HLA-DQ6

HLA-DQ6 (DQ6) is a human leukocyte antigen serotype within HLA-DQ (DQ) serotype group. The serotype is determined by the antibody recognition of β6 subset of DQ β-chains. The β-chain of DQ isoforms are encoded by HLA-DQB1 locus and DQ6 are encoded by the HLA-DQB1*06 allele group. This group currently contains many common alleles, DQB1*0602 is the most common. HLA-DQ6 and DQB1*06 are almost synonymous in meaning. DQ6 β-chains combine with α-chains, encoded by genetically linked HLA-DQA1 alleles, to form the cis-haplotype isoforms. For DQ6, however, cis-isoform pairing only occurs with DQ1 α-chains. There are many haplotypes of DQ6.

HLA-DQ6
Illustration of HLA-DQ with bound peptide
Polymer typeMHC Class II, DQ cell surface antigen
Cis-haplotype Haplotype
isoform subtype DQA1 DQB1
DQ α1.3β6.1 DQ6.1 *0103 *0601
DQ α1.2β6.2 DQ6.2 *0102 *0602
DQ α1.3β6.3 DQ6.3 *0103 *0603
DQ α1.2β6.4 DQ6.4 *0102 *0604
Rare haplotypes
Cis-haplotype Haplotype
isoform subtype DQA1 DQB1
DQ α1.2β6.3 DQ6.3v *0102 *0603
DQ α1.3β6.2 DQ6.2v *0103 *0602
DQ α1.2β6.9 DQ6.9 *0102 *0609

Serology
DQ6, DQ1, and DQ5 recognition of some Some DQB1* alleles[1]
DQ6 DQ1DQ5N
allele % % %size (N)
*06016423675
*0602673015151
*0603622322807
*0604592721592
*06057613358
*060948323149

Alleles
HLA DQB1*0601 frequencies
freq
ref.Population(%)
[2]Indig. Australian Cape York31.3
Indig. Australian Kimberly30.5
Nauru28.4
Fiji Viti Levu26.3
India Bombay26.3
Papua New Guinea Lowland26.0
China Guizhou Prov. Miao25.9
Papua New Guinea Madang23.1
Kiribati22.6
Japan22.0
Indonesia Nusa Tenggara19.2
India North Hindus18.7
Japan Hokkaido Wajin17.0
Uttar Pradesh Hindu15.1
PNG Lowland Wosera14.1
Western Samoa & Tokelau13.7
Pakistan Kalash13.0
India Lucknow12.9
China Wuhan12.8
South Korea (4)11.4
PNG Highland10.9
India Delhi9.0
Iran Baloch8.0
Mongolia Khalkha5.5
Lebanon Yuhmur4.3
Tunisia Ghannouch4.3
Poland Wielkopolska4.0
Mexico Mazatecans3.5
Spain E. Andalusia2.0
Italy Central1.9
France South East1.6
England Caucasoid1.1
Ireland South0.2
Italy Sardinia0.1
Brazil Guarani Kaiowa0.0
Cameroon Saa0.0

DQB1*0601

DQB1*0601 is generally linked to DQA1*0103 as 6.1 haplotype. This haplotype is more common in Japan and other parts of East Asia.

HLA DQB1*0602 frequencies
freq
ref.Population(%)
[2]Spain Pas Valley31.5
Cameroon Saa30.8
Congo Kinshasa Bantu30.0
PNG E. Highlands Goroka29.8
Siberia Ket Lower Yenisey29.4
Spain North Cabuernigo28.9
Russia Arkhangelsk Pomors24.7
Spain North Cantabrian24.7
Ireland South19.6
Belgian (2)19.4
Siberia Kushun Buryat18.0
Finland17.1
Siberia Kets Sulamai Village17.0
Poland Wielkopolska16.9
German Essen16.7
Sp. Basque Arratia Valley16.7
Denmark16.6
France Ceph15.7
Kenya14.6
England Caucasoid14.4
Sweden14.1
France Rennes13.8
Tunisia Matmata Berber11.7
Jordan Amman10.7
Japan Hokkaido Wajin10.0
Saudi A. Guraiat & Hail8.4
Japan Central8.2
Nauru8.2
Georgia Svaneti Svans8.1
France South East8.0
Ethiopia Amhara7.7
Algeria Oran7.6
Slovenia7.5
South Korea (1)7.4
Japan Fukuoka6.4
Pakistan Kalash5.8
China Xinjiang Uygur5.4
Papua New Guinea Lowland5.2
Mongolia Khalkh Ulaanbaatar4.9
Spain Murcia4.8
India Bombay4.2
Japan4.0
Greece (2)3.3
Israel Arabs2.3
Vietnam Hanoi Kinh2.0
Israel Jews1.5
Mongolia Khoton Tarialan1.2
USA Alaska Yupik Natives0.8
Mexico Mixtec Oaxaca0.5
Italy Sardinia pop20.1

