HLA-B51

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Further information: HLA-serotype tutorial
3D representation of HLA-B*5101 (blue) displaying HIV immunodominant epitope KM2 (green) PDB: 1e28
B*5101-β2M with bound peptide 1e28​
major histocompatibility complex (human), class I, B51
Alleles B*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]

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*51 B51 B5 B52 B53 Sample
allele % % % % size (N)
*5101 96 2 1 1899
*5102 73 3 6 11 218
*5104 83 17 6
*5105 48 16 24 25
*5106 64 7 12 42
*5107 78 9 68
*5108 77 3 154
*5109 86 43
B**5102 also reacts to B5102 - 3%, **5103 with B5103
Alleles link-out to /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] Bulgaria 20.9
[4] Georgia Tbilisi Georgians 15.7
[4] India Tamil Nadu Nadar 15.6
[4] China North Han 14.8
[4] Georgia Tbilisi Kurds 12.1
[4] India Andhra Pradesh Golla 12.0
[4] China Qinghai Hui 11.4
[4] India New Delhi 9.8
[4] Madeira 9.7
[4] South Africa Natal Tamil 9.2
[4] USA Hawaii Okinawa 8.7
[4] Cape Verde Northwestern Islands 8.1
[4] Cape Verde Southeastern Islands 7.3
[4] India Mumbai Marathas 6.8
[4] Russia Tuva pop 2 6.1
[4] Israel Arab Druse 6.0
[4] China Inner Mongolia 5.9
[4] Czech Republic 5.7
[4] Finland 5.6
[4] Iran Baloch 8.1
[4] Brazil 5.1
[4] Mexico Guadalajara Mestizos 4.9
[4] New Mexico Canoncito Navajo 4.9
[4] China South Han 4.6
[4] India North Hindus 3.8
[4] Thailand 3.1
[4] Ivory Coast Akan Adiopodoume 2.3
[4] Singapore Chinese Han 2.3
[4] Singapore Javanese Indonesians 2.0
[4] Taiwan Saisiat 2.0
[4] Kenya 1.7
[4] Cameroon Yaounde 1.6
[4] Senegal Niokholo Mandenka 1.6
[4] Guinea Bissau 1.5
[4] USA Arizona Pima 1.1
[4] Venezuela Perja Mountain Bari 1.1
[4] Taiwan Pazeh 0.9
[4] China Guangdong Meizhou Han 0.5
[4] Israel Ashk. & Non Ashk. Jews 0.5
[4] Singapore Thai 3.0
[4] Iran Baloch 1.0
[4] USA Asian 1.0

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 Seri 1.5
[4] Thailand 1.4
[4] Singapore Chinese 1.3
[4] Hong Kong Chinese 1.0
[4] USA Natives 0.8
[4] Mexico Zaptotec Oaxaca 0.7
[4] South Korea pop 3 0.6
[4] Shijiazhuang Tianjian Han 0.5
[4] China Guangxi Maonan 0.5
[4] Japan (5) 0.4
[4] USA Asian 0.4
[4] USA Hispanic 0.4
[4] USA African America 0.2

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]

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. ^ a b c d e f g h i j k l m n o p q r s t u v w x y z aa ab ac ad ae af ag ah ai aj ak al am an ao ap aq ar as at au av aw ax ay az ba bb bc 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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