HLA-B (alpha)-β2MG with bound peptide | ||
major histocompatibility complex (human), class I, B39 | ||
Alleles | B*3901, 3902, 3903, . . | |
Structure (See HLA-B) | ||
Shared data | ||
Locus | chr.6 6p21.31 |
HLA-B39 (B39) is an HLA-B serotype. The serotype identifies the more common HLA-B*39 gene products. [1]
B39 is a split antigen of the broad antigen B16, and is a sister type of B38. B39 is most commonly found on the west pacific rim, in Japan and highest frequency in the new world. In Europe it is found in Scandinavia and Northern Russia.
B*39 | B39 | B16 | B38 | Sample | |
allele | % | % | % | size (N) | |
*3901 | 95 | 476 | |||
*3902 | 87 | 96 | |||
*3903 | 77 | 20 | |||
*3905 | 82 | 245 | |||
*3906 | 94 | 508 | |||
*3908 | 48 | 57 | |||
*3909 | 97 | 13 | |||
*3910 | 82 | 127 | |||
*3911 | 69 | 16 | |||
Alleles link-out to IMGT/HLA Databease at EBI |
The serology for the most common B39 alleles, B*3901 and B*3906 is good, but some allele products are not well detected. Given the differential involvement of these alleles in disease testing should involve high resolution typing.
freq | ||
ref. | Population | (%) |
[3] | Venezuela Perja Mountain Bari | 23.9 |
Mexico Mixtec Oaxaca | 8.8 | |
USA Arizona Pima | 7.3 | |
USA South Texas Hispanics | 5.6 | |
Mexico Zaptotec Oaxaca | 4.5 | |
New Mexico Canoncito Navajo | 3.7 | |
Oman | 2.5 | |
PNG Wanigela | 2.3 | |
Tunisia Tunis | 2.3 | |
North American Natives | 1.9 | |
USA Hispanic | 1.7 | |
Brazil Belo Horizonte | 1.6 | |
South Dakota Lakota Sioux | 1.5 | |
Cuban White | 1.4 | |
Azores S. Maria & S. Miguel | 1.3 | |
Australia New South Wales | 1.1 | |
Finland | 1.1 | |
Portugal North | 1.1 | |
Portugal Centre | 1.0 | |
Spain Eastern Andalusia Gipsy | 1.0 | |
Brazil Terena | 0.9 | |
Ireland Northern | 0.9 | |
Azores Terceira Island | 0.8 | |
USA Caucasian pop2 | 0.8 | |
Brazil | 0.7 | |
USA Philadelphia Caucasians | 0.7 | |
India Andhra Pradesh Golla | 0.5 | |
Thailand | 0.4 |
freq | ||
ref. | Population | (%) |
[3] | Taiwan Saisiat | 54.9 |
[3] | Taiwan Tsou | 24.5 |
[3] | South Dakota Lakota Sioux | 22.5 |
[3] | Taiwan Taroko | 21.8 |
[3] | Taiwan Atayal | 19.8 |
[3] | PNG Wanigela | 16.7 |
[3] | Japan Ainu Hokkaido | 16.0 |
[3] | Taiwan Bunun | 14.9 |
[3] | New Mexico Canoncito Navajo | 14.6 |
[3] | Taiwan Thao | 13.3 |
[3] | Taiwan Rukai | 13.0 |
[3] | Taiwan Ami | 10.2 |
[3] | USA Hawaii Okinawa | 7.7 |
[3] | Papua New Guinea Wosera | 7.0 |
[3] | Papua New Guinea Madang | 6.4 |
[3] | Mexico Mixtec Oaxaca | 5.9 |
[3] | Taiwan Puyuma | 5.0 |
[3] | Taiwan Paiwan | 4.9 |
[3] | New Caledonia | 4.8 |
[3] | Japan Central | 4.4 |
[3] | American Samoa | 4.0 |
[3] | USA North American Natives | 4.0 |
[3] | Taiwan Hakka | 3.6 |
[3] | Indig. Australian Cape York Peninsula | 3.5 |
[3] | Japan (5) | 3.5 |
[3] | Philippines Ivatan | 3.0 |
[3] | Brazil | 2.9 |
[3] | China Guangxi Maonan | 2.8 |
[3] | Georgia Tbilisi Georgians | 2.8 |
[3] | China Yunnan Nu | 2.6 |
[3] | Thailand | 2.5 |
[3] | Azores Terceira Island | 2.4 |
[3] | Singapore Chinese | 2.4 |
[3] | Romanian | 2.3 |
[3] | China Yunnan Lisu | 2.2 |
[3] | Indig. Australian Yuendumu | 2.1 |
[3] | China Guangzhou | 2.0 |
[3] | Croatia | 2.0 |
[3] | France South East | 1.9 |
[3] | Georgia Svaneti Svans | 1.9 |
