HLA-B52 explained

B*5101-β2MG with bound peptide

major histocompatibility complex (human), class I, B52

Alleles B*5201, 5202, 5203, . . .
Structure (See HLA-B)
Shared data
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 Lisu21.7
China Yunnan Nu18.6
Bulgaria Gipsy18.2
Venezuela Sierra de Perija Yucpa12.8
India Andhra Pradesh Golla12.0
Japan Central10.7
Japan10.4
Georgia Tbilisi Kurds10.3
Mali Bandiagara8.3
South Africa Natal Tamil8.2
Israel Ashk. and Non-Ashk. Jews7.3
India North Hindus6.7
China Beijing6.1
India New Delhi6.1
India Mumbai Marathas5.6
Tunisia Ghannouch5.5
Thailand pop35.1
India West Coast Parsis5.0
India North Delhi4.9
Mexico Mestizos4.9
Argentina Toba Rosario4.7
Mexico Zaptotec Oaxaca4.5
USA Hispanic4.5
China Qinghai Hui4.1
China Inner Mongolia3.9
China North Han3.8
Oman3.8
Senegal Niokholo Mandenka3.7
Bulgaria3.6
Thailand3.5
Ivory Coast Akan Adiopodoume3.4
Venezuela Perja Mountain Bari3.4
Italy North pop 13.3
Sudanese3.3
Romanian3.2
Singapore Riau Malay3.0
Autonomous Region Tibetans2.8
Russia Tuva pop 22.8
South Korea pop 32.8
Iran Baloch2.5
Tunisia2.5
Jordan Amman2.4
USA Hawaii Okinawa2.4
Singapore Javanese Indonesians2.0
Spain Eastern Andalusia1.8
Macedonia pop 41.6
Uganda Kampala1.6
Belgium1.5
Mexico Guadalajara Mestizos pop21.5
Singapore Thai1.5
Brazil1.4
China Yunnan Lisu1.4
Azores Santa Maria and Sao Miguel1.3
France South East1.2
Italy North Pavia1.2
Saudi Arabia Guraiat and Hail1.2
Mexico Chihuahua State Tarahumara1.1
Tunisia Tunis1.1
Israel Arab Druse1.0
Japan Ainu Hokkaido1.0
Portugal Centre1.0
Singapore Chinese1.0
Taiwan Minnan pop 11.0
USA Caucasian 1.0
Azores Central Islands0.9
China South Han0.9
Macedonia pop 40.7
Morocco Nador Metalsa Class I0.7
Georgia Svaneti Svans0.6
Ireland South0.6
Italy Bergamo0.6

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.

In Takayasu's arteritis

Takayasu's arteritis appears to have an independent link to B52 associated disease.[8] [9] 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.[10]

Notes and References

  1. 2848993 . 2010 . Marsh . S. G. . Nomenclature for factors of the HLA system, 2010 . Tissue Antigens . 75 . 4 . 291–455 . 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. . 20356336 . 10.1111/j.1399-0039.2010.01466.x .
  2. Cox ST, McWhinnie AJ, Robinson J, etal . Cloning and sequencing full-length HLA-B and -C genes . Tissue Antigens . 61 . 1 . 20–48 . January 2003 . 12622774 . 10.1034/j.1399-0039.2003.610103.x . https://wayback.archive-it.org/all/20081028235823/http://www.ebi.ac.uk/~sp/intern/projects/pdf_archive/pdfpumped/4/12622774.pdf . dead . 2008-10-28 . 2008-08-03 .
  3. Hayashi H, Ennis PD, Ariga H, etal . 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 . January 1989 . 2909619 .
  4. http://www.ebi.ac.uk/imgt/hla/allele.html derived from IMGT/HLA
  5. Middleton D, Menchaca L, Rood H, Komerofsky R . New allele frequency database . Tissue Antigens . 61 . 5 . 403–7 . 2003 . 12753660 . 10.1034/j.1399-0039.2003.00062.x . free .
  6. Sugimura K, Asakura H, Mizuki N, etal . Analysis of genes within the HLA region affecting susceptibility to ulcerative colitis . Hum. Immunol. . 36 . 2 . 112–8 . February 1993 . 8096500 . 10.1016/0198-8859(93)90113-F.
  7. Nomura E, Kinouchi Y, Negoro K, etal . Mapping of a disease susceptibility locus in chromosome 6p in Japanese patients with ulcerative colitis . Genes Immun. . 5 . 6 . 477–83 . September 2004 . 15215890 . 10.1038/sj.gene.6364114 .
  8. Kimura A, Kitamura H, Date Y, Numano F . Comprehensive analysis of HLA genes in Takayasu arteritis in Japan . Int. J. Cardiol. . 54 Suppl . S61–9 . August 1996 . 9119528 . 10.1016/s0167-5273(96)88774-2.
  9. Yoshida M, Kimura A, Katsuragi K, Numano F, Sasazuki T . DNA typing of HLA-B gene in Takayasu's arteritis . Tissue Antigens . 42 . 2 . 87–90 . August 1993 . 7903491 . 10.1111/j.1399-0039.1993.tb02242.x.
  10. Kitamura H, Kobayashi Y, Kimura A, Numano F . Association of clinical manifestations with HLA-B alleles in Takayasu arteritis . Int. J. Cardiol. . 66 Suppl 1 . S121–6 . October 1998 . 9951811 . 10.1016/S0167-5273(98)00159-4.