DQB1*0602

DQB1*0602 is commonly linked to DQA1*0102 to form 6.2 haplotype. DQ6.2 and is common from Central Asia into Western Europe, *0602 is also linked to DQA1*0103 in parts of Asia.

HLA DQB1*0603 frequencies
freq
ref.Population(%)
[2]Georgia Svaneti Svans14.4
France West11.0
Netherlands10.6
German Essen9.2
Czech Republic9.0
Spain Murcia8.7
Slovakia8.4
Denmark8.3
India Lucknow8.3
Jordan Amman8.3
France Rennes8.1
Poland Wielkopolska8.0
Saudi Arabia Guraiat & Hail8.0
Tunisia Jerba Berber7.8
Uganda Muganda Baganda7.4
Spain North Cantabrian7.2
Finland7.1
France South6.9
China Xinjiang Uygur6.5
Russia Northwest Slavic6.0
Ireland Donegal5.3
Greece (3)5.2
Ireland Northern (2)4.9
Italy Rome4.0
CAR Aka Pygmies3.6
Lebanon Kafar Zubian3.2
Sweden2.5
Thailand2.1
China Wuhan1.7
Japan (2)1.0
South Korea (3)0.9
Malaysia0.6

DQB1*0603

DQB1*0603 is commonly linked to DQA1*0103 as 6.3 and is common from Central Asia into Western Europe, *0603 is also linked to DQA1*0102 in parts of Asia. In Europe it is most common in the Netherlands.

HLA DQB1*0604 frequencies
freq
ref.Population(%)
[2]Ethiopia Amhara10.7
Rwanda Kigali Hutu and Tutsi10.7
Ethiopia Oromo10.2
Japan8.0
Saudi Arabia Guraiat & Hail8.0
Iran Yazd Zoroastrians6.9
CAR Aka Pygmies6.5
South Korea (2)6.5
Sweden6.1
Netherlands5.6
Uganda Muganda Baganda5.3
Lebanon Niha el Shouff4.9
Denmark4.6
France Rennes4.6
Israel Gaza Palestinians3.9
China Xinjiang Uygur3.8
Algeria13.5
Russia Northwest Slavic3.5
England Caucasoid3.1
German Essen2.6
Czech Republic2.4
Greece2.0
India Delhi1.8
Nauru1.5
Finland1.4
Gambia0.7

DQB1*0604

DQB1*0604 is found at higher frequencies in parts Africa and Asia and is linked almost exclusively to DQA1*0102 as 6.4. This haplotype is found at its highest Eurasian frequencies in Japan.

HLA DQB1*0609 frequencies
freq
ref.Population(%)
[2]Rwanda Kigali Hutu & Tutsi5.7
Kenya5.3
Uganda Muganda Baganda5.3
Congo Kinshasa Bantu4.4
Gambia4.4
Mongolia Tsaatan4.2
South Korea (3)3.7
Cameroon Saa3.5
Slovenia3.0
Tunisia3.0
Zimbabwe Harare Shona2.2
Vietnam Hanoi Kinh2.0
Netherlands1.7
Saudi Arabia Guraiat & Hail1.6
Algeria Oran1.5
Greece (2)1.2
Thailand (2)1.2
Tunisia Matmata Berber1.2
Italy Rome1.0
Spain Granada0.7
Italy Bergamo0.6
Ireland South0.2
China Ürümqi Uygur0.0
USA Alaska Yupik Natives0.0

DQB1*0609

DQB1*0609 is found in Africa and proximal regions of Eurasia.

