HLA-A2

HLA-A2
(MHC Class I, A cell surface antigen)
Rendering of 2git: α (A*0201 gene product), β2-microglobulin, and HIV peptide.
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Protein transmembrane receptor/ligand
Structure αβ heterodimer
Subunits HLA-A*02--, β2-microglobulin
Older names "HL-A2"
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subtype allele Available structures
A2.1 *0201 3hla, 2gj6, 2git, 2clr, 2bsv, 2c7u, 2bsu, 2av1, 2av7, 1tvb, 1tvh, 1s8d, 1s9w, 1s9x, 1s9y, 1t1w, 1t1x, 1t1y, 1t1z, 1t20, 1t21, 1t22, 1qse, 1qr1, 1qrn, 1p7q, 1jf1, 1jht, 1i1f, 1i1y, 1i4f, 1i7r, 1i7t, 1i7u, 1im3, 1akj, 1ao7, 1b0g, 1b0r, 1bd2, 1duy, 1duz, 1eey, 1eez, 1hhg, 1hhh, 1hhi, 1hhj, 1hhk, 1hla
A2.2F *0202
A2.3, A203 *0203
A2.2Y *0205
A2.4a *0206
rare alleles
A2.4 *0204
A2.4b *0207
A2.5 *0211
Alleles link-out to IMGT/HLA database at EBI

HLA-A2 (A2) is a human leukocyte antigen serotype within HLA-A "A" serotype group. The serotype is determined by the antibody recognition of α2 subset of HLA-A α-chains. For A2, the alpha "A" chain are encoded by the HLA-A*02 allele group and the β-chain are encoded by B2M locus.[1] A2 and A*02 are almost synonymous in meaning. A2 is more common in Northern Asia and North America than elsewhere, and it is part of a several long haplotypes.

The serotype identifies the gene products of many HLA-A*02 alleles, including HLA-A*0201, *0202, *0203, *0206, and *0207 gene products. A*02 is globally common, but A*0201 is at high frequencies in Northern Asia and North America. A2 is the most diverse serotype, showing diversity in Eastern Africa and Southwest Asia. While the frequency of A*0201 in Northern Asia is high, its diversity is limited to A*0201 the less common Asian variants A*0203, A*0206.

Contents

Serotype

A2 recognition of some HLA A*02 gene products[2]
A*02 A2 Sample
allele  % size (N)
*0201 98 6315
*0202 81  859
*0203 64  472
*0205 81  462
*0206 68  636
*0207 80  135
*0211 74  228

The serotyping for the most abundant A*02 alleles is good. For A*0203, A*0206, A*0207 serotyping is borderline useful. There is a separate serotyping for A203 and A210. There are over 125 alleles identified (mostly by sequence homology) as being A2, of those 8 are nulls, and a large majority have unknown serotypes.

Disease Associations

A2 Associated with spontaneous abortion in A2+/A[other] phenotypic children[3]

By haplotype

A*02:Cw*16 is associated with increased higher viral load in HIV[4]


