rs41303343

This is a frameshift variant in the CYP3A5 gene.

Key Literature Trait Associations

Tacrolimus Metabolism

CYP3A5*7 is a frameshift insertion in exon 11 that causes complete loss of CYP3A5 function. It is found almost exclusively in African populations (8-10% allele frequency). Along with *3 and *6, *7 genotyping is important for accurate CYP3A5 phenotype assignment and tacrolimus dose optimization in diverse populations.

Birdwell KA et al. “Clinical Pharmacogenetics Implementation Consortium (CPIC) Guidelines for CYP3A5 Genotype and Tacrolimus Dosing.” Clinical Pharmacology and Therapeutics 98(1):19-24 (2015)
Allele ins
OR —
p —
Candidate gene study
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Research that mentions this SNP (1)

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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
PubMedDOIMetascience Observatory

Gene information from NCBI Gene. Variant classifications from ClinVar.

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