HLA-DR17
From Wikipedia, the free encyclopedia
 | |
major histocompatibility complex, class II, DR17 | |
| Haplotypes groups | DRA*01:DRB1*0301 DRA*01:DRB1*0304 |
| Structure (See HLA-DR) | |
| Identifiers | alpha *0101 |
| Symbol(s) | HLA-DRA[permanent dead link] |
| EBI-HLA | DRA*0101 |
| Identifiers | beta 1 *0301 *0304 |
| Symbol(s) | HLA-DRB1[permanent dead link] |
| EBI-HLA | DRB1*0301 |
| EBI-HLA | DRB1*0304 |
| Shared data | |
| Locus | chr.6 6p21.31 |
HLA-DR17 (DR17) is an HLA-DR serotype that recognizes the DRB1*0301 and *0304 gene products. DR17 is found at high frequency in Western Europe (such as Western Ireland, N. Spain, Sardinia). DR17 is part of the broader antigen group HLA-DR3 and is very similar to the group HLA-DR18.
| DRB1* | DR17 | DR3 | DR18 | Sample |
| allele | % | % | % | size (N) |
| 0301 | 64 | 33 | 0 | 9698 |
| 0304 | 20 | 60 | 5 | |
DR17 recognizes the DRB1*0301, *0304 alleles.
Disease associations
By serotype
DR17 is associated with non-chronic sarcoidosis,[2][3] infantile spasm/epilepsy,[4] rabies vaccine-induced autoimmune encephalomyelitis[5] and cardiovascular hypertrophy in subjects with arterial hypertension[6] People with DR17 show a tendency toward benzylpenicilloyl allergies.[7]
By allele
DRB1*0301: diabetes mellitus type 1,[8] myositis,[9] early onset Graves disease,[10] type 1 autoimmune hepatitis,[11] inflammatory inclusion body myositis.[12] In autoimmune hepatitis, DRB1*0301 correlates with more severe and difficult to treat disease.[13]
By haplotype
DRB1*0301:DQA1*05:DQB1*0201 is associated with diabetes mellitus type 1,[14] ovarian cancer,[15] non-thymomic myasthenia gravis,[16] idiopathic inflammatory myopathies,[17] non-cancer associated Lambert-Eaton myasthenic syndrome[18] and sarcoidosis [19]
By phenotype
The DRB1*0301/DRB1*1501 heterozygote is linked to primary Sjögren's syndrome[20]
Genetic Linkage
DR17 Haplotypes | ||||
| Serotypes | DRA | DRB1 | DRB3 | |
|---|---|---|---|---|
| DR17 | *0101 | *0301 | 0101 | |
| *0101 | *0301 | 0201 | ||
| Serotypes | DQA1 | DQB1 | DRB1 | |
| DR17(3)-DQ2(2.5) | *0501 | *0201 | *0301 | |
| Serotypes | HLA-A | HLA C | HLA B | DRB1 |
| A1-Cw7-B8-DR17(3) | *0101 | *0701 | *0801 | *0301 |
| A2-Cw7-B8-DR17(3) | *0201 | *0701 | *0801 | *0301 |
| A30-Cw5-B18-DR17(3) | *3002 | *0501 | *1801 | *0301 |
HLA-DR17 is genetically linked to DR52 and HLA-DQ2 serotypes. These serotypes are the result of gene products from the HLA-DRB3* and HLA DQA1*0501 and HLA DQB1*0201 alleles. DRB1*0301 is frequently within by the "Super-B8" or ancestral HLA haplotype:
A*0101 : Cw*0701 : B*0801 : DRB1*0301 : DQA1*0501 : DQB1*0201
This haplotype is known as "Super B8", "European ancestral haplotype", or "AH8.1"
References
- ↑ derived from IMGT/HLA
- ↑ Berlin M, Fogdell-Hahn A, Olerup O, Eklund A, Grunewald J (1997). "HLA-DR predicts the prognosis in Scandinavian patients with pulmonary sarcoidosis". Am J Respir Crit Care Med. 156 (5): 1601–5. doi:10.1164/ajrccm.156.5.9704069. PMID 9372682.
- ↑ Planck A, Katchar K, Eklund A, Gripenbäck S, Grunewald J (2003). "T-lymphocyte activity in HLA-DR17 positive patients with active and clinically recovered sarcoidosis". Sarcoidosis Vasc Diffuse Lung Dis. 20 (2): 110–7. PMID 12870720.
- ↑ Suastegui R, De La Rosa G, Carranza J, Gonzalez-Astiazaran A, Gorodezky C (2001). "Contribution of the MHC class II antigens to the etiology of infantile spasm in Mexican Mestizos". Epilepsia. 42 (2): 210–5. doi:10.1046/j.1528-1157.2001.22700.x. PMID 11240591.
- ↑ Piyasirisilp S, Schmeckpeper B, Chandanayingyong D, Hemachudha T, Griffin D (1999). "Association of HLA and T-cell receptor gene polymorphisms with Semple rabies vaccine-induced autoimmune encephalomyelitis". Ann Neurol. 45 (5): 595–600. doi:10.1002/1531-8249(199905)45:5<595::AID-ANA7>3.0.CO;2-M. PMID 10319881. S2CID 28870098.
- ↑ Diamantopoulos E, Andreadis E, Vassilopoulos C, Vlachonikolis I, Tarassi K, Chatzis N, Giannakopoulos N, Papasteriades C (2001). "Association of specific HLA phenotypes with left ventricular mass and carotid intima-media thickness in hypertensives". Am J Hypertens. 14 (7 Pt 1): 632–6. doi:10.1016/S0895-7061(01)01283-3. PMID 11465646.
- ↑ Yang J, Qiao HL, Zhang YW, Jia LJ, Tian X, Gao N (2006). "HLA-DRB genotype and specific IgE responses in patients with allergies to penicillins". Chin. Med. J. 119 (6): 458–66. doi:10.1097/00029330-200603020-00005. PMID 16584643.
- ↑ Shawkatova I, Michalkova D, Barak L, Fazekasova H, Kuba D, Buc M (2006). "HLA class II allele frequencies in type 1A diabetes mellitus Slovak patients". Bratisl Lek Listy. 107 (3): 76–9. PMID 16796128.
- ↑ O'Hanlon T, Carrick D, Targoff I, Arnett F, Reveille J, Carrington M, Gao X, Oddis C, Morel P, Malley J, Malley K, Shamim E, Rider L, Chanock S, Foster C, Bunch T, Blackshear P, Plotz P, Love L, Miller F (2006). "Immunogenetic risk and protective factors for the idiopathic inflammatory myopathies: distinct HLA-A, -B, -Cw, -DRB1, and -DQA1 allelic profiles distinguish European American patients with different myositis autoantibodies". Medicine (Baltimore). 85 (2): 111–27. doi:10.1097/01.md.0000217525.82287.eb. PMID 16609350. S2CID 25224623.
- ↑ Lavard L, Madsen H, Perrild H, Jacobsen B, Svejgaard A (1997). "HLA class II associations in juvenile Graves' disease: indication of a strong protective role of the DRB1*0701,DQA1*0201 haplotype". Tissue Antigens. 50 (6): 639–41. doi:10.1111/j.1399-0039.1997.tb02922.x. PMID 9458117.
- ↑ Czaja A, Strettell M, Thomson L, Santrach P, Moore S, Donaldson P, Williams R (1997). "Associations between alleles of the major histocompatibility complex and type 1 autoimmune hepatitis". Hepatology. 25 (2): 317–23. doi:10.1002/hep.510250211. PMID 9021941. S2CID 42248704.
- ↑ Sivakumar K, Semino-Mora C, Dalakas M (1997). "An inflammatory, familial, inclusion body myositis with autoimmune features and a phenotype identical to sporadic inclusion body myositis. Studies in three families". Brain. 120 (4): 653–61. doi:10.1093/brain/120.4.653. PMID 9153127.
- ↑ Montano Loza AJ, Czaja AJ (2007). "Current therapy for autoimmune hepatitis". Nature Clinical Practice Gastroenterology & Hepatology. 4 (4): 202–14. doi:10.1038/ncpgasthep0768. PMID 17404588. S2CID 24280843.
- ↑ Deja G, Jarosz-Chobot P, Polańska J, Siekiera U, Małecka-Tendera E (2006). "Is the Association Between TNF-α-308 A Allele and DMT1 Independent of HLA-DRB1, DQB1 Alleles?". Mediators Inflamm. 2006 (4): 1–7. doi:10.1155/MI/2006/19724. PMC 1618952. PMID 17047287.
- ↑ Kübler K, Arndt P, Wardelmann E, Krebs D, Kuhn W, van der Ven K (2006). "HLA-class II haplotype associations with ovarian cancer". Int J Cancer. 119 (12): 2980–5. doi:10.1002/ijc.22266. PMID 17016821.
- ↑ Machens A, Löliger C, Pichlmeier U, Emskötter T, Busch C, Izbicki J (1999). "Correlation of thymic pathology with HLA in myasthenia gravis". Clinical Immunology. 91 (3): 296–301. doi:10.1006/clim.1999.4710. PMID 10370374.
- ↑ Shamim E, Rider L, Miller F (2000). "Update on the genetics of the idiopathic inflammatory myopathies". Curr Opin Rheumatol. 12 (6): 482–91. doi:10.1097/00002281-200011000-00002. PMID 11092196.
- ↑ Parsons K, Kwok W, Gaur L, Nepom G (2000). "Increased frequency of HLA class II alleles DRB1*0301 and DQB1*0201 in Lambert-Eaton myasthenic syndrome without associated cancer". Hum Immunol. 61 (8): 828–33. doi:10.1016/S0198-8859(00)00135-X. PMID 10980394.
- ↑ Grubić R, Žunec T, Peroš-Golubičić J, et al. (2007). "HLA class I and class II frequencies in patients with sarcoidosis from Croatia: role of HLA-B8, −DRB1*0301, and −DQB1*0201 haplotype in clinical variations of the disease". Tissue Antigens. 70 (4): 301–6. doi:10.1111/j.1399-0039.2007.00904.x. PMID 17767551.
- ↑ Jean S, Quelvennec E, Alizadeh M, Guggenbuhl P, Birebent B, Perdriger A, Grosbois B, Pawlotsky P, Semana G (1998). "DRB1*15 and DRB1*03 extended haplotype interaction in primary Sjögren's syndrome genetic susceptibility". Clin Exp Rheumatol. 16 (6): 725–8. PMID 9844767.