HLA-B51

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HLA-B*5101 KM2.png
B*5101-β2M with bound peptide 1e28 ​
major histocompatibility complex (human), class I, B51
AllelesB*5101, 5102, 5103, . . .
Structure (See HLA-B)Available
3D structures
EBI-HLA B*5101 1e28 ​, 1e27 ​

HLA-B51 (B51) is an HLA-B serotype. The serotype identifies the more common HLA-B*51 gene products. [1]

Contents

B51 is a split antigen of the broad antigen B5, and is a sister serotype of B52. [2] There are many alleles within the B*51 allele group. B51 is associated with several diseases, including Behçet's disease.

Serotype

Serotypes B51, B5, B52, and B53 recognition of some HLA B*51 allele-group gene products [3]
B*51B51B5B52B53Sample
allele % % % %size (N)
*5101 96211899
*5102 733611218
*5104 83176
*5105 48162425
*5106 6471242
*5107 78968
*5108 773154
*5109 8643
B* *5102 also reacts to B5102 - 3%, * *5103 with B5103
Alleles link-out to IMGT/HLA Databease at EBI

Alleles

There are 71 alleles, 57 amino acid sequence variants in B51 of which 4 are nulls. Of these only 9 are frequent enough to have been reliably serotyped. B*5101 is the most common, but others have a large regional abundance.

HLA B*5101 frequencies
freq
ref.Population(%)
[4] Bulgaria20.9
[4] Georgia Tbilisi Georgians15.7
[4] India Tamil Nadu Nadar15.6
[4] China North Han14.8
[4] Georgia Tbilisi Kurds12.1
[4] India Andhra Pradesh Golla12.0
[4] China Qinghai Hui11.4
[4] India New Delhi9.8
[4] Madeira9.7
[4] South Africa Natal Tamil9.2
[4] USA Hawaii Okinawa8.7
[4] Cape Verde Northwestern Islands8.1
[4] Cape Verde Southeastern Islands7.3
[4] India Mumbai Marathas6.8
[4] Russia Tuva pop 26.1
[4] Israel Arab Druse6.0
[4] China Inner Mongolia5.9
[4] Czech Republic5.7
[4] Finland5.6
[4] Iran Baloch8.1
[4] Brazil5.1
[4] Mexico Guadalajara Mestizos4.9
[4] New Mexico Canoncito Navajo4.9
[4] China South Han4.6
[4] India North Hindus3.8
[4] Thailand3.1
[4] Ivory Coast Akan Adiopodoume2.3
[4] Singapore Chinese Han2.3
[4] Singapore Javanese Indonesians2.0
[4] Taiwan Saisiat2.0
[4] Kenya1.7
[4] Cameroon Yaounde1.6
[4] Senegal Niokholo Mandenka1.6
[4] Guinea Bissau1.5
[4] USA Arizona Pima1.1
[4] Venezuela Perja Mountain Bari1.1
[4] Taiwan Pazeh0.9
[4] China Guangdong Meizhou Han0.5
[4] Israel Ashk. & Non Ashk. Jews0.5
[4] Singapore Thai3.0
[4] Iran Baloch1.0
[4] USA Asian1.0

Disease associations

By serotype

Bw51 was associated with Behçet's disease, [5] in endemic (versus epidemic) mucocutaneous lymph node syndrome, [6] susceptibility to the virus that causes German measles infection. [7]

HLA B*5102 frequencies
freq
ref.Population(%)
[4] Mexico Sonora Seri1.5
[4] Thailand1.4
[4] Singapore Chinese1.3
[4] Hong Kong Chinese1.0
[4] USA Natives0.8
[4] Mexico Zaptotec Oaxaca0.7
[4] South Korea pop 30.6
[4] Shijiazhuang Tianjian Han0.5
[4] China Guangxi Maonan0.5
[4] Japan (5)0.4
[4] USA Asian0.4
[4] USA Hispanic0.4
[4] USA African America0.2

