HLA-DR1
| ||
| 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[permanent dead link] | |
| EBI-HLA | DRA *01:01 | |
| Identifiers | beta 1 *01:01, *01:02, *01:03 . . . | |
| Symbol(s) | HLA-DRB1[permanent 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
| DRB1* | DR1 | DR103 | Sample | |
| allele | % | % | % | size (N) |
| *01:01 | 97% | 6317 | ||
| *01:02 | 95% | 2035 | ||
| *01:03 | 56% | 12% | 1186 | |
| *01:05 | >50% | 2 |
The serology for the most common DR1 alleles is excellent. The serology for alleles *01:04, *01:06, *01:09, *01:10, *0112, *0115, and *0116 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]
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]
| Class | Disease | Associated DR | 2 | 3 | 4 |
|---|---|---|---|---|---|
| alopecia areata | DR5 | ||||
| anemia | pernicious | DR15 | |||
| antiphospholipid syndrome, primary | DR5 | DR12 | |||
| aneurysm | coronary artery | DR16 | |||
| arteritis | Takayasu's | DR16 | |||
| arthritis, rheumatoid | juvenile | DR4 | DR5 | DR14 | DR15 |
| pauciarticular, juv. | DR8 | ||||
| Still's disease | DR12 | ||||
| iritis w/juv. arthritis | DR12 | ||||
| seropositive | DR1 | DR4 | DR10 | ||
| w/systemic sclerosis | DR1 | ||||
| lyme disease induced | DR4 | ||||
| tiopronin intolerance | DR5 | DR11 | DR12 | ||
| cardiomyopathy | hypertrophic | DR4 | DR17 | ||
| T. cruzi induced | DR4 | DR7 | DR15 | ||
| colitis | Crohn's | DR1 | |||
| ulcerative | DR1 | ||||
| diabetes | juvenile (type 1) | DR3 | DR4 | DR17 | DR18 |
| fatty liver (type 2) | DR8 | ||||
| encephalomyelitis | rabies vaccine-induced | DR17 | |||
| encephalopathy | acute necrotizing | DR52 | |||
| epilepsy | childhood | DR5 | |||
| infantile/spasm | DR17 | ||||
| heart disease | rheumatic | DR16 | |||
| hepatitis | autoimmune | DR2 | DR4 | DR17 | |
| primary biliary cirrhosis | DR2 | DR8 | |||
| chronic type C | DR11 | ||||
| lichen planus | DR1 | DR10 | |||
| lupus, | systemic | DR3 | DR4 | DR52 | |
| hydralazine-induced | DR4 | ||||
| with Sjögren syndrome | DR15 | ||||
| lymphadenopathy | generalized | DR5 | |||
| lymphoma, | mycosis fungoides | DR5 | |||
| melioidosis | DR16 | ||||
| myasthenia | gravis | DR3 | DR6 | DR13 | DR14 |
| penicillamine-induced | DR1 | ||||
| myositis | inflammatory inclusion body | DR17 | DR18 | DR52 | |
| narcolepsy | DR2 | DR12 | |||
| nephritis, | tubulointerstitial | DR1 | |||
| nephropathy | IgA-mediated | DR4 | |||
| polyglandular deficiency syndrome | DR5 | ||||
| pemphigus | foliaceous | DR1 | |||
| vulgaris | DR4 | ||||
| psoriasis | vulgaris | DR1 | DR7 | ||
| papillomatosis, | respiratory | DR1 | |||
| sarcoidosis | non-chronic | DR17 | DR52 | ||
| sclerosis, | multiple | DR2 | DR15 | DR53 | |
| "bout onset" multiple | DR3 | ||||
| systemic | DR4 | DR11 | DR16 | DR52 | |
| vulval lichen | DR12 | ||||
| schizophrenia | DR1 | ||||
| susceptibility | leprosy | DR2 | |||
| tuberculosis | DR2 | ||||
| ragweed Ra6 allergy | DR5 | ||||
| asthma, mite sensitive | DR11 | ||||
| 2ndary infection, AIDS | DR3 | ||||
| aspergillosis | DR15 | ||||
| Kaposi's sarcoma | DR5 | ||||
| thyroid carcinomas | DR8 | DR11 | |||
| ovarian/cervical cancer | DR10 | DR11 | DR15 | ||
| grape induced anaphylaxis | DR11 | ||||
| Chlamydia pneumoniae | DR52 | ||||
| thyroiditis | Hashimoto's | DR3 | DR5 | ||
| Graves' | DR3 | DR17 | DR52 | ||
| uveitis | tubulointerstitial | DR1 | |||
| *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.[clarification needed] 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
- ^ 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.
- ^ "The genetics of exceptional human longevity".
- ^ 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.
- ^ 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.
- ^ derived from IMGT/HLA
- ^ 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.
- ^ 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.
- ^ "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. S2CID 189901283.
- ^ 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.
- ^ 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.
- ^ 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.
- ^ 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.
- ^ a b 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. Bibcode:2005NYASA1051..263K. doi:10.1196/annals.1361.067. PMID 16126967. S2CID 6515443.
- ^ a b 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. S2CID 20473677.
- ^ 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. doi:10.1111/j.1365-4632.2005.02038.x. PMID 15811100. S2CID 21880556.
- ^ 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.
- ^ 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. S2CID 5986703.
- ^ 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.
- ^ a b 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.
- ^ 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.
- ^ 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. S2CID 23790673.
- ^ 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.
- ^ 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.
- ^ 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.
- ^ 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.
- ^ a b 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.
- ^ 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.
- ^ 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. S2CID 2067413.
- ^ 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.
- ^ 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.