HLA/Disease association

In studying genetic association to various diseases, the HLA system often stands out as having the most prominent indexes of association.

JA Traherne points out the subtleties of genetic information one would do well to take into account to understand the relationship of the HLA to the various diseases it is associated to. In particular he brings to our attention the following phenomena:

• Genetic variation in coding regions not affecting the peptide-binding groove, such as those coding for the cytoplasmic tale of the molecule, which could affect how the HLA molecule is exported to the cell surface.
• Genetic variation that involves regulatory regions and modifies the level of expression.
• Genetic variation that affects alternative splicing.

Diseases that have been linked to the HLA system

Special:PrefixIndex/HLA/Disease association/

Pharmacogenomics

For a general review see:

• Carbamazepine: Strong predisposition to Stevens-Johnson syndrome and toxic epidermal necrolysis in Chinese individuals who carry the allele B*15:02:01. An HLA association is not seen clearly in other ethnic groups.
• Allopurinol: Predisposition to Stevens-Johnson syndrome and toxic epidermal necrolysis in Asian individuals who carry the allele B*58:01:01.
• Abacavir: Association with drug hypersensitivity in British and Australian individuals carrying B*57:01:01.

Other associations

Apart from these associations, the MHC has been linked to other biological phenomena such as:

• Mate choice.