In Behçet's disease

Behçet's disease is an inflammation of the wall of blood vessels that can involve the eyes, skin, and the rest of the body. [8] Several alleles of B51 (B*5101, B*5108, B*5105, and B*5104) are found in disease, and linkage to markers, D6S285, in the HLA locus was strong (P<0.005). [9] Homozygotes of B51 showed considerably high risk for disease indicating a possible gene-dose effect. B51 is capable of distinguishing several varieties of disease. HLA-B51 is found more frequently in disease that has an eye involvement. [10] However it is less common in some regions when there is increased neurological involvement. [11] The MICA*009 allele has been found to also associated with ABD when B51 is also present, [12] IL-8 and other cytokines may also be involved. [13] [14] Sister chromatid exchange has also been observed more frequently in B51(+) ABD. [15]

However, B51 tends not to be found in ABD when a certain SUMO4 gene variant is involved, [16] and symptoms appear to be milder when HLA-B27 is present. [17]

Related Research Articles

HLA DR3-DQ2 is double serotype that specifically recognizes cells from individuals who carry a multigene HLA DR, DQ haplotype. Certain HLA DR and DQ genes have known involvement in autoimmune diseases. DR3-DQ2, a multigene haplotype, stands out in prominence because it is a factor in several prominent diseases, namely coeliac disease and juvenile diabetes. In coeliac disease, the DR3-DQ2 haplotype is associated with highest risk for disease in first degree relatives, highest risk is conferred by DQA1*0501:DQB1*0201 homozygotes and semihomozygotes of DQ2, and represents the overwhelming majority of risk. HLA DR3-DQ2 encodes DQ2.5cis isoform of HLA-DQ, this isoform is described frequently as 'the DQ2 isoform', but in actuality there are two major DQ2 isoform. The DQ2.5 isoform, however, is many times more frequently associated with autoimmune disease, and as a result to contribution of DQ2.2 is often ignored.

<span class="mw-page-title-main">HLA-DQ4</span>

HLA-DQ4 (DQ4) is a serotype subgroup within HLA-DQ(DQ) serotypes. The serotype is determined by the antibody recognition of β4 subset of DQ β-chains. The β-chain of DQ is encoded by HLA-DQB1 locus and DQ4 are encoded by the HLA-DQB1*04 allele group. This group currently contains 2 common alleles, DQB1*0401 and DQB1*0402. HLA-DQ4 and HLA-DQB1*04 are almost synonymous in meaning. DQ4 β-chains combine with α-chains, encoded by genetically linked HLA-DQA1 alleles, to form the cis-haplotype isoforms. These isoforms, nicknamed DQ4.3 and DQ4.4, are also encoded by the DQA1*0303 and DQA1*0401 genes, respectively.

<span class="mw-page-title-main">HLA-DQ6</span>

HLA-DQ6 (DQ6) is a human leukocyte antigen serotype within HLA-DQ (DQ) serotype group. The serotype is determined by the antibody recognition of β6 subset of DQ β-chains. The β-chain of DQ isoforms are encoded by HLA-DQB1 locus and DQ6 are encoded by the HLA-DQB1*06 allele group. This group currently contains many common alleles, DQB1*0602 is the most common. HLA-DQ6 and DQB1*06 are almost synonymous in meaning. DQ6 β-chains combine with α-chains, encoded by genetically linked HLA-DQA1 alleles, to form the cis-haplotype isoforms. For DQ6, however, cis-isoform pairing only occurs with DQ1 α-chains. There are many haplotypes of DQ6.

<span class="mw-page-title-main">HLA-DQ1</span> Serotype that covers a broad range of HLA-DQ haplotypes.

HLA-DQ1 is a serotype that covers a broad range of HLA-DQ haplotypes. Historically it was identified as a DR-like alpha chain called DC1; later, it was among 3 types DQw1, DQw2 and DQw3. Of these three serotyping specificities only DQw1 recognized DQ alpha chain. The serotype is positive in individuals who bear the DQA1*01 alleles. The most frequently found within this group are: DQA1*0101, *0102, *0103, and *0104. In the illustration on the right, DQ1 serotyping antibodies recognizes the DQ α (magenta), where antibodies to DQA1* gene products bind variable regions close to the peptide binding pocket.

