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The HLA system is a complex gene cluster encoding proteins vital for immune system functionality. Pharmacogenetics studies how genetic variations impact drug response, thereby aiding in the personalized treatment for various medical conditions. Within this context, HLA-A31:01 and HLA-B15:02 have been identified as risk factors for adverse drug reactions, notably cutaneous adverse reactions like Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN).
HLA-A3101 has been specifically implicated in adverse reactions to the antiepileptic drug carbamazepine. Patients with this allele have an increased risk of developing hypersensitivity reactions that can range from mild skin rashes to severe conditions such as TEN. The underlying mechanism is thought to involve the formation of a drug-peptide complex that activates cytotoxic T-cells, triggering an immune response.
HLA-B1502 is strongly associated with SJS and TEN in response to carbamazepine treatment, especially in certain Asian populations. Unlike HLA-A3101, which has a broader hypersensitivity profile, HLA-B1502’s risk is more specifically focused on severe cutaneous reactions.