[3] | PNG Karimui Plateau | 1.9 |
[3] | Azores Central Islands | 1.8 |
[3] | Spain Eastern Andalusia | 1.8 |
[3] | Uganda Kampala | 1.6 |
[3] | Mexico Zaptotec Oaxaca | 1.5 |
[3] | Singapore Thai | 1.5 |
[3] | China Guangzhou Han | 1.4 |
[3] | China Qinghai Hui | 1.4 |
[3] | Czech Republic | 1.4 |
[3] | Madeira | 1.4 |
[3] | Indig. Australian Kimberly | 1.3 |
[3] | Finland | 1.1 |
B39 is suggested as a factor in Takayasu's arteritis and gallstones in Mexico. [4] Osteoarticular complications of brucellosis appear to be associated with B39. [5] An association with spondylarthropathies [6] [7] and psoriatic arthritis [8] [9] was observed in several studies. Psoriatic arthritis appears to be linked to MICA-A9 which tightly linked to HLA-B39. [10] [11] B39 also appears to be involved in the Fishers syndrome variant of Guillain–Barré syndrome. [12]
B39 appears to be protective against cardiomyopathy in Chaga's disease indicating a possible selective factor in its rise in the New World. [13] Chaga's disease is caused by a trypanosome carried by a blood sucking insect found in tropical, palm growing regions.
Southern California now reports cases of Chaga's disease from contaminated transfusions and may be already a habitat for the vector. [14]
Takayasu's arteritis appears to have a link to B39. [15] [16] The association with B*3902 increases risk of pulmonary infarction, ischemic heart disease, aortic regurgitation, systemic hypertension, renal artery stenosis, cerebrovascular disease, and visual disturbance. [17] B*3906, common in indigenous Mesoamericans has been found associated with the same disease. [18]
freq | ||
ref. | Population | (%) |
[3] | Mexico Mixe Oaxaca | 38.7 |
Mexico Zaptotec Oaxaca | 13.4 | |
Mexico Mixtec Oaxaca | 5.9 | |
Mexico Mestizos | 1.2 | |
Japan pop5 | 0.9 | |
Cuban White | 0.7 | |
Israel Ashk. and Non Ashk. Jews | 0.5 | |
Japan Central | 0.5 | |
Senegal Niokholo Mandenka | 0.5 | |
B*3903 | ||
---|---|---|
PNG New Britain Rabaul | 13.2 | |
Brazil Terena | 11.2 | |
Argentina Toba Rosario | 5.2 | |
Brazil | 0.7 | |
Finland | 0.6 | |
Kenya Luo | 0.6 | |
North American Natives | 0.5 | |
B*3904 | ||
Argentina Toba Rosario | 1.2 | |
Georgia Svaneti Svans | 0.6 | |
Jordan Amman | 0.3 | |
Shijiazhuang Tianjian Han | 0.1 | |
Japan Central | 0.1 | |
Romanian | 0.1 | |
B*3905 | ||
Venezuela Perija Yucpa | 36.1 | |
Mexico Zaptotec Oaxaca | 12.7 | |
Mexico Mixtec Oaxaca | 9.8 | |
Mexico Mestizos | 4.9 | |
Arizona Pima | 4.5 | |
Mexico Guadalajara Mestizos | 2.4 | |
Argentina Toba Rosario | 2.3 | |
USA Hispanic | 2.1 | |
Mexico Mixe Oaxaca | 1.9 | |
Cuban White | 1.4 | |
Mexico Chihuahua Tarahumara | 1.1 | |
USA North American Natives | 0.5 | |
Shijiazhuang Tianjian Han | 0.2 | |
B*3907 | ||
Shijiazhuang Tianjian Han | 0.6 | |
Singapore Thai | 0.5 | |
China South Han | 0.2 | |
B*3908 | ||
Mexico Zaptotec Oaxaca | 2.2 | |
Mexico Mestizos | 1.2 | |
Mexico Mixtec Oaxaca | 1.0 | |
Brazil | 0.7 | |
USA Hispanic | 0.6 | |
B*3909 | ||
Venezuela Perija Yucpa | 34.9 | |
Thailand pop3 | 3.1 | |
Brazil Terena | 1.7 | |
China South Han | 1.4 | |
Argentina Toba Rosario | 1.2 | |
China Qinghai Hui | 0.9 | |
B*3910 | ||
Sudanese | 2.5 | |
Senegal Niokholo Mandenka | 2.1 | |
