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general/hla-dr-haplotypes

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HLA-DR53

HLA-DR53 is an HLA-DR serotype that recognizes gene products of HLA-DRB4 locus. There are 13 alleles at this locus that encode 7 proteins.

DRB3, DRB4, and DRB5 are minor DR beta encoding loci, they have been recognized as having distinct evolution. and the DRB4 locus presence is linked to HLA-DR7 seropositivity. The DRB4*locus was apparently duplicated from an ancestor of the DRB1-DRB4 common locus around 5 million years ago.

DRB4 locus is only apparent in a small subset of DQ haplotypes, and most individuals lack DRB4. In addition the level of normal expression is 8 fold lower than the DRB1 in cells which can express both. and lowered because of both transcriptional and post-transcriptional regulation.

Alleles

DR53 reactive alleles: DRB4*01:01, *01:03

Unknown reactivity: *01:02, *01:04 to *01:07

Null alleles: *01:03:01:02N, 02:01N, *03:01N

Associated diseases

DRB4*01 is positively associated with Erythema multiforme, Crohn's disease, myasthenia gravis, rheumatoid arthritis Hashimoto's thyroiditis, vitiligo, primary biliary cirrhosis, clozapine-induced agranulocytosis, Vogt–Koyanagi–Harada disease,

HLA-DRB1 linkage

HLA-DR53 serotypes (HLA-DRB4) is linked to the following HLADR serotypes (HLA-DRB1) allele groups:

HLA-DR4 - DRB1*04

HLA-DR7 - DRB1*07

HLA-DR9 - DRB1*09

References

References

  1. (1987). "Structural comparison of the genes of two HLA-DR supertypic groups: the loci encoding DRw52 and DRw53 are not truly allelic". Immunogenetics.
  2. (1991). "Genetic diversity at class II DRB loci of the primate MHC". J. Immunol..
  3. (1989). "HLA-DRB1 and -DRB4 genes are differentially regulated at the transcriptional level". J. Immunol..
  4. (1996). "Differential expression of isomorphic HLA-DR beta genes is not a sole function of transcription". Hum. Immunol..
  5. [http://www.ebi.ac.uk/imgt/hla/allele.html derived from IMGT/HLA]
  6. (1988). "Erythema multiforme is associated to HLA-Aw33 and DRw53". Tissue Antigens.
  7. (1990). "Crohn's disease in the Japanese is associated with the HLA-DRw53". Exp. Clin. Immunogenet..
  8. (1991). "HLA class II antigens and DNA restriction fragment length polymorphism in myasthenia gravis in Japan". Ann. Neurol..
  9. (1991). "Immunogenetics of rheumatoid arthritis and primary Sjögren's syndrome: DNA polymorphism of HLA class II genes". Dis. Markers.
  10. (2003). "Interactions of HLA-DRB4 and CTLA-4 genes influence thyroid function in Hashimoto's thyroiditis in Japanese population.". J Endocrinol Invest.
  11. (2001). "Linkage and association of HLA class II genes with vitiligo in a Dutch population.". Br J Dermatol.
  12. (1995). "HLA DRB4 0101-restricted immunodominant T cell autoepitope of pyruvate dehydrogenase complex in primary biliary cirrhosis: evidence of molecular mimicry in human autoimmune diseases.". J Exp Med.
  13. (1995). "The major histocompatibility complex region marked by HSP70-1 and HSP70-2 variants is associated with clozapine-induced agranulocytosis in two different ethnic groups.". Blood.
  14. (1998). "Tyrosinase epitope recognized by an HLA-DR-restricted T-cell line from a Vogt-Koyanagi-Harada disease patient.". Immunogenetics.
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