HLA-B52

Further information: HLA-serotype tutorial
Illustration of HLA-B with peptide in the binding pocket.
B*5101-β2MG with bound peptide 1e27​
major histocompatibility complex (human), class I, B52
Alleles B*5201, 5202, 5203, . . .
Structure (See HLA-B)
Shared data
Locus chr.6 6p21.31

HLA-B52 (B52) is an HLA-B serotype. The serotype identifies the more common HLA-B*52 gene products.[1]

B52 is a split antigen of the broad antigen B5, and is a sister type of B51. B*5201 likely formed as a result of a gene conversion event between another HLA-B allele and HLA-B*5101.[2] There are a number of alleles within the B*52 allele group.[3]

Serotype

Serotypes B52, B5, B51, and B53 recognition of HLA B*5201 gene product[4]
B*52 B52 B5 B51 B53 Sample
allele % % % % size (N)
*5201 84 2 7 1 2823
Alleles link-out to IMGT/HLA Databease at EBI
HLA *5201 frequencies
freq
ref. Population (%)
[5] China Yunnan Lisu 21.7
[5] China Yunnan Nu 18.6
[5] Bulgaria Gipsy 18.2
[5] Venezuela Sierra de Perija Yucpa 12.8
[5] India Andhra Pradesh Golla 12.0
[5] Japan Central 10.7
[5] Japan 10.4
[5] Georgia Tbilisi Kurds 10.3
[5] Mali Bandiagara 8.3
[5] South Africa Natal Tamil 8.2
[5] Israel Ashk. and Non-Ashk. Jews 7.3
[5] India North Hindus 6.7
[5] China Beijing 6.1
[5] India New Delhi 6.1
[5] India Mumbai Marathas 5.6
[5] Tunisia Ghannouch 5.5
[5] Thailand pop3 5.1
[5] India West Coast Parsis 5.0
[5] India North Delhi 4.9
[5] Mexico Mestizos 4.9
[5] Argentina Toba Rosario 4.7
[5] Mexico Zaptotec Oaxaca 4.5
[5] USA Hispanic 4.5
[5] China Qinghai Hui 4.1
[5] China Inner Mongolia 3.9
[5] China North Han 3.8
[5] Oman 3.8
[5] Senegal Niokholo Mandenka 3.7
[5] Bulgaria 3.6
[5] Thailand 3.5
[5] Ivory Coast Akan Adiopodoume 3.4
[5] Venezuela Perja Mountain Bari 3.4
[5] Italy North pop 1 3.3
[5] Sudanese 3.3
[5] Romanian 3.2
[5] Singapore Riau Malay 3.0
[5] Autonomous Region Tibetans 2.8
[5] Russia Tuva pop 2 2.8
[5] South Korea pop 3 2.8
[5] Iran Baloch 2.5
[5] Tunisia 2.5
[5] Jordan Amman 2.4
[5] USA Hawaii Okinawa 2.4
[5] Singapore Javanese Indonesians 2.0
[5] Spain Eastern Andalusia 1.8
[5] Macedonia pop 4 1.6
[5] Uganda Kampala 1.6
[5] Belgium 1.5
[5] Mexico Guadalajara Mestizos pop2 1.5
[5] Singapore Thai 1.5
[5] Brazil 1.4
[5] China Yunnan Lisu 1.4
[5] Azores Santa Maria and Sao Miguel 1.3
[5] France South East 1.2
[5] Italy North Pavia 1.2
[5] Saudi Arabia Guraiat and Hail 1.2
[5] Mexico Chihuahua State Tarahumara 1.1
[5] Tunisia Tunis 1.1
[5] Israel Arab Druse 1.0
[5] Japan Ainu Hokkaido 1.0
[5] Portugal Centre 1.0
[5] Singapore Chinese 1.0
[5] Taiwan Minnan pop 1 1.0
[5] USA Caucasian 1.0
[5] Azores Central Islands 0.9
[5] China South Han 0.9
[5] Macedonia pop 4 0.7
[5] Morocco Nador Metalsa Class I 0.7
[5] Georgia Svaneti Svans 0.6
[5] Ireland South 0.6
[5] Italy Bergamo 0.6

Alleles

There are 18 alleles, with 14 amino acid sequence variants in B52. Of these only 9 are frequent enough to have been reliably serotyped. B*5201 is the most common, but others have a large regional abundance.

Disease

In ulcerative colitis

HLA-B52 appears to have the strongest linkage to ulcerative colitis in Japan.[6][7] This form of disease is frequently found with Takayasu's arteritis.[8][9]

In Takayasu's arteritis

Takayasu's arteritis appears to have an independent link to B52 associated disease.[10][11] The association with B*5201 increases risk of pulmonary infarction, ischemic heart disease, aortic regurgitation, systemic hypertension, renal artery stenosis, cerebrovascular disease, and visual disturbance.[12]

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. ^ Hayashi H, Ennis PD, Ariga H, et al. (January 1989). "HLA-B51 and HLA-Bw52 differ by only two amino acids which are in the helical region of the alpha 1 domain". J. Immunol. 142 (1): 306–11. PMID 2909619.
  4. ^ derived from IMGT/HLA
  5. ^ 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 bd be bf bg bh bi bj bk bl bm bn bo bp bq br bs Middleton D, Menchaca L, Rood H, Komerofsky R (2003). "New allele frequency database". Tissue Antigens. 61 (5): 403–7. doi:10.1034/j.1399-0039.2003.00062.x. PMID 12753660.
  6. ^ Sugimura K, Asakura H, Mizuki N, et al. (February 1993). "Analysis of genes within the HLA region affecting susceptibility to ulcerative colitis". Hum. Immunol. 36 (2): 112–8. doi:10.1016/0198-8859(93)90113-F. PMID 8096500.
  7. ^ Nomura E, Kinouchi Y, Negoro K, et al. (September 2004). "Mapping of a disease susceptibility locus in chromosome 6p in Japanese patients with ulcerative colitis". Genes Immun. 5 (6): 477–83. doi:10.1038/sj.gene.6364114. PMID 15215890.
  8. ^ Oyanagi, Hironobu; Ishihata, R; Ishikawa, H; et al. (February 1994), "Ulcerative colitis associated with Takayasu's disease", Intern. Med., 33 (2): 127–129, doi:10.2169/internalmedicine.33.127, PMID 7912572
  9. ^ Sato, R; Sato, Y; Ishikawa, H; et al. (December 1994), "Takayasu's disease associated with ulcerative colitis", Intern. Med., 33 (12): 759–763, doi:10.2169/internalmedicine.33.759, PMID 7718956
  10. ^ Kimura A, Kitamura H, Date Y, Numano F (August 1996). "Comprehensive analysis of HLA genes in Takayasu arteritis in Japan". Int. J. Cardiol. 54 Suppl: S61–9. doi:10.1016/s0167-5273(96)88774-2. PMID 9119528.
  11. ^ Yoshida M, Kimura A, Katsuragi K, Numano F, Sasazuki T (August 1993). "DNA typing of HLA-B gene in Takayasu's arteritis". Tissue Antigens. 42 (2): 87–90. doi:10.1111/j.1399-0039.1993.tb02242.x. PMID 7903491.
  12. ^ Kitamura H, Kobayashi Y, Kimura A, Numano F (October 1998). "Association of clinical manifestations with HLA-B alleles in Takayasu arteritis". Int. J. Cardiol. 66 Suppl 1: S121–6. doi:10.1016/S0167-5273(98)00159-4. PMID 9951811.

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