HLA-B51

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

Further information: HLA-serotype tutorial

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​

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 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]	Bulgaria	20.9
[4]	Georgia Tibilisi Georgians	15.7
[4]	India Tamil Nadu Nadar	15.6
[4]	China North Han	14.8
[4]	Georgia Tibilisi 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. 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.