HLA-DQ1

Serotypes

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.

Alleles

DQA1*0101

DQA1*0101 is commonly linked to haplotypes of DQB105, the common **DQA10101:DQB1*0501** haplotype which is part of a broader DR1-DQ1 haplotype.

DQA1*0102

DQA1*0102 is associated with both DR5 and DR6.

DQA10102:DQB10502 has a bimodal distribution. It is found in the Philippines in high frequency and on the Mediterranean island of Sardinia.

DQA10102:DQB10602 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.

DQA10102:DQB10604 much less frequently found but spread widely.

DQA1*0103

DQA1*0103 (0103) shows a negative (protective) association with many autoimmune disease, this association is apparent in Japanese studies in the 0103:DQB10601 haplotype, and in Europe with the 0103:DQB10603 haplotype, indicating the protective effect is influenced by the alpha chain of DQ. **DQA10103 is protective** against Behçet's disease, pemphigus vulgaris, juvenile diabetes, steroid-sensitive nephrotic syndrome, myasthenia gravis coeliac disease multiple sclerosis, chronic active hepatitis C, and Vogt–Koyanagi–Harada syndrome. However, it may predispose carriers to chronic infection such as leprosy, Helicobacter pylori-positive gastric lymphoma, and AIDS.

DQA10103:DQB10601 is part of a multigene haplotype (DRB11502:DRB50102:DQA10103:DQB10601:DPA102:DPB10901) linked to Takayasu's arteritis in Japanese. Another haplotype, DR8-DQ1 which contains this haplotype may be associated with primary biliary cirrhosis, Graves' disease There is a negative association of this DR15-DQ1 haplotype in Japanese with inflammatory bowel disease.

DQA10103:DQB10603 is part of a DR-DQ haplotype (DR13-DQ1) that increases for primary sclerosing cholangitis The same haplotype shows a negative association with rheumatic heart disease,

DQA1*0104

DQA10104:DQB10503 is part of a multigene haplotype DR14-DQ5 that is associated with MuSK positive Myasthenia gravis.

References

References

1. (1983). "Sequences related to HLA-DR alpha chain on human chromosome 6: restriction enzyme polymorphism detected with DC alpha chain probes". Proc. Natl. Acad. Sci. U.S.A..
2. (1985). "Implication of structural class II gene polymorphism for the concept of serologic specificities". Immunol. Rev..
3. [http://www.ebi.ac.uk/imgt/hla/allele.html derived from IMGT/HLA]
4. Mizuki N. (1992). "Association of HLA-B51 and lack of association of class II alleles with Behçet's disease". Tissue Antigens.
5. Mizuki N. (1992). "Human leukocyte antigen serologic and DNA typing of Behçet's disease and its primary association with B51". Invest. Ophthalmol. Vis. Sci..
6. Niizeki H. (1994). "HLA-DQA1, -DQB1 and -DRB1 genotyping in Japanese pemphigus vulgaris patients by the PCR-RFLP method". Tissue Antigens.
7. Gaber SA. (1994). "Human leukocyte antigen class II polymorphisms and genetic susceptibility of IDDM in Egyptian children". Diabetes Care.
8. Chuang LM. (1995). "HLA DQA1 genotypes and its interaction with HLA DQB1 in Chinese IDDM living in Taiwan". Proc. Natl. Sci. Counc. Repub. China B.
9. Abe KK. (1995). "Association of DQB1*0302 alloantigens in Japanese pediatric patients with steroid-sensitive nephrotic syndrome". Nephron.
10. Hjelmström P. (1995). "Different HLA-DQ are positively and negatively associated in Swedish patients with myasthenia gravis". Autoimmunity.
11. (1995). "Study of HLA-DQA1 alleles in celiac children". Journal of Investigational Allergology and Clinical Immunology.
12. (1997). "HLA-DR and -DQ associations with multiple sclerosis in Turkey". Hum. Immunol..
13. Höhler T. (1997). "MHC class II genes influence the susceptibility to chronic active hepatitis C". J. Hepatol..
14. Kim MH. (2000). "Association of HLA with Vogt-Koyanagi-Harada syndrome in Koreans". Am. J. Ophthalmol..
15. (1993). "Study of HLA class II alleles by PCR oligotyping in leprosy patients from north India". Tissue Antigens.
16. Kawahara Y. (2005). "HLA-DQA10103-DQB10601 haplotype and Helicobacter pylori-positive gastric mucosa-associated lymphoid tissue lymphoma". Clin. Gastroenterol. Hepatol..
17. (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.
18. (1992). "HLA-linked susceptibility and resistance to Takayasu arteritis". Heart and Vessels. Supplement.
19. Onishi S. (1994). "DNA typing of HLA class II genes; DRB1*0803 increases the susceptibility of Japanese to primary biliary cirrhosis". J. Hepatol..
20. (1994). "HLA class II alleles in Japanese patients with Graves' disease: weak associations of HLA-DR and -DQ". Endocr. J..
21. (1999). "HLA class II alleles in Japanese patients with inflammatory bowel disease". Tissue Antigens.
22. (1995). "HLA-DR and HLA-DQ are not markers for rapid disease progression in primary sclerosing cholangitis". Gastroenterology.
23. Spurkland A. (1999). "HLA class II haplotypes in primary sclerosing cholangitis patients from five European populations". Tissue Antigens.
24. Guédez Y. (1999). "HLA class II associations with rheumatic heart disease are more evident and consistent among clinically homogeneous patients". Circulation.