<span class="mw-page-title-main">HLA-DR17</span>

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. DR17 is part of the broader antigen group HLA-DR3 and is very similar to the group HLA-DR18.

<span class="mw-page-title-main">HLA-DR3</span>

HLA-DR3 is composed of the HLA-DR17 and HLA-DR18 split 'antigens' serotypes. DR3 is a component gene-allele of the AH8.1 haplotype in Northern and Western Europeans. Genes between B8 and DR3 on this haplotype are frequently associated with autoimmune disease. Type 1 diabetes mellitus is associated with HLA-DR3 or HLA-DR4. Nearly half the US population has either DR3 or DR4, yet only a small percentage of these individuals will develop type 1 diabetes.

<span class="mw-page-title-main">HLA-A1</span>

HLA-A1 (A1) is a human leukocyte antigen serotype within HLA-A "A" serotype group. The serotype is determined by the antibody recognition of α1 subset of HLA-A α-chains. For A1, the alpha "A" chain are encoded by the HLA-A*01 allele group and the β-chain are encoded by B2M locus. This group currently is dominated by A*01:01. A1 and A*01 are almost synonymous in meaning. A1 is more common in Europe than elsewhere, it is part of a long haplotype that appears to have been frequent in the ancient peoples of Northwestern Europe. A1 is a frequent component of the AH8.1 haplotype. A1 serotype positivity is roughly linked to a large number of inflammatory diseases and conditions believed to have immune system involvement. Because of its linkage within the AH8.1 haplotype many studies showed association with A1 or A1,B8 only later to show the association drift toward the class II region gene alleles, DR3 and DQ2.5. While it is not clear what role A1 has in infectious disease, some linkage with infection rates in HIV remain associated within the A1 region of the haplotype.

<span class="mw-page-title-main">HLA-A*02</span>

HLA-A*02 (A*02) is a human leukocyte antigen serotype within the HLA-A serotype group. The serotype is determined by the antibody recognition of the α2 domain of the HLA-A α-chain. For A*02, the α chain is encoded by the HLA-A*02 gene and the β chain is encoded by the B2M locus. In 2010 the World Health Organization Naming Committee for Factors of the HLA System revised the nomenclature for HLAs. Before this revision, HLA-A*02 was also referred to as HLA-A2, HLA-A02, and HLA-A*2.

<span class="mw-page-title-main">HLA-A69</span>

HLA-A69 (A69) is a human leukocyte antigen serotype within HLA-A serotype group. The serotype is determined by the antibody recognition of α69 subset of HLA-A α-chains. For A69, the alpha "A" chain are encoded by the HLA-A*69 allele group and the β-chain are encoded by B2M locus. This group currently is dominated by A*6901. A69 and A*69 are almost synonymous in meaning. A69 is a split antigen of the broad antigen serotype A28. A69 is a sister serotype of A68.

<span class="mw-page-title-main">HLA-A31</span>

HLA-A31 (A31) is a human leukocyte antigen serotype within HLA-A serotype group. The serotype is determined by the antibody recognition of α31 subset of HLA-A α-chains. For A31, the alpha "A" chain are encoded by the HLA-A*31 allele group and the β-chain are encoded by B2M locus. This group currently is dominated by A*3101. A31 and A*31 are almost synonymous in meaning. A31 is a split antigen of the broad antigen serotype A19. A31 is a sister serotype of A29, A30, A32, A33, and A74.

HLA-B67 (B67) is an HLA-B serotype. The serotype identifies the more common HLA-B*67 gene products. B67 is region specific recombinant haplotype formed by the gene conversion of B*39, an allele common along the Northwest Pacific Rim, and B7, B22, or B27.

HLA-B59 (B59) is an HLA-B serotype. The serotype identifies the more common HLA-B*## gene products. B59 is a hybrid between B*55 and B*51. B59 is more common in Japan, Korea, N. China and Mongolia.

