Biology:HLA-DR17

From HandWiki
Illustration of an HLA-DR (Human MHC class II) antigen receptor with bound antigen
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[yes|permanent dead link|dead link}}]
EBI-HLA DRA*0101
Identifiers
beta 1 *0301 *0304
Symbol(s) HLA-DRB1[yes|permanent dead link|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.

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. "HLA-DR predicts the prognosis in Scandinavian patients with pulmonary sarcoidosis.". Am J Respir Crit Care Med 156 (5): 1601–5. 1997. doi:10.1164/ajrccm.156.5.9704069. PMID 9372682. 
  3. "T-lymphocyte activity in HLA-DR17 positive patients with active and clinically recovered sarcoidosis.". Sarcoidosis Vasc Diffuse Lung Dis 20 (2): 110–7. 2003. PMID 12870720. 
  4. "Contribution of the MHC class II antigens to the etiology of infantile spasm in Mexican Mestizos.". Epilepsia 42 (2): 210–5. 2001. doi:10.1046/j.1528-1157.2001.22700.x. PMID 11240591. 
  5. "Association of HLA and T-cell receptor gene polymorphisms with Semple rabies vaccine-induced autoimmune encephalomyelitis.". Ann Neurol 45 (5): 595–600. 1999. doi:10.1002/1531-8249(199905)45:5<595::AID-ANA7>3.0.CO;2-M. PMID 10319881. 
  6. "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. 2001. doi:10.1016/S0895-7061(01)01283-3. PMID 11465646. 
  7. "HLA-DRB genotype and specific IgE responses in patients with allergies to penicillins". Chin. Med. J. 119 (6): 458–66. 2006. doi:10.1097/00029330-200603020-00005. PMID 16584643. 
  8. "HLA class II allele frequencies in type 1A diabetes mellitus Slovak patients.". Bratisl Lek Listy 107 (3): 76–9. 2006. PMID 16796128. 
  9. "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. 2006. doi:10.1097/01.md.0000217525.82287.eb. PMID 16609350. https://zenodo.org/record/1234859. 
  10. "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. 1997. doi:10.1111/j.1399-0039.1997.tb02922.x. PMID 9458117. 
  11. "Associations between alleles of the major histocompatibility complex and type 1 autoimmune hepatitis.". Hepatology 25 (2): 317–23. 1997. doi:10.1002/hep.510250211. PMID 9021941. 
  12. "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. 1997. doi:10.1093/brain/120.4.653. PMID 9153127. 
  13. "Current therapy for autoimmune hepatitis". Nature Clinical Practice Gastroenterology & Hepatology 4 (4): 202–14. 2007. doi:10.1038/ncpgasthep0768. PMID 17404588. 
  14. "Is the Association Between TNF-α-308 A Allele and DMT1 Independent of HLA-DRB1, DQB1 Alleles?". Mediators Inflamm 2006 (4): 1–7. 2006. doi:10.1155/MI/2006/19724. PMID 17047287. 
  15. "HLA-class II haplotype associations with ovarian cancer". Int J Cancer 119 (12): 2980–5. 2006. doi:10.1002/ijc.22266. PMID 17016821. 
  16. "Correlation of thymic pathology with HLA in myasthenia gravis". Clinical Immunology 91 (3): 296–301. 1999. doi:10.1006/clim.1999.4710. PMID 10370374. 
  17. "Update on the genetics of the idiopathic inflammatory myopathies". Curr Opin Rheumatol 12 (6): 482–91. 2000. doi:10.1097/00002281-200011000-00002. PMID 11092196. https://zenodo.org/record/1234776. 
  18. "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. 2000. doi:10.1016/S0198-8859(00)00135-X. PMID 10980394. 
  19. "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. 2007. doi:10.1111/j.1399-0039.2007.00904.x. PMID 17767551. 
  20. "DRB1*15 and DRB1*03 extended haplotype interaction in primary Sjögren's syndrome genetic susceptibility". Clin Exp Rheumatol 16 (6): 725–8. 1998. PMID 9844767.