HLA-B51

Further information: HLA-serotype tutorial
B*5101-β2MG with bound peptide 1e27​
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 a large number of 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 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 Tibilisi Georgians15.7
[4] India Tamil Nadu Nadar15.6
[4] China North Han14.8
[4] Georgia Tibilisi 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] Thailand 3.1
[4] Ivory Coast Akan Adiopodoume2.3
[4] Singapore Chinese Han2.3
[4] Singapore Javanese Indonesians2.0
[4] Taiwan Saisiat2.0
[4] Kenya 1.7
[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]

References

  1. ↑ Marsh SG, Albert ED, Bodmer WF, et al. (2005). "Nomenclature for factors of the HLA system, 2004". Tissue Antigens. 65 (4): 301–69. doi:10.1111/j.1399-0039.2005.00379.x. PMID 15787720.
  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.
  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. External link in |title= (help)
  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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