HLA-B52
 | ||
| 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
[edit]| 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 | |||||
| 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
[edit]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
[edit]In ulcerative colitis
[edit]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
[edit]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
[edit]- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ derived from IMGT/HLA
- 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 56 57 58 59 60 61 62 63 64 65 66 67 68 69 70 71 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.
- ↑ 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.
- ↑ 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.
- ↑ 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
- ↑ 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
- ↑ 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.
- ↑ 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.
- ↑ 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.