HLA-B18 (B18) is an HLA-B serotype. The serotype identifies the more common HLA-B*18 gene products. B*1801, the most common allele is at highest frequencies in Northern Italy and the Balkans, a peak frequency distribution it shares with B*3501.

<span class="mw-page-title-main">HLA-B8</span>

HLA-B8 (B8) is an HLA-B serotype. The serotype identifies the HLA-B*08 gene products. HLA-B8, previously known as HL-A8 was one of the first identified of the HLA antigens. It coined the "Super B8" haplotype, also called the ancestral European haplotype because of its common occurrence in Europe, particular the isles and Scandinavia. B8 is a component gene-allele of the AH8.1 haplotype in Northern and Western Europeans. Genes between B8 and DR3 on this haplotype are frequently associated with autoimmune disease.

<span class="mw-page-title-main">HLA-B7</span>

HLA-B7 (B7) is an HLA-B serotype. The serotype identifies the more common HLA-B*07 gene products. B7, previously HL-A7, was one of the first 'HL-A' antigens recognized, largely because of the frequency of B*0702 in Northern and Western Europe and the United States. B7 is found in two major haplotypes in Europe, where it reaches peak frequency in Ireland. One haplotype A3-B7-DR15-DQ1 can be found over a vast region and is in apparent selective disequilibrium. B7 is a risk factor for cervical cancer, sarcoidosis, and early-onset spondylarthropathies.

HLA-B55 (B55) is an HLA-B serotype. B55 is a split antigen from the B22 broad antigen, sister serotypes are B54 and B56. The serotype identifies the more common HLA-B*55 gene products.

HLA-B49 (B49) is an HLA-B serotype. B49 is a split antigen from the B21 broad antigen, the sister serotype B50. The serotype identifies the more common HLA-B*50 gene products.

<span class="mw-page-title-main">HLA-B52</span>

HLA-B52 (B52) is an HLA-B serotype. The serotype identifies the more common HLA-B*52 gene products.

<span class="mw-page-title-main">HLA-B39</span>

HLA-B39 (B39) is an HLA-B serotype. The serotype identifies the more common HLA-B*39 gene products.

<span class="mw-page-title-main">HLA-B44</span>

HLA-B44 (B44) is an HLA-B serotype. The serotype identifies the B*44 gene-allele protein products of HLA-B.

