This article's lead sectionmay be too short to adequately summarize the key points. Please consider expanding the lead to provide an accessible overview of all important aspects of the article.(January 2010)
HLA-DQ1 is a serotype that covers a broad range of HLA-DQhaplotypes. Historically it was identified as a DR-like alpha chain called DC1;[1] later, it was among 3 types DQw1 (later DQ1, and split into DQ5 and DQ6), DQw2 and DQw3. Of these three serotyping specificities only DQw1 recognized DQ alpha chain.[2] 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.
Some DRB1* alleles and DQ5, DQ1, DQ6 recognition [3]
DQB1*
DQ5
DQ1
DQ6
Sample
allele
%
%
%
size (N)
0501
69
20
2
5536
0502
48
24
15
919
0503
58
22
4
1327
0504
59
17
2
48
.
DQ6
DQ1
DQ5
N
0601
64
23
675
0602
67
30
1
5151
0603
62
23
2
2807
0604
59
27
2
1592
0605
76
13
358
0609
48
32
3
149
The serotyping efficiency of DQ1 recognition relative to DQ5 and DQ6 is listed below. Since DQ1 recognizes alpha, the DQ5 and DQ6 recognition are to beta chain. Meaning that DQ1 is corecognized with DQ5 and DQ6.
The table to the left shows some of the serotyping efficiencies.
Efficient recognition of a genotyped allele approaches 100%.
Compared to DQ2 serotyping of DQB1*0201 positive individuals (98%), the efficiency of DQ1 recognition is relatively low and error prone.
For this reason DQ1 serotyping is a poor method of typing for transplantation or disease association prediction or study.
Nonetheless, it is still widely used and association purported in the literature.
DQA1*0102:DQB1*0502 has a bimodal distribution. It is found in the Philippines in high frequency and on the Mediterranean island of Sardinia.
DQA1*0102:DQB1*0602 is a very common haplotype in Eurasia, with higher frequency in central Asia relative to elsewhere. It is part of a European ancestral haplotype B7-DR15-DQ1 that appears to have expanded asymmetrically into Europe. The A3-B7-DR15-DQ1 haplotype indicates relationships in Eurasia that span from Korea to Ireland, indicating some common
ancestry in recent times.
DQA1*0102:DQB1*0604 much less frequently found but spread widely.
DQA1*0103:DQB1*0603 is part of a DR-DQ haplotype (DR13-DQ1) that increases for primary sclerosing cholangitis[22][23] The same haplotype shows a negative association with rheumatic heart disease,[24]
^Mizuki N, Ohno S, Tanaka H, et al. (1992). "Association of HLA-B51 and lack of association of class II alleles with Behçet's disease". Tissue Antigens. 40 (1): 22–30. doi:10.1111/j.1399-0039.1992.tb01953.x. PMID1359669.
^Mizuki N, Inoko H, Mizuki N, et al. (1992). "Human leukocyte antigen serologic and DNA typing of Behçet's disease and its primary association with B51". Invest. Ophthalmol. Vis. Sci. 33 (12): 3332–40. PMID1358857.
^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): 248–51. doi:10.1111/j.1399-0039.1994.tb02390.x. PMID7871526.
^Gaber SA, Mazzola G, Berrino M, et al. (1994). "Human leukocyte antigen class II polymorphisms and genetic susceptibility of IDDM in Egyptian children". Diabetes Care. 17 (11): 1341–4. doi:10.2337/diacare.17.11.1341. PMID7821177. S2CID25150033.
^Chuang LM, Jou TS, Wu HP, et al. (1995). "HLA DQA1 genotypes and its interaction with HLA DQB1 in Chinese IDDM living in Taiwan". Proc. Natl. Sci. Counc. Repub. China B. 19 (2): 73–9. PMID7624445.
^Abe KK, Michinaga I, Hiratsuka T, et al. (1995). "Association of DQB1*0302 alloantigens in Japanese pediatric patients with steroid-sensitive nephrotic syndrome". Nephron. 70 (1): 28–34. doi:10.1159/000188540. PMID7617114.