Alleles

HLA A*0201 frequencies
 Study population  Freq.
 (in %)[5]
 Mexico Sonora Seri   54.5
 USA Arizona Pima   43.6
 USA New Mexico Canoncito …   37.8
 Finland   34.4
 Mexico Mestizos   34.1
 Georgia Tibilisi Georgian…   31.0
 Bulgaria   30.0
 Philippines Ivatan   30.0
 Spain Catalonia Girona   29.9
 USA South Dakota Lakota S…   29.7
 Portugal North   29.3
 Italy North pop 1   28.9
 Mexico Zaptotec Oaxaca   28.4
 Italy Bergamo   28.0
 Czech Republic   27.4
 Ireland Northern   27.4
 USA Caucasian (2)   27.2
 Spain Basque Gipuzkoa Pro…   27.0
 Belgium   26.6
 Croatia   26.3
 Australia New South Wales   26.1
 Portugal Centre   26.0
 Turkey (1)   25.7
 Mexico Chihuahua State Ta…   25.0
 Romanian   25.0
 Ireland South   24.6
 Mexico Guadalajara Mestiz…   22.3
 China Tibet   21.8
 USA North American Native…   21.7
 USA South Texas Hispanics   21.7
 Oman   21.6
 Venezuela Perja Mountain …   21.6
 Georgia Svaneti Svans   21.3
 Brazil Terena   20.8
 Iran Baloch   20.2
 Japan Ainu Hokkaido   20.0
 Brazil   19.2
 China Beijing   18.7
 Uganda Kampala   18.4
 Morocco Nador Berber   17.8
 Australia Indig. Cape Yor…   17.5
 Tunisia   17.5
 Sudanese   17.3
 South Korea (3)   16.5
 Mongolia Buriat   14.3
 Burkina Faso Rimaibe   13.8
 Jordan Amman   13.4
 Zambia Lusaka   12.8
 USA African Americans (3)   12.1
 Japan (3)   11.6
 India Tamil Nadu Nadar   10.7
 Japan Okinawa Ryukuan   10.2
 Zimbabwe Harare Shona   9.1
 Ecuador Cayapa   9.0
 Kenya   8.7
 Georgia Tibilisi Kurds   8.3
 Mali Bandiagara   8.3
 Senegal Niokholo Mandenka   8.1
 Cameroon Yaounde   7.1
 Singapore Riau Malay   6.5
 India North Hindus   5.8
 Taiwan Hakka   5.5
 Taiwan Pazeh   5.5
 China South Han   5.3
 Burkina Faso Fulani   5.1
 Sri Lanka Colombo Sinhale…   4.9
 China Guangxi Maonan   4.6
 Singapore Javanese Indone…   4.0
 Taiwan Paiwan   3.9
 India Andhra Pradesh Goll…   3.4
 Singapore Thai   3.1
 Taiwan Rukai   3.0
 Taiwan Tsou   2.9
 Pakistan Karachi Parsi   2.8
 Taiwan Ami   2.6
 South Africian Natal Zulu   2.5
 New Caledonia   2.4
 USA Alaska Yupik Natives   2.4
 PNG Wanigela   2.1
 Taiwan Puyuma   2.0
 Taiwan Tao   2.0
 India Mumbai Marathas   1.9
 Thailand   1.8
 South Africa Natal Tamil   1.0
Allele frequencies presented, only
HLA A*0202 frequencies
 Study population  Freq.
 (in %)[5]
 Cameroon Bamileke   10.4
 Senegal Niokholo Mandenka   9.1
