Human Leukocyte Antigen (HLA) System and Human Disorders


The major histocompatibility complex has been studied in depth because it is associated with more human disorders than any other region of comparable size in the human genome. In addition to the human leukocyte antigen (HLA) genes, the MHC contains a diverse array of polymorphic genes, many of which are involved in modulating the immune response to pathogens.

Keywords: human leucocyte antigen; major histocompatibility complex; polymorphism; autoimmunity; antigen presentation

Figure 1.

Gene map of the human MHC, showing the context and organization of the polymorphic human leukocyte antigen (HLA) gene loci.



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Further Reading

Beck S and Trowsdale J (2000) The human major histocompatibility complex: lessons from the DNA sequence. Annual Review of Genomics and Human Genetics 1: 117–137.

Cresswell P, Bangia N, Dick T and Diedrich G (1999) The nature of the MHC class I peptide loading complex. Immunology Review 172: 21–28.

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Trowsdale J (2001) Genetic and functional relationships between MHC and NK receptor genes. Immunity 15: 363–374.

Web Links

MHC‐Linked Diseases. MHC Resequencing Project

HFE (hemochromatosis); LocusID: 3077. LocusLink:

HLA‐E (major histocompatibility complex, class I, E); LocusID: 3133

MIC‐A (MHC class I polypeptide‐related sequence A); LocusID: 4276 LocusLink:

HFE (hemochromatosis); MIM number: 235200 OMIM:‐post/Omim/dispmim?235200

HLA‐E (major histocompatibility complex, class I, E); MIM number: 143010. OMIM:‐post/Omim/dispmim?143010

MIC‐A (MHC class I polypeptide‐related sequence A); MIM number: 600169. OMIM:‐post/Omim/dispmim?600169

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How to Cite close
Rhodes, David A(Sep 2005) Human Leukocyte Antigen (HLA) System and Human Disorders. In: eLS. John Wiley & Sons Ltd, Chichester. [doi: 10.1038/npg.els.0005171]