Sequence diversity in CYP3A promoters and characterization of the genetic basis of polymorphic CYP3A5 expression

By P. Kuehl, Jiong Zhang, Yvonne S. Lin, J. Lamba, M. Assem, J. Schuetz, P. Watkins, A. Daly, S. Wrighton, S. Hall and 9 more. Nature Genetics, 2001

2,260 citations recorded by the source corpus.

Subfields: Oncology, Pharmacology

View Paper: https://www.semanticscholar.org/paper/603c734cf0922897af7ad4280247190acd400366

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Citations in the corpus

Pharmacogenetics of efavirenz and central nervous system side effects: an Adult AIDS Clinical Trials Group study (2004, background): “this variant allele encodes essentially inactive CYP3A5 [37].”
Moving towards individualized medicine with pharmacogenomics (2004, background): “The genotypic subgroup frequencies of many pharmacogenetic polymorphisms (for example, CYP3A5 a 3 , nitric oxide synthetase, angiotensin-converting enzyme and UGT1A1 a 28 ) differ substantially between race”
Clinical Pharmacogenetics Implementation Consortium (CPIC) Guidelines for CYP3A5 Genotype and Tacrolimus Dosing (2015, background): “Variant alleles for CYP3A5 (*3, *6, or *7) may result in truncated mRNA with loss of expression of the functional protein in homozygotes or compound heterozygotes, or encode nonfunctional protein.(2) The physiological function of CYP3A5 is unclear.”
Species differences between mouse, rat, dog, monkey and human CYP-mediated drug metabolism, inhibition and induction (2006, background): “Furthermore, CYP3A5 is expressed in a third of Caucasian livers and more than half of African-American livers examined [189].”
Cytochrome P450 enzymes in drug metabolism: regulation of gene expression, enzyme activities, and impact of genetic variation. (2013, background): “The vitamin D receptor (VDR), another transcriptional regulator of CYP3A4, is also regulated by the CYP3A4-targeting miR-27b, resulting in an indirect and a direct mechanism for miRNA regulation of CYP3A4 (Pan et al., 2009).”
Pharmacogenomics of Drug Metabolizing Enzymes and Transporters: Relevance to Precision Medicine (2016, background): “This may partially explain why human studies of the CYP3A4 allelic variants do not agree with its clinical effects [100].”
Influence of cytochrome P450 polymorphisms on drug therapies: pharmacogenetic, pharmacoepigenetic and clinical aspects. (2007, background): “In addition to polymorphisms resulting in alternative CYP3A7 proteins, a genetic variation in CYP3A7 promoter CYP3A7⁎1C has been shown to be relevant for CYP3A7 expression (Kuehl et al., 2001; Burk et al., 2002; Sim et al., 2005).”
Polymorphism of human cytochrome P450 enzymes and its clinical impact (2009, background): “For example, the CYP3A5*3 variant resulting in defective enzyme is common in several ethnic groups, including Caucasians (Kuehl et al., 2001), African Americans (Kuehl et al., 2001), Japanese (Fukuen et al., 2002a), and Chinese (Chou et al., 2001; Shih and Huang, 2002).”