 Cameroon Yaounde   8.2
 Mali Bandiagara   7.6
 Guinea Bissau   6.2
 Cameroon Beti   6.0
 Burkina Faso Rimaibe   5.3
 Kenya   4.9
 Georgia Svaneti Svans   3.8
 USA African Americans (2)   3.7
 Zimbabwe Harare Shona   3.6
 South Africian Natal Zulu   3.5
 Uganda Kampala   3.4
 Saudi Arabia Guraiat and …   2.4
 Pakistan Brahui   2.3
 Zambia Lusaka   2.3
 Israel Arab Druse   2.0
 Sudanese   1.8
 India North Delhi   1.7
 Pakistan Karachi Parsi   1.7
 China Qinghai Hui   1.4
 Portugal North   1.1
 Georgia Tibilisi Georgian…   1.0
 Tunisia   1.0
Allele frequencies presented, only
HLA A*0203 frequencies
 Study population  Freq.
 (in %)[5]
 China Guangxi Maonan   17.6
 China Yunnan Lisu   15.2
 Thailand Northeast   12.2
 China South Han   10.8
 China Guangzhou   9.8
 Singapore Javanese Indone…   9.0
 China Yunnan Nu   8.2
 Thailand   7.7
 Taiwan Minnan pop 1   6.4
 Taiwan Puyuma   6.0
 Taiwan Siraya   5.9
 Singapore Riau Malay   5.2
 India Khandesh Pawra   5.0
 India West Bhils   5.0
 Taiwan Pazeh   4.5
 USA Asian   4.2
 India Mumbai Marathas   3.7
 Taiwan Hakka   3.6
 China North Han   2.4
 Sri Lanka Colombo Sinhale…   2.4
 China Qinghai Hui   2.3
 Burkina Faso Rimaibe   1.1
 Taiwan Saisiat   1.0
Allele frequencies presented, only
HLA A*0205 frequencies
 Study population  Freq.
 (in %)[5]
 Burkina Faso Fulani   9.2
 Kenya Nandi   8.7
 Sudanese   6.5
 Saudi Arabia Guraiat and …   6.1
 Italy North (1)   5.8
 South Africian Natal Zulu   5.5
 Cameroon Pygmy Baka   5.0
 Georgia Tibilisi Kurds   5.0
 Burkina Faso Rimaibe   4.3
 Israel Arab Druse   4.0
 Cameroon Sawa   3.8
 Turkey (1)   3.5
 Mongolia Buriat   3.2
 Zimbabwe Harare Shona   3.1
 India New Delhi   3.0
 USA African America   3.0
 Bulgaria   2.7
 Cameroon Bamileke   2.6
 Kenya Luo   2.6
 Pakistan Sindhi   2.5
 Tunisia   2.5
 Cuban Mulatto   2.4
 Czech Republic   2.4
 Spain Catalonia Girona   2.3
 Cameroon Yaounde   2.2
 Mali Bandiagara   2.2
 Uganda Kampala   2.2
 Italy Bergamo   2.1
 Oman   2.1
 USA African Americans (2)   1.7
 China North Han   1.4
 Georgia Tibilisi Georgian…   1.4
 Kenya   1.4
 Ireland Northern   1.2
 Cameroon Beti   1.1
 India North Delhi   1.1
 Senegal Niokholo Mandenka   1.1
 USA Caucasians (3)   1.1
 India North Hindus   1.0
 Mexico Mixtec Oaxaca   1.0
 Portugal Centre   1.0
 Spain Basque Gipuzkoa Pro…   1.0
Allele frequencies presented, only