Haplotypes and disease

Susceptibility to Leptospirosis infection was found associated with undifferentiated DQ6.[3] Whereas DQ6 was protective against death (or need for liver transplantion) in primary sclerosing cholangitis.[4]

DQ6.1

DQA1*0103:DQB1*0601 (DQ6.1) is found at increased frequencies in Asia and is almost absent in Western Europe. It confers protection from narcolepsy,[5] juvenile diabetes,[6][7] Vogt-Koyanagi-Harada (VKH) syndrome,[8] pemphigus vulgaris,[9] multiple sclerosis,[10] myasthenia gravis.

DQ6.2

DQ6.2 (DQA1*0102 : DQB1*0602) is commonly linked to DR15 and as such is part of the HLA B7-DR15-DQ6 haplotype. This haplotype is considered to be the longest multigene haplotype known within the human genome as it covers over 4.7 million nucleotides. The DR15-DQ6.2 haplotype is the most common DR-DQ haplotype in Europe, and approximately 30% of Americans carry at least DQ6.2. The haplotype is even more common in Central Asia.

DQ6.2 associations with disease

For myasthenia gravis, recognition α34-49 of AChR increased with DQ6.2.[11] DQA1*0102 increases risk cervical cancer.[12][13] In multiple sclerosis DQA1*0102 was the most frequent allele and DQB1*0602 increased significantly in the MS patients.[14][15][16]

Protective effects of DQ6.2

In primary biliary cirrhosis DQ6.2 appears to have a negative association with disease.[17] DQ6.2 also appears to have a protective effect in juvenile diabetes.[18][19] DQ6.2 is also protective against infantile spasms in mestizos.[20]

DQ6.3

DQ6.3 (DQA1*0103 : DQB1*0603) is found in northcentral Europe at moderate frequencies, it is a protective against many autoimmune diseases. It also affords some protection to HIV infection.[21]

DQ6.4

DQ6.4 (DQA1*0102 : DQB1*0604) might be associated with thymoma-induced myasthenia gravis.[22]

