Mutation analysis of the human CYP3A4 gene 5′ regulatory region: population screening using non-radioactive SSCP

Hamzeiy, Hossein; Vahdati-Mashhadian, Nasser; Edwards, Helen J.; Goldfarb, Peter S.

doi:10.1016/s0027-5107(01)00305-0

Cited by 35 publications

(17 citation statements)

References 28 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Over 30 single nucleotide polymorphisms in CYP3A4 have been published, representing alleles CYP3A4*1 to CYP3A4*19, most of which are very rare and unlikely to impact on CYP3A4 activity in vivo. The best characterized variant, a promoter variant with an A to G transition at nucleotide Ϫ392 (CYP3A4*1B), was shown in vitro to have increased transcriptional activity (17,21) This variant exhibits interethnic variation with allele frequencies of 2 to 10% in white subjects and 35 to 84% in black subjects (18,(21)(22)(23)(24)(25)(26)(27)(28)(29)(30)(31)(32)(33)(34)(35)(36)(37)(38). Three other CYP3A4 polymorphisms (CYP3A4*6, CYP3A4*17, and CYP3A4*18) have been shown in vitro to result in functional changes in CYP3A activity (39,40).…”

Section: Discussionmentioning

confidence: 99%

Factors Affecting Cytochrome P-450 3A Activity in Cancer Patients

Baker

Schaik

Rivory³

et al. 2004

Clinical Cancer Research

119

View full text Add to dashboard Cite

Purpose: The purpose is to identify the demographic, physiologic, and inheritable factors that influence CYP3A activity in cancer patientsExperimental Design: A total of 134 patients (62 females; age range, 26 to 83 years) underwent the erythromycin breath test as a phenotyping probe of CYP3A. Genomic DNA was screened for six variants of suspected functional relevance in CYP3A4 (CYP3A4*1B, CYP3A4*6, CYP3A4*17, and CYP3A4*18) and CYP3A5 (CYP3A5*3C and CYP3A5*6).Results: CYP3A activity (AUC 0 -40min ) varied up to 14-fold in this population. No variants in the CYP3A4 and CYP3A5 genes were a significant predictor of CYP3A activity (P > 0.2954). CYP3A activity was reduced by ϳ50% in patients with concurrent elevations in liver transaminases and alkaline phosphatase or elevated total bilirubin (P < 0.001). In a multivariate analysis, