An update of the HLA genomic region, locus information and disease associations: 2004

Tissue Antigens. 2004 Dec;64(6):631-49. doi: 10.1111/j.1399-0039.2004.00327.x.


The human major histocompatibility (MHC) genomic region at chromosomal position 6p21 encodes the six classical transplantation HLA genes and many other genes that have important roles in the regulation of the immune system as well as in some fundamental cellular processes. This small segment of the human genome has been associated with more than 100 diseases, including common diseases--such as diabetes, rheumatoid arthritis, psoriasis, asthma and various autoimmune disorders. The MHC 3.6 Mb genomic sequence was first reported in 1999 with the annotation of 224 gene loci. The locus and allelic information of the MHC continue to be updated by identifying newly mapped expressed genes and pseudogenes based on comparative genomics, SNP analysis and cDNA projects. Since 1999, new innovations in bioinformatics and gene-specific functional databases and studies on the MHC genes have resulted in numerous changes to gene names and better ways to update and link the MHC gene symbols, names and sequences together with function, variation and disease associations. In this study, we present a brief overview of the MHC genomic structure and the recent information that we have gathered on the MHC gene loci via LocusLink at the National Centre for Biological Information ( and the MHC genes' association with various diseases taken from publications and records in public databases, such as the Online Mendelian Inheritance in Man and the Genetic Association Database.

Publication types

  • Review

MeSH terms

  • Computational Biology
  • Databases, Genetic*
  • Genetic Predisposition to Disease
  • Genome, Human*
  • HLA Antigens / classification*
  • HLA Antigens / genetics*
  • Humans
  • Polymorphism, Genetic
  • Sequence Alignment


  • HLA Antigens