rs28399499
This is a missense variant in the CYP2B6 gene.
Key Literature Trait Associations
Efavirenz Metabolism
CYP2B6*18 carries an I328T substitution causing near-complete loss of CYP2B6 function. It is found primarily in African populations (4-8% allele frequency) and is the most severe loss-of-function CYP2B6 allele known. This variant contributes significantly to efavirenz toxicity risk in sub-Saharan Africa, where efavirenz remains a common component of first-line HIV treatment regimens.
▶ClinVar annotation
nevirapine response - Toxicity; CYP2B6-related disorder
View on ClinVar →▶Research that mentions this SNP (3)
▶HCP5 genetic variant (RS3099844) contributes to Nevirapine-induced Stevens Johnsons Syndrome/Toxic Epidermal Necrolysis susceptibility in a population from MozambiqueAssociationN=103Paola Borgiani et al.(2014)· European Journal of Clinical Pharmacology
This case-control study examines the association between HCP5 and PSORS1C1 genetic variants and nevirapine-induced Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis (SJS/TEN) in 27 patients and 76 controls from Mozambique. The HCP5 rs3099844 variant allele was significantly associated with SJS/TEN susceptibility (OR=2.03, P=0.039), and the TA haplotype carrying both variant alleles showed higher risk (OR=3.44, P=0.003), with evidence of gene-gene interaction between HCP5 and PSORS1C1.
▶Interindividual Variability in the Hepatic Expression of the Human Breast Cancer Resistance Protein (BCRP/ABCG2): Effect of Age, Sex, and GenotypeAssociationN=1,000Bhagwat Prasad et al.(2013)· Journal of Pharmaceutical Sciences
Case-control study of 1,000 Han Chinese individuals (450 epilepsy cases, 550 controls) examining associations between STX1B polymorphisms and epilepsy treatment response. The rs140820592 variant showed significant association with reduced epilepsy risk (OR=0.542, p=0.004) and drug-resistant epilepsy risk (OR=0.260, p=0.004), with eQTL analysis confirming rs140820592 regulates STX1B expression in brain tissues.
▶Limited use of interleukin 28B in the setting of response-guided treatment with detailed on-treatment virological monitoringReviewAlessandra Mangia et al.(2011)· Hepatology
This is a special issue of the Italian medical journal BeAdfiles (September 2012) dedicated to genetic conditioning in HIV and hepatitis virus infections. It reviews the major genetic polymorphisms that influence disease progression, treatment response, and drug toxicity in HIV and chronic hepatitis B and C infections, with particular emphasis on IL28B polymorphisms (rs809917 and others) predicting HCV treatment response to interferon-alpha and ribavirin therapy, and ITPA gene variants protecting against ribavirin-induced anemia. The issue also covers pharmacogenetic markers (CYP2B6, ABCB1, HLA-B*5701) and their clinical applications in antiretroviral therapy.
Gene information from NCBI Gene. Variant classifications from ClinVar.
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