HLA A*0206 frequencies
 Study population  Freq.
 (in %)[5]
 Mexico Mixe Oaxaca   34.9
 Mexico Zaptotec Oaxaca   26.1
 Mexico Mixtec Oaxaca   21.6
 Pakistan Kalash   21.6
 Japan Ainu Hokkaido   20.0
 Japan Okinawa Ryukuan   18.3
 USA Alaska Yupik Natives   16.5
 USA Hawaii Okinawa   14.3
 American Samoa   13.0
 Mexico Chihuahua State Ta…   12.5
 Taiwan Puyuma   12.0
 USA South Dakota Lakota S…   10.5
 Taiwan Atayal   9.4
 Japan pop3   8.7
 Japan pop5   8.4
 India North Delhi   7.7
 Japan Central   7.7
 USA Arizona Pima   7.6
 Taiwan Bunun   7.4
 USA South Texas Hispanics   7.3
 USA North American Native…   7.2
 China North Han   7.1
 South Korea pop 3   7.1
 Russia Tuva pop 2   6.9
 Mexico Mestizos   6.1
 Pakistan Burusho   6.0
 Taiwan Taroko   5.5
 Singapore Chinese Han   5.2
 USA Asian   5.0
 USA New Mexico Canoncito …   4.9
 China Beijing   4.8
 China Beijing Shijiazhuan…   4.7
 Hong Kong Chinese   4.7
 China Guangxi Maonan   4.6
 Mongolia Buriat   4.3
 China Guangzhou   4.0
 Philippines Ivatan   4.0
 Singapore Chinese   4.0
 Taiwan Pazeh   3.6
 China South Han   3.5
 Taiwan Thao   3.3
 Pakistan Sindhi   3.2
 USA Hispanic   3.2
 Pakistan Pathan   3.1
 India New Delhi   3.0
 Taiwan Rukai   3.0
 India North Hindus   2.9
 Taiwan Minnan pop 1   2.9
 Taiwan Paiwan   2.9
 India Andhra Pradesh Goll…   2.8
 Taiwan Hakka   2.7
 Papua New Guinea Eastern …   2.6
 Thailand   2.5
 Sri Lanka Colombo Sinhale…   2.4
 Pakistan Brahui   2.3
 Papua New Guinea Wanigela   2.1
 Singapore Javanese Indone…   2.0
 Singapore Riau Malay   2.0
 Singapore Thai   2.0
 Taiwan Saisiat   2.0
 Taiwan Siraya   2.0
 Pakistan Baloch   1.6
 Taiwan Ami   1.5
 Zambia Lusaka   1.2
 Iran Baloch   1.1
 Pakistan Karachi Parsi   1.1
Allele frequencies presented, only
HLA A*0207 frequencies
 Study population  Freq.
 (in %)[5]
 Thailand Northeast   15.7
 China Guangxi Maonan   13.4
 Hong Kong Chinese   13.1
 Singapore Chinese   13.1
 Singapore Thai   12.2
 Singapore Chinese Han   11.6
 Taiwan Minnan pop 1   11.3
 Thailand   10.9
 China South Han   9.4
 China Guangzhou   9.3
 China Yunnan Nu   8.2
 Taiwan Hakka   8.2
 Taiwan Siraya   6.9
 China Beijing   6.7
 USA Asian   6.6
 Taiwan Pazeh   6.4
 China North Han   4.3
 China Qinghai Hui   3.6
 Japan (3)   3.4
 South Korea (3)   3.0
 China Inner Mongolia   2.5
 China Yunnan Lisu   2.2
 Mongolia Buriat   2.1
 Singapore Riau Malay   2.0
 Taiwan Thao   1.7
 China Tibet Autonomous Re…   1.6
 Russia Tuva pop 2   1.6
 USA Hawaii Okinawa   1.4
 Burkina Faso Fulani   1.0
 Japan Ainu Hokkaido   1.0
 Singapore Javanese Indone…   1.0
Allele frequencies presented, only
HLA A*0211 frequencies
 Study population  Freq.
 (in %)[5]
 India Khandesh Pawra   16.0
 South Africa Natal Tamil   13.0
 India Andhra Pradesh Goll…   9.7
 India Mumbai Marathas   8.6
 Sri Lanka Colombo Sinhale…   7.4
 India North Hindus   6.7
 Ecuador Cayapa   4.8
 India West Bhils   4.0
 Pakistan Sindhi   2.5
 Pakistan Brahui   2.3
 Pakistan Pathan   2.0
 Singapore Javanese Indone…   2.0
 India North Delhi   1.7
 Pakistan Baloch   1.6
 Singapore Riau Malay   1.2
 Iran Baloch   1.1
 Pakistan Burusho   1.1
Allele frequencies presented, only


