HLA-DR1

DR1 binding pocket with ligand PDB: 2G9H​ [1]
major histocompatibility complex, class II, DR1
Haplotypes groups DRA*01:DRB1*0101 DRA*01:DRB1*0102 DRA*01:DRB1*0103
Structure (See HLA-DR)
Identifiers
alpha *0101
Symbol(s) HLA-DRA
EBI-HLA DRA *0101
Identifiers
beta 1 *0101, *0102, *0103 . . .
Symbol(s) HLA-DRB1
Shared data
Locus chr.6 6p21.31

HLA-DR1 (DR1) is a HLA-DR serotype that recognizes the DRB1*01 gene products.

Serology

DR1 serotype recognition of Some DRB1*01 allele-group gene products[2]
DRB1*DR1 DR103Sample
allele%%%size (N)
*010197%6317
*010295%2035
*010356%12%1186
*0105>50%2

The serology for the most common DR1 alleles is excellent. The serology for alleles *0104, *0106, *0109, *0110, *0112, *0115, and *0116 is unknown.

Disease Associations

By serotype

DR1 is associated seronegative[3]-rheumatoid arthritis,[4][5] penicillamine-induced myasthenia,[6] and schizophrenia.[7] DR1 is increased in patients with systemic sclerosis and arthritis[8] and in ulcerative colitis with patients that have articular manifestations.[9]

By allele

DRB1*0101 is associated with rheumatoid arthritis,[10] in anti-Jk(a) mediated hemolytic transfusion reactions,[11] foliaceous pemphigus,[12] HTLV-1-associated myelopathy/tropical spastic paraparesis, and [13] lichen planus.[14] In lyme disease arthritis, *0101 appears to play a role in presentation of triggering microbial antigens.[15]

DRB1*0102 is associated with rheumatoid arthritis,[10] in anti-Jk(a) mediated hemolytic transfusion reactions,[11] psoriasis vulgaris,[16] and recurrent respiratory papillomatosis[17]

DRB1*0103 is associated with colonic Crohn's disease[18] and ulcerative colitis.[19][20]

By genotype

DRB1*0101/*0404 and *0101/*0401 increases risk of mortality in rheumatoid arthritis, with eschemic heart disease and smoking.[21] these same genotypes are associated with rheumatoid vasculitis.[22]

By haplotype

DRB1*0102:DQB1*0501 is associated with psoriasis vulgaris[16] and tubulointerstitial nephritis & uveitis syndrome,[23] but is relatively protective against juvenile diabetes.[24]

DR1-DQ5 is associate with tubulointerstitial nephritis & uveitis syndrome.[23]

Diseases associated with HLA-DR and links to DR subpages(V - T)
ClassDiseaseAssociated DR234
alopecia areataDR5
anemiaperniciousDR15
antiphospholipid syndrome, primaryDR5DR12
aneurysmcoronary arteryDR16
arteritisTakayasu'sDR16
arthritis, rheumatoidjuvenileDR4DR5DR14DR15
pauciarticular, juv.DR8
Still's diseaseDR12
iritis w/juv. arthritisDR12
seropositiveDR1DR4DR10
w/systemic sclerosisDR1
lyme disease inducedDR4
tiopronin intoleranceDR5DR11DR12
cardiomyopathyhypertrophicDR4DR17
T. cruzi inducedDR4DR7DR15
colitisCrohn'sDR1
ulcerativeDR1
diabetesjuvenile (type 1)DR3DR4DR17DR18
fatty liver (type 2)DR8
encephalomyelitisrabies vaccine-inducedDR17
encephalopathyacute necrotizingDR52
epilepsychildhoodDR5
infantile/spasmDR17
heart diseaserheumaticDR16
hepatitisautoimmuneDR2DR4DR17
primary biliary cirrhosisDR2DR8
chronic type CDR11
lichen planusDR1DR10
lupus,systemicDR3DR4DR52
hydralazine-inducedDR4
with Sjögren's syndromeDR15
lymphadenopathygeneralizedDR5
lymphoma,mycosis fungoidesDR5
melioidosisDR16
myastheniagravisDR3DR6DR13DR14
penicillamine-inducedDR1
myositisinflammatory inclusion bodyDR17DR18DR52
narcolepsyDR2DR12
nephritis,tubulointerstitialDR1
nephropathyIgA-mediatedDR4
polyglandular deficiency syndromeDR5
pemphigusfoliaceousDR1
vulgarisDR4
psoriasisvulgarisDR1DR7
papillomatosis,respiratoryDR1
sarcoidosisnon-chronicDR17DR52
sclerosis,multipleDR2DR15DR53
"bout onset" multipleDR3
systemicDR4DR11DR16DR52
vulval lichenDR12
schizophreniaDR1
susceptibilityleprosyDR2
tuberculosisDR2
ragweed Ra6 allergyDR5
asthma, mite sensitiveDR11
2ndary infection, AIDSDR3
aspergillosisDR15
Kaposi's sarcomaDR5
thyroid carcinomasDR8DR11
ovarian/cervical cancerDR10DR11DR15
grape induced anaphylaxisDR11
Chlamydia pneumoniaeDR52
thyroiditisHashimoto'sDR3DR5
Grave'sDR3DR17DR52
uveitistubulointerstitialDR1
*references are provided on linked subpages