^Hjelmström P, Giscombe R, Lefvert AK, et al. (1995). "Different HLA-DQ are positively and negatively associated in Swedish patients with myasthenia gravis". Autoimmunity. 22 (1): 59–65. doi:10.3109/08916939508995300. PMID8882423.,
^Nieto A, Blanco Quirós A, Arranz E, Alonso Franch M, Garrote JA, Calvo C (1995). "Study of HLA-DQA1 alleles in celiac children". Journal of Investigational Allergology and Clinical Immunology. 5 (4): 209–15. PMID8705011.
^Saruhan-Direskeneli G, Esin S, Baykan-Kurt B, Ornek I, Vaughan R, Eraksoy M (1997). "HLA-DR and -DQ associations with multiple sclerosis in Turkey". Hum. Immunol. 55 (1): 59–65. doi:10.1016/S0198-8859(97)00086-4. PMID9328791.
^Höhler T, Gerken G, Notghi A, et al. (1997). "MHC class II genes influence the susceptibility to chronic active hepatitis C". J. Hepatol. 27 (2): 259–64. doi:10.1016/S0168-8278(97)80169-9. PMID9288598.
^Kim MH, Seong MC, Kwak NH, et al. (2000). "Association of HLA with Vogt-Koyanagi-Harada syndrome in Koreans". Am. J. Ophthalmol. 129 (2): 173–7. doi:10.1016/S0002-9394(99)00434-1. PMID10682969.
^Rani R, Fernandez-Vina MA, Zaheer SA, Beena KR, Stastny P (1993). "Study of HLA class II alleles by PCR oligotyping in leprosy patients from north India". Tissue Antigens. 42 (3): 133–7. doi:10.1111/j.1399-0039.1993.tb02179.x. PMID8284786.
^Kawahara Y, Mizuno M, Yoshino T, et al. (2005). "HLA-DQA1*0103-DQB1*0601 haplotype and Helicobacter pylori-positive gastric mucosa-associated lymphoid tissue lymphoma". Clin. Gastroenterol. Hepatol. 3 (9): 865–8. doi:10.1016/S1542-3565(05)00185-0. PMID16234023.
^Kroner BL, Goedert JJ, Blattner WA, Wilson SE, Carrington MN, Mann DL (1995). "Concordance of human leukocyte antigen haplotype-sharing, CD4 decline and AIDS in hemophilic siblings. Multicenter Hemophilia Cohort and Hemophilia Growth and Development Studies". AIDS. 9 (3): 275–80. doi:10.1097/00002030-199509030-00009. PMID7755916.
^Dong RP, Kimura A, Numano F, Nishimura Y, Sasazuki T (1992). "HLA-linked susceptibility and resistance to Takayasu arteritis". Heart and Vessels. Supplement. 7: 73–80. doi:10.1007/BF01744548. PMID1360976. S2CID22943921.
^Onishi S, Sakamaki T, Maeda T, et al. (1994). "DNA typing of HLA class II genes; DRB1*0803 increases the susceptibility of Japanese to primary biliary cirrhosis". J. Hepatol. 21 (6): 1053–60. doi:10.1016/S0168-8278(05)80617-8. PMID7699227.
^Yoshitake S, Kimura A, Okada M, Yao T, Sasazuki T (1999). "HLA class II alleles in Japanese patients with inflammatory bowel disease". Tissue Antigens. 53 (4 Pt 1): 350–8. doi:10.1034/j.1399-0039.1999.530405.x. PMID10323339.
^Olerup O, Olsson R, Hultcrantz R, Broome U (1995). "HLA-DR and HLA-DQ are not markers for rapid disease progression in primary sclerosing cholangitis". Gastroenterology. 108 (3): 870–8. doi:10.1016/0016-5085(95)90463-8. PMID7875491.
^Spurkland A, Saarinen S, Boberg KM, et al. (1999). "HLA class II haplotypes in primary sclerosing cholangitis patients from five European populations". Tissue Antigens. 53 (5): 459–69. doi:10.1034/j.1399-0039.1999.530502.x. PMID10372541.