References
  1. Allele Query Form IMGT/HLA - European Bioinformatics Institute
  2. Middleton D, Menchaca L, Rood H, Komerofsky R (2003). "New allele frequency database". Tissue Antigens. 61 (5): 403–407. doi:10.1034/j.1399-0039.2003.00062.x. PMID 12753660.
  3. Lingappa J, Kuffner T, Tappero J, et al. (May 2004). "HLA-DQ6 and ingestion of contaminated water: possible gene-environment interaction in an outbreak of Leptospirosis". Genes Immun. 5 (3): 197–202. doi:10.1038/sj.gene.6364058. PMID 15014429.
  4. Boberg KM, Spurkland A, Rocca G, et al. (August 2001). "The HLA-DR3,DQ2 heterozygous genotype is associated with an accelerated progression of primary sclerosing cholangitis". Scand. J. Gastroenterol. 36 (8): 886–890. doi:10.1080/003655201750313441. PMID 11495087.
  5. Hong SC, Lin L, Lo B, et al. (2007). "DQB1*0301 and DQB1*0601 modulate narcolepsy susceptibility in Koreans". Hum. Immunol. 68 (1): 59–68. doi:10.1016/j.humimm.2006.10.006. PMID 17207713.
  6. Sang Y, Yan C, Zhu C, Ni G (2001). "Relationship between HLA-DRB1 and DQ alleles and the genetic susceptibility to type 1 diabetes". Chin. Med. J. 114 (4): 407–9. PMID 11780465.
  7. Saruhan-Direskeneli G, Uyar FA, Bas F, et al. (2000). "HLA-DR and -DQ associations with insulin-dependent diabetes mellitus in a population of Turkey". Hum. Immunol. 61 (3): 296–302. doi:10.1016/S0198-8859(99)00182-2. PMID 10689119.
  8. Kim MH, Seong MC, Kwak NH, et al. (2000). "Association of HLA with Vogt-Koyanagi-Harada syndrome in Koreans". Am. J. Ophthalmol. 129 (2): 173–177. doi:10.1016/S0002-9394(99)00434-1. PMID 10682969.
  9. Niizeki H, Inoko H, Mizuki N, et al. (1994). "HLA-DQA1, -DQB1 and -DRB1 genotyping in Japanese pemphigus vulgaris patients by the PCR-RFLP method". Tissue Antigens. 44 (4): 248–251. doi:10.1111/j.1399-0039.1994.tb02390.x. PMID 7871526.
  10. Amirzargar A, Mytilineos J, Yousefipour A, et al. (1998). "HLA class II (DRB1, DQA1 and DQB1) associated genetic susceptibility in Iranian multiple sclerosis (MS) patients". Eur. J. Immunogenet. 25 (4): 297–301. doi:10.1046/j.1365-2370.1998.00101.x. PMID 9777330.
  11. Deitiker PR, Oshima M, Smith RG, Mosier DR, Atassi MZ (2006). "Subtle differences in HLA DQ haplotype-associated presentation of AChR alpha-chain peptides may suffice to mediate myasthenia gravis". Autoimmunity. 39 (4): 277–288. doi:10.1080/08916930600738581. PMID 16891216. S2CID 23462117.
  12. Ghaderi M, Nikitina L, Peacock CS, et al. (October 2000). "Tumor necrosis factor a-11 and DR15-DQ6 (B*0602) haplotype increase the risk for cervical intraepithelial neoplasia in human papillomavirus 16 seropositive women in Northern Sweden". Cancer Epidemiol. Biomarkers Prev. 9 (10): 1067–70. PMID 11045789.
  13. Schiff MA, Apple RJ, Lin P, Nelson JL, Wheeler CM, Becker TM (2005). "HLA alleles and risk of cervical intraepithelial neoplasia among southwestern American Indian women". Hum. Immunol. 66 (10): 1050–1056. doi:10.1016/j.humimm.2005.09.002. PMID 16386646.
  14. Kolstad A, Hannestad K, Vandvik B, Vartdal F (May 1989). "Multiple sclerosis patients have a high frequency of an HLA-DQ beta epitope defined by a human-human hybridoma antibody". Tissue Antigens. 33 (5): 546–549. doi:10.1111/j.1399-0039.1989.tb01706.x. PMID 2477915.
  15. Amirzargar AA, Tabasi A, Khosravi F, et al. (2005). "Optic neuritis, multiple sclerosis and human leukocyte antigen: results of a 4-year follow-up study". Eur. J. Neurol. 12 (1): 25–30. doi:10.1111/j.1468-1331.2004.00901.x. PMID 15613143. S2CID 11114806.
  16. Fernández O, Fernández V, Alonso A, et al. (2004). "DQB1*0602 allele shows a strong association with multiple sclerosis in patients in Malaga, Spain". J. Neurol. 251 (4): 440–444. doi:10.1007/s00415-004-0350-2. PMID 15083289. S2CID 6388921.
  17. Mullarkey ME, Stevens AM, McDonnell WM, et al. (2005). "Human leukocyte antigen class II alleles in Caucasian women with primary biliary cirrhosis". Tissue Antigens. 65 (2): 199–205. doi:10.1111/j.1399-0039.2005.00351.x. PMID 15713222.
  18. Rayner ML, Kelly MA, Mijovic CH, Barnett AH (March 2002). "Sequencing of the second exon of the MHC class II DQ6 alleles in patients with type 1 diabetes". Autoimmunity. 35 (2): 155–157. doi:10.1080/08916930290016637. PMID 12071438. S2CID 46348916.
  19. Pociot F, McDermott MF (August 2002). "Genetics of type 1 diabetes mellitus". Genes Immun. 3 (5): 235–249. doi:10.1038/sj.gene.6363875. PMID 12140742.
  20. Suastegui RA, De La Rosa G, Carranza JM, Gonzalez-Astiazaran A, Gorodezky C (February 2001). "Contribution of the MHC class II antigens to the etiology of infantile spasm in Mexican Mestizos". Epilepsia. 42 (2): 210–215. doi:10.1046/j.1528-1157.2001.22700.x. PMID 11240591.
  21. Achord AP, Lewis RE, Brackin MN, Henderson H, Cruse JM (1996). "HIV-1 disease association with HLA-DQ antigens in African Americans and Caucasians". Pathobiology. 64 (4): 204–208. doi:10.1159/000164049. PMID 9031330.
  22. Vieira M, Caillat-Zucman S, Gajdos P, Cohen-Kaminsky S, Casteur A, Bach J (1993). "Identification by genomic typing of non-DR3 HLA class II genes associated with myasthenia gravis". J Neuroimmunol. 47 (2): 115–122. doi:10.1016/0165-5728(93)90021-P. PMID 8370765. S2CID 3771373.
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