Human leukocyte antigen B (HLA-B) is a
cell-surface molecule responsible for the presentation of endogenous peptides
to cytotoxic CD8+ T cells. This presentation of peptides allows for the recognition
of pathogens, and leads to an immune reaction that destroys the infected cell.
Variations within the HLA-B gene affect which peptides the
molecule can present, but allelic changes have also been associated with
susceptibility and resistance to numerous diseases and adverse reactions to a
wide range of pharmaceuticals. Some of these pharmaceutical associations have
been well-studied, such as HLA-B*57:01 and abacavir
hypersensitivity, HLA-B*58:01 and allopurinol-induced severe
cutaneous adverse reactions (SCARs), and HLA-B*15:02 and
carbamazepine-induced Stevens-Johnson syndrome (SJS) and toxic epidermal
necrolysis (TEN). However, many other variants within the HLA-B gene
also show associations with drug phenotypes.
The VIP summary posted on PharmGKB provides background on HLA-B and its role in the immune system, as well as discussing the roles of HLA-B alleles in diseases and pharmacogenetics, with a particular focus on the *57:01, *58:01 and *15:02 alleles.
For more information, please read the entire HLA-B VIP summary and its associated variant summaries on PharmGKB.