South African Natal Zulu | 1.5 | |
Cameroon Beti | 1.4 | |
Spain Eastern Andalusia | 1.2 | |
Kenya Luo | 1.1 | |
Israel Arab Druse | 1.0 | |
Kenya Nandi | 1.0 | |
Guinea Bissau | 0.8 | |
Kenya | 0.7 | |
Mali Bandiagara | 0.7 | |
Morocco Nador Metalsa Class I | 0.7 | |
Cameroon Bamileke | 0.6 | |
Cameroon Yaounde | 0.5 | |
Israel Ashk. and Non Ashk. Jews | 0.5 | |
Saudi Arabia Guraiat and Hail | 0.5 |
Takayasu's arteritis (TA), also known as aortic arch syndrome, nonspecific aortoarteritis, and pulseless disease, is a form of large vessel granulomatous vasculitis with massive intimal fibrosis and vascular narrowing, most commonly affecting young or middle-aged women of Asian descent, though anyone can be affected. It mainly affects the aorta and its branches, as well as the pulmonary arteries. Females are about 8–9 times more likely to be affected than males.
HLA DR3-DQ2 is double serotype that specifically recognizes cells from individuals who carry a multigene HLA DR, DQ haplotype. Certain HLA DR and DQ genes have known involvement in autoimmune diseases. DR3-DQ2, a multigene haplotype, stands out in prominence because it is a factor in several prominent diseases, namely coeliac disease and juvenile diabetes. In coeliac disease, the DR3-DQ2 haplotype is associated with highest risk for disease in first degree relatives, highest risk is conferred by DQA1*0501:DQB1*0201 homozygotes and semihomozygotes of DQ2, and represents the overwhelming majority of risk. HLA DR3-DQ2 encodes DQ2.5cis isoform of HLA-DQ, this isoform is described frequently as 'the DQ2 isoform', but in actuality there are two major DQ2 isoform. The DQ2.5 isoform, however, is many times more frequently associated with autoimmune disease, and as a result to contribution of DQ2.2 is often ignored.
HLA-DQ8 (DQ8) is a human leukocyte antigen serotype within the HLA-DQ (DQ) serotype group. DQ8 is a split antigen of the DQ3 broad antigen. DQ8 is determined by the antibody recognition of β8 and this generally detects the gene product of DQB1*0302.
HLA-DQ4 (DQ4) is a serotype subgroup within HLA-DQ(DQ) serotypes. The serotype is determined by the antibody recognition of β4 subset of DQ β-chains. The β-chain of DQ is encoded by HLA-DQB1 locus and DQ4 are encoded by the HLA-DQB1*04 allele group. This group currently contains 2 common alleles, DQB1*0401 and DQB1*0402. HLA-DQ4 and HLA-DQB1*04 are almost synonymous in meaning. DQ4 β-chains combine with α-chains, encoded by genetically linked HLA-DQA1 alleles, to form the cis-haplotype isoforms. These isoforms, nicknamed DQ4.3 and DQ4.4, are also encoded by the DQA1*0303 and DQA1*0401 genes, respectively.
HLA-DQ1 is a serotype that covers a broad range of HLA-DQ haplotypes. Historically it was identified as a DR-like alpha chain called DC1; later, it was among 3 types DQw1, DQw2 and DQw3. Of these three serotyping specificities only DQw1 recognized DQ alpha chain. The serotype is positive in individuals who bear the DQA1*01 alleles. The most frequently found within this group are: DQA1*0101, *0102, *0103, and *0104. In the illustration on the right, DQ1 serotyping antibodies recognizes the DQ α (magenta), where antibodies to DQA1* gene products bind variable regions close to the peptide binding pocket.
