rs2279343

This is a missense variant in the CYP2B6 gene.

Key Literature Trait Associations

Efavirenz Metabolism

CYP2B6*4 carries a K262R substitution associated with increased CYP2B6 enzymatic activity. Rapid metabolizers carrying this variant may achieve sub-therapeutic efavirenz plasma levels with standard dosing, potentially compromising HIV viral suppression. This variant is also relevant for bupropion and cyclophosphamide metabolism.

Wackernah RC et al. “Alcohol use disorder: pathophysiology, effects, and pharmacologic options for treatment.” Substance Abuse and Rehabilitation 5:1 (2014)

Allele G

OR —

p —

Candidate gene study

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GWAS Catalog Trait Associations (2)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

Mastocytosis

Nedoszytko B et al. “Results from a Genome-Wide Association Study (GWAS) in Mastocytosis Reveal New Gene Polymorphisms Associated with WHO Subgroups.” International Journal of Molecular Sciences 21(15) (2020)

Allele G

OR —

β 0.280

p 4.0e-15

N 5,840

Large GWAS

European

cutaneous mastocytosis

Allele G

OR —

β 0.181

p 6.0e-13

N 5,747

Large GWAS

European

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ClinVar annotation

Benign★★★☆

5 submitters3 publications

Efavirenz response; CYP2B6-related disorder; not provided

View on ClinVar →

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Research that mentions this SNP (2)

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Effects of CYP2B6 genetic polymorphisms in patients receiving cyclophosphamide combination chemotherapy for breast cancer

AssociationN=145Haroun F. et al.(2015)· Cancer Chemotherapy and Pharmacology

This pharmacogenetic study examined three CYP2B6 polymorphisms (rs2279343, rs3211371, rs3745274) in 145 Lebanese breast cancer patients receiving cyclophosphamide (CP) chemotherapy. While no significant associations were found with hematological toxicity, homozygous CYP2B6 variant haplotypes were associated with significantly shorter time-to-recurrence in a subset of 38 patients with relapsed disease. However, results were limited by small sample size (only 3 homozygous mutant patients) and the authors concluded current evidence is insufficient to justify routine CYP2B6 genotyping for CP dosing or toxicity prediction.

Traits studied:Breast cancer chemotherapy toxicityCyclophosphamide efficacyCyclophosphamide-associated myelotoxicityDisease recurrenceHematological toxicity

PubMed DOI Metascience Observatory

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Interindividual Variability in the Hepatic Expression of the Human Breast Cancer Resistance Protein (BCRP/ABCG2): Effect of Age, Sex, and Genotype

AssociationN=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.

Traits studied:Drug-resistant epilepsyDrug-responsive epilepsyEpilepsyImatinib response in chronic myelogenous leukemiaPraziquantel responseTacrolimus metabolism

rs2279343

Key Literature Trait Associations

Efavirenz Metabolism

GWAS Catalog Trait Associations (2)

Mastocytosis

cutaneous mastocytosis

ClinVar annotation

Research that mentions this SNP (2)

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