Rheumatoid Arthritis

DR1 are associated with rheumatoid arthritis, and while not the strongest association with the highest risk for early onset arthritis is within the DR4 bearing Native American population. There frequency of DR4-DQ8 haplotypes reach extreme nodal levels. Arthritis has been identified in a precolumbian remains from Italy, the affected individual bearing the DRB1*0101 allele.[25] DRB1*0101 and most DR4 have in common a 'shared epitope'.[26][27] 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 DRADRB1
DR1 *0101*0101
*0101*0102
*0101*0103
Serotypes DQA1DQB1DRB1
DR1-DQ5 (5.1, 1) *0101*0501*0101
*0101*0501*0102
*0101*0501*0103
Serotypes HLA-AHLA CHLA BDRB1
A3-Cw4-B35-DR1*0301*0401*3501*0101
A11-Cw4-B35-DR1*1101*0401*3501*0103
A33-Cw8-B14-DR1*3301*0802*1402*0102

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

Longevity observations

The DR1 allele has been observed to be common among centenarians.[28][29][30]

References

  1. ↑ Fernández MM, Guan R, Swaminathan CP, Malchiodi EL, Mariuzza RA (2006). "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. doi:10.1074/jbc.M603969200. PMC 2730046. PMID 16829512.
  2. ↑ derived from IMGT/HLA
  3. ↑ Bardin T, Legrand L, Naveau B, Marcelli-Barge A, Debeyre N, Lathrop G, Poirier J, Schmid M, Ryckewaert A, Dryll A (1985). "HLA antigens and seronegative rheumatoid arthritis". Ann Rheum Dis. 44 (1): 50–53. doi:10.1136/ard.44.1.50. PMC 1001567. PMID 3855618.
  4. ↑ Schiff B, Mizrachi Y, Orgad S, Yaron M, Gazit E (1982). "Association of HLA-Aw31 and HLA-DR1 with adult rheumatoid arthritis". Ann Rheum Dis. 41 (4): 403–404. doi:10.1136/ard.41.4.403. PMC 1000958. PMID 6981387.
  5. ↑ "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.
  6. ↑ Delamere J, Jobson S, Mackintosh L, Wells L, Walton K (1983). "Penicillamine-induced myasthenia in rheumatoid arthritis: its clinical and genetic features". Ann Rheum Dis. 42 (5): 500–504. doi:10.1136/ard.42.5.500. PMC 1001283. PMID 6605118.
  7. ↑ Narita K, Sasaki T, Akaho R, Okazaki Y, Kusumi I, Kato T, Hashimoto O, Fukuda R, Koyama T, Matsuo K, Okabe Y, Nanko S, Hohjoh H, Tokunaga K (2000). "Human leukocyte antigen and season of birth in Japanese patients with schizophrenia". Am J Psychiatry. 157 (7): 1173–1175. doi:10.1176/appi.ajp.157.7.1173. PMID 10873932.
  8. ↑ 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 (Oxford, England). 46 (6): 989–993. doi:10.1093/rheumatology/kem021. PMID 17384178.
  9. ↑ 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.
  10. 1 2 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: 263–270. doi:10.1196/annals.1361.067. PMID 16126967.
  11. 1 2 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.
  12. ↑ del Mar Sáez-de-Ocariz M, Vega-Memije M, Zúñiga J, Salgado N, Ruíz J, Balbuena A, Domínguez-Soto L, Granados J (2005). "HLA-DRB1*0101 is associated with foliaceous pemphigus in Mexicans". Int J Dermatol. 44 (4): 350–350. doi:10.1111/j.1365-4632.2005.02038.x. PMID 15811100.