A2-B Haplotypes

A2-B7 (Node in Netherlands) A2-B5

A2-B8
A2-B13
A2-B14

A2-B15

A2-B16

A2-B18
A2-B27
A2-B35
A2-B37 A2-B39 (Node in North American Amerinds)
A2-B40

A2-B46

A2-Cw5-B44

HLA A2-B44 haplotype frequencies
freq Rank in
ref. Population (%) Pop.
[6] Cornish 11.4 1 1
[7] Ireland 9.2 2
[8] Northern Ireland 8.0 1 2
[6] Sweden 7.2 2
[9] Swiss 6.9 2
[6] Polish 6.2 1
[6] Spanish 5.9 1
[6] Ukraine 5.9 1
[10] Dutch Netherlands 5.9 3
[6] Dane 4.8 1
[6] Czech 4.7 3
[6] Basque 4.7 3
[6] Greek 4.5 3
[6] Yugoslavian 4.4
[6] Hungarian 3.5
[6] British 2.6 4
[1] Romania 2.5
[6] Austria 2.4
1Cw*0501 (Eur.)

A2-Cw5-B44 is the multi-serotype designation for the haplotype HLA-A*0201:C*0501:B*4402, the class I portion, of an ancetral haplotype (A2-B44-DR4-DQ8). The full haplotype is (for relative distances see Human leukocyte antigens:

A*0201 : C*0501 : B*4402 : DRB1*0401 : DQA1*0301 : DQB1*0302

Another haplotype that is more common in Central Europe is the (A2-B44-DR7-DQ2)

A*0201 : C*0501 : B*4402 : DRB1*0701 : DQA1*0201 : DQB1*0202

Over northwestern Europe A2-B44 shows a single common ancestor which contributed the Cw5 allele to the haplotype. The haplotype appears to have been introduced early in European prehistoric period, frequencies of the haplotype generally correlate with A1-Cw7-B8 and A2-B7. The haplotype is considerably more equilibrated relative to A1-B8 and a possible reason is gene flow from iberia or the east with related haplotypes after initial migrations.

References

  1. ^ Arce-Gomez B, Jones EA, Barnstable CJ, Solomon E, Bodmer WF (February 1978). "The genetic control of HLA-A and B antigens in somatic cell hybrids: requirement for beta2 microglobulin". Tissue Antigens 11 (2): 96–112. doi:10.1111/j.1399-0039.1978.tb01233.x. PMID 77067. 
  2. ^ Allele Query Form IMGT/HLA - European Bioinformatics Institute
  3. ^ Komlos L, Klein T, Korostishevsky M (2007). "HLA-A2 class I antigens in couples with recurrent spontaneous abortions". Int. J. Immunogenet. 34 (4): 241–6. doi:10.1111/j.1744-313X.2007.00682.x. PMID 17627758. 
  4. ^ Tang J, Tang S, Lobashevsky E, Myracle A, Fideli U, Aldrovandi G, Allen S, Musonda R, Kaslow R (2002). "Favorable and unfavorable HLA class I alleles and haplotypes in Zambians predominantly infected with clade C human immunodeficiency virus type 1.". J Virol 76 (16): 8276–84. doi:10.1128/JVI.76.16.8276-8284.2002. PMC 155130. PMID 12134033. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=155130. 
  5. ^ a b c d e f g 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. 
  6. ^ a b c d e f g h i j k l m Sasazuki, Takehiko; Tsuji, Kimiyoshi; Aizawa, Miki (1992). HLA 1991: proceedings of the eleventh International Histocompatibility Workshop and Conference, held in Yokohama, Japan, 6-13 November, 1991. Oxford [Oxfordshire]: Oxford University Press. ISBN 0-19-262390-7. 
  7. ^ Finch T, Lawlor E, Borton M, Barnes C, McNamara S, O'Riordan J, McCann S, Darke C (1997). "Distribution of HLA-A, B and DR genes and haplotypes in the Irish population.". Exp Clin Immunogenet 14 (4): 250–63. PMID 9523161. 
  8. ^ Middleton D, Williams F, Hamill M, Meenagh A (2000). "Frequency of HLA-B alleles in a Caucasoid population determined by a two-stage PCR-SSOP typing strategy.". Hum Immunol 61 (12): 1285–97. doi:10.1016/S0198-8859(00)00186-5. PMID 11163085. 
  9. ^ Grundschober C, Sanchez-Mazas A, Excoffier L, Langaney A, Jeannet M, Tiercy J (1994). "HLA-DPB1 DNA polymorphism in the Swiss population: linkage disequilibrium with other HLA loci and population genetic affinities.". Eur J Immunogenet 21 (3): 143–57. doi:10.1111/j.1744-313X.1994.tb00186.x. PMID 9098428. 
  10. ^ Schipper R, Schreuder G, D'Amaro J, Oudshoorn M (1996). "HLA gene and haplotype frequencies in Dutch blood donors.". Tissue Antigens 48 (5): 562–74. doi:10.1111/j.1399-0039.1996.tb02670.x. PMID 8988539.