Korean J Intern Med.  2018 Sep;33(5):867-875. 10.3904/kjim.2018.126.

Genetic markers of severe cutaneous adverse reactions

• Jung JW
• Kim JY
• Park IW
• Choi BW
• Kang HR

• KMID: 2419997
• DOI: http://doi.org/10.3904/kjim.2018.126

Abstract

Adverse drug reactions can cause considerable discomfort. They can be life-threatening in severe cases, requiring or prolonging hospitalization, impeding proper treatment, and increasing treatment costs considerably. Although the incidence of severe cutaneous adverse reactions (SCARs) is low, they can be serious, have permanent sequelae, or lead to death. A recent pharmacogenomic study confirmed that genetic factors can predispose an individual to SCARs. Genetic markers enable not only elucidation of the pathogenesis of SCARs, but also screening of susceptible subjects. The human leukocyte antigen (HLA) genotypes associated with SCARs include HLA-B*57:01 for abacavir (Caucasians), HLA-B*58:01 for allopurinol (Asians), HLA-B*15:02 (Han Chinese) and HLA-A*31:01 (Europeans and Koreans) for carbamazepine, HLA-B*59:01 for methazolamide (Koreans and Japanese), and HLA-B*13:01 for dapsone (Asians). Therefore, prescreening genetic testing could prevent severe drug hypersensitivity reactions. Large-scale epidemiologic studies are required to demonstrate the usefulness and cost-effectiveness of screening tests because their efficacy is affected by the genetic differences among ethnicities.

Keyword

Stevens-Johnson syndrome; Drug hypersensitivity syndrome; Pharmacogenetics; HLA antigens

MeSH Terms

Allopurinol
Carbamazepine
Cicatrix
Dapsone
Drug Hypersensitivity
Drug Hypersensitivity Syndrome
Drug-Related Side Effects and Adverse Reactions
Epidemiologic Studies
Genetic Markers*
Genetic Testing
Genotype
Health Care Costs
HLA Antigens
Hospitalization
Humans
Incidence
Leukocytes
Mass Screening
Methazolamide
Pharmacogenetics
Stevens-Johnson Syndrome
Allopurinol
Carbamazepine
Dapsone
Genetic Markers
HLA Antigens
Methazolamide