  13. ↑ Sabouri A, Saito M, Usuku K, Bajestan S, Mahmoudi M, Forughipour M, Sabouri Z, Abbaspour Z, Goharjoo M, Khayami E, Hasani A, Izumo S, Arimura K, Farid R, Osame M (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. 86 (Pt 3): 773–781. doi:10.1099/vir.0.80509-0. PMID 15722539.
  14. ↑ 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.
  15. ↑ 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. PMC 3212725. PMID 16585267.
  16. 1 2 Cardoso C, Uthida-Tanaka A, Magalhães R, Magna L, Kraemer M (2005). "Association between psoriasis vulgaris and MHC-DRB, -DQB genes as a contribution to disease diagnosis". Eur J Dermatol. 15 (3): 159–63. PMID 15908298.
  17. ↑ Bonagura V, Vambutas A, DeVoti J, Rosenthal D, Steinberg B, Abramson A, Shikowitz M, Gjertson D, Reed E (2004). "HLA alleles, IFN-gamma responses to HPV-11 E6, and disease severity in patients with recurrent respiratory papillomatosis". Hum Immunol. 65 (8): 773–782. doi:10.1016/j.humimm.2004.05.014. PMID 15336778.
  18. ↑ Fernandez L, Mendoza J, Martinez A, Urcelay E, Fernandez-Arquero M, Garcia-Paredes J, Peña A, Diaz-Rubio M, de la Concha E (2004). "IBD1 and IBD3 determine location of Crohn's disease in the Spanish population". Inflamm Bowel Dis. 10 (6): 715–722. doi:10.1097/00054725-200411000-00004. PMID 15626888.
  19. ↑ Puzanowska B, Prokopowicz D, Ziarko S, Radziwon P, Lapinski T (2003). "The incidence of HLA DRB1*0103 in ulcerative colitis patients in north-eastern Poland". Hepatogastroenterology. 50 (53): 1436–8. PMID 14571756.
  20. ↑ Roussomoustakaki M, Satsangi J, Welsh K, Louis E, Fanning G, Targan S, Landers C, Jewell D (1997). "Genetic markers may predict disease behavior in patients with ulcerative colitis". Gastroenterology. 112 (6): 1845–1853. doi:10.1053/gast.1997.v112.pm9178675. PMID 9178675.
  21. ↑ 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.
  22. ↑ Gorman JD, David-Vaudey E, Pai M, Lum RF, Criswell LA (2004). "Particular HLA-DRB1 shared epitope genotypes are strongly associated with rheumatoid vasculitis". Arthritis Rheum. 50 (11): 3476–3484. doi:10.1002/art.20588. PMID 15529352.
  23. 1 2 Levinson R, Park M, Rikkers S, Reed E, Smith J, Martin T, Rosenbaum J, Foster C, Sherman M, Holland G (2003). "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. doi:10.1167/iovs.02-0376. PMID 12556395.
  24. ↑ 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.
  25. ↑ 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. PMID 17346433.
  26. ↑ Gregersen PK, Silver J, Winchester RJ (1987). "The shared epitope hypothesis. An approach to understanding the molecular genetics of susceptibility to rheumatoid arthritis". Arthritis Rheum. 30 (11): 1205–1213. doi:10.1002/art.1780301102. PMID 2446635.
  27. ↑ Morel PA, Erlich HA, Fathman CG (1988). "A new look at the shared epitope hypothesis". Am. J. Med. 85 (6A): 20–22. doi:10.1016/0002-9343(88)90375-0. PMID 2462347.
  28. ↑ "The genetics of exceptional human longevity".
  29. ↑ "Siblings of Okinawan Centenarians Share Lifelong Mortality Advantages".
  30. ↑ 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.
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