References

  1. ↑ Marsh, S. G.; Albert, E. D.; Bodmer, W. F.; Bontrop, R. E.; Dupont, B.; Erlich, H. A.; Fernández-Viña, M.; Geraghty, D. E.; Holdsworth, R.; Hurley, C. K.; Lau, M.; Lee, K. W.; Mach, B.; Maiers, M.; Mayr, W. R.; Müller, C. R.; Parham, P.; Petersdorf, E. W.; Sasazuki, T.; Strominger, J. L.; Svejgaard, A.; Terasaki, P. I.; Tiercy, J. M.; Trowsdale, J. (2010). "Nomenclature for factors of the HLA system, 2010". Tissue Antigens. 75 (4): 291–455. doi:10.1111/j.1399-0039.2010.01466.x. PMC   2848993 . PMID   20356336.
  2. ↑ Cox ST, McWhinnie AJ, Robinson J, et al. (January 2003). "Cloning and sequencing full-length HLA-B and -C genes" (PDF). Tissue Antigens. 61 (1): 20–48. doi:10.1034/j.1399-0039.2003.610103.x. PMID   12622774. Archived from the original (PDF) on 2008-10-28. Retrieved 2008-08-03.
  3. ↑ derived from IMGT/HLA
  4. 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 Middleton D, Menchaca L, Rood H, Komerofsky R (2003). "New allele frequency database: http://www.allelefrequencies.net". Tissue Antigens. 61 (5): 403–7. doi: 10.1034/j.1399-0039.2003.00062.x . PMID   12753660.
  5. ↑ Ohno S, Ohguchi M, Hirose S, Matsuda H, Wakisaka A, Aizawa M (September 1982). "Close association of HLA-Bw51 with Behçet's disease". Arch. Ophthalmol. 100 (9): 1455–8. doi:10.1001/archopht.1982.01030040433013. PMID   6956266.
  6. ↑ Keren G, Danon YL, Orgad S, Kalt R, Gazit E (August 1982). "HLA Bw51 is increased in mucocutaneous lymph node syndrome in Israeli patients". Tissue Antigens. 20 (2): 144–6. doi:10.1111/j.1399-0039.1982.tb00337.x. PMID   6958087.
  7. ↑ Ishii K, Nakazono N, Sawada H, et al. (1981). "Host factors and susceptibility to rubella virus infection: the association of HLA antigens". J. Med. Virol. 7 (4): 287–97. doi:10.1002/jmv.1890070405. PMID   6950026.
  8. ↑ Durrani K, Papaliodis GN (2008). "The genetics of Adamantiades-Behcet's disease". Semin Ophthalmol. 23 (1): 73–9. doi:10.1080/08820530701745264. PMID   18214795.
  9. ↑ Karasneh J, Gül A, Ollier WE, Silman AJ, Worthington J (June 2005). "Whole-genome screening for susceptibility genes in multicase families with Behçet's disease". Arthritis Rheum. 52 (6): 1836–42. doi:10.1002/art.21060. PMID   15934084.
  10. ↑ Krause L, Köhler AK, Altenburg A, Papoutsis N, Zouboulis CC, Pleyer U, Stroux A, Foerster MH (June 2008). "Ocular involvement is associated with HLA-B51 in Adamantiades-Behçet's disease". Eye. 23 (5): 1182–6. doi: 10.1038/eye.2008.177 . PMID   18551141.
  11. ↑ Houman MH, Neffati H, Braham A, et al. (2007). "Behçet's disease in Tunisia. Demographic, clinical and genetic aspects in 260 patients". Clin. Exp. Rheumatol. 25 (4 Suppl 45): S58–64. PMID   17949553.
  12. ↑ Mizuki N, Meguro A, Tohnai I, Gül A, Ohno S, Mizuki N (2007). "Association of Major Histocompatibility Complex Class I Chain-Related Gene A and HLA-B Alleles with Behçet's Disease in Turkey". Jpn. J. Ophthalmol. 51 (6): 431–6. doi:10.1007/s10384-007-0473-y. PMID   18158593.
  13. ↑ Lee EB, Kim JY, Zhao J, Park MH, Song YW (February 2007). "Haplotype association of IL-8 gene with Behcet's disease". Tissue Antigens. 69 (2): 128–32. doi:10.1111/j.1399-0039.2006.00736.x. PMID   17257314.
  14. ↑ Pay S, Simşek I, Erdem H, Dinç A (March 2007). "Immunopathogenesis of Behçet's disease with special emphasize on the possible role of antigen presenting cells". Rheumatol. Int. 27 (5): 417–24. doi:10.1007/s00296-006-0281-6. PMID   17171346.
  15. ↑ Ikbal M, Atasoy M, Pirim I, Aliagaoglu C, Karatay S, Erdem T (February 2006). "The alteration of sister chromatid exchange frequencies in Behçet's disease with and without HLA-B51". J Eur Acad Dermatol Venereol. 20 (2): 149–52. doi:10.1111/j.1468-3083.2006.01386.x. PMID   16441621.
  16. ↑ Hou S, Yang P, Du L, et al. (July 2008). "SUMO4 gene polymorphisms in Chinese Han patients with Behcet's disease". Clin. Immunol. 129 (1): 170–5. doi:10.1016/j.clim.2008.06.006. PMID   18657476.
  17. ↑ Ahn JK, Park YG (October 2007). "Human leukocyte antigen B27 and B51 double-positive Behçet uveitis". Arch. Ophthalmol. 125 (10): 1375–80. doi: 10.1001/archopht.125.10.1375 . PMID   17923546.
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