HLA-DR17

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
EBI-HLA DRA*0101
Identifiers
beta 1 *0301 *0304
Symbol(s) HLA-DRB1
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.

Serology

DR17 and DR3 recognition of some DRB1*03 alleles[1]
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

  1. derived from IMGT/HLA
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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. PMID 16584643.
  8. 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.
  9. 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.
  10. 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.
  11. 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.
  12. 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.
  13. 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.
  14. 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): 19724. doi:10.1155/MI/2006/19724. PMC 1618952. PMID 17047287.
  15. 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.
  16. Machens A, Löliger C, Pichlmeier U, Emskötter T, Busch C, Izbicki J (1999). "Correlation of thymic pathology with HLA in myasthenia gravis". Clin Immunol 91 (3): 296–301. doi:10.1006/clim.1999.4710. PMID 10370374.
  17. 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.
  18. 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.
  19. 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.
  20. 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.
This article is issued from Wikipedia - version of the Tuesday, September 01, 2015. The text is available under the Creative Commons Attribution/Share Alike but additional terms may apply for the media files.