HLA-DR16(DR16) is a HLA-DR serotype that recognizes the DRB1*1601, *1602 and *1604 gene products. DR16 is found in the Mediterranean at modest frequencies. DR16 is part of the older HLA-DR2 serotype group which also contains the similar HLA-DR15 antigens.
HLA-DR11 (DR11) is a HLA-DR serotype that recognizes the DRB1*1101 to *1110. DR11 serotype is a split antigen of the older HLA-DR5 serotype group which also contains the similar HLA-DR12 antigens.
HLA-DR12(DR12) is a HLA-DR serotype that recognizes the DRB1*1201 to *1203, *1206. DR12 serotype is a split antigen of the older HLA-DR5 serotype group which also contains the similar HLA-DR11 antigens.
HLA-DR5 (DR5) is a broad-antigen serotype that is further split into HLA-DR11 and HLA-DR12 antigen serotypes.
HLA-DR4 (DR4) is an HLA-DR serotype that recognizes the DRB1*04 gene products. The DR4 serogroup is large and has a number of moderate frequency alleles spread over large regions of the world.
HLA-A9 (A9) is a broad antigen HLA-A serotype that recognized the HLA-A23 and HLA-A24 serotypes. A*2402 appears to have evolved from A*23 alleles by a process of gene conversion. The A23 is more common in Africa and regions proximal to Africa. A24 is at very high frequencies in Austronesia and certain indigenous peoples of the Arctic, North America, South America and West Pacific Rim. While it is common over most of Eurasia, it is found at low abundance in NW Europe. A24 appears to have been carried by the first colonizers of South Eastern Asia.
HLA-B78 (B78) is an HLA-B serotype. The serotype identifies the more common HLA-B*78 gene products. B78 is more common in West and North Africa, but is also scattered at low frequencies in parts of Asia.
HLA-B53 (B53) is an HLA-B serotype. The serotype identifies the more common HLA-B*53 gene products. The B53 sequence is identical to B35 but short sequence specifies a Bw4 rather than a Bw6 motif, indicating B53 is a recent product of gene conversion. This suggests an origin for HLA-B53 involving a gene conversion of HLA-B35 by an allele containing this Bw4 sequence.
HLA-B47 (B47) is an HLA–B serotype. The serotype identifies the HLA-B*47 gene products. Comparison of B47 nucleotide sequence with other HLA-B sequences shows a segment of 228 bp identical with B44 in the alpha 1 domain and a segment of 218 bp identical with B27 in the alpha 2 domain, but only a 91 bp segment of identity with B13 in the alpha 1 domain. The complex pattern of substitutions and their degree of divergence indicate that HLA-B13 and HLA-Bw47 alleles are not related by a simple mutational event. B47 is linked to a gene that causes adrenal deficiency. B47 is generally low in frequency and with highest known frequencies in Central and Western Africa.
TAP2 is a gene in humans that encodes the protein Antigen peptide transporter 2.
HLA-B7 (B7) is an HLA-B serotype. The serotype identifies the more common HLA-B*07 gene products. B7, previously HL-A7, was one of the first 'HL-A' antigens recognized, largely because of the frequency of B*0702 in Northern and Western Europe and the United States. B7 is found in two major haplotypes in Europe, where it reaches peak frequency in Ireland. One haplotype A3-B7-DR15-DQ1 can be found over a vast region and is in apparent selective disequilibrium. B7 is a risk factor for cervical cancer, sarcoidosis, and early-onset spondylarthropathies.
HLA-B51 (B51) is an HLA-B serotype. The serotype identifies the more common HLA-B*51 gene products.
HLA-B52 (B52) is an HLA-B serotype. The serotype identifies the more common HLA-B*52 gene products.
HLA-B38 (B38) is an HLA-B serotype. The serotype identifies the B*38 allele products of the HLA-B gene-locus.
HLA-B44 (B44) is an HLA-B serotype. The serotype identifies the B*44 gene-allele protein products of HLA-B.