6A): 20–22. 1988. doi:10.1016/0002-9343(88)90375-0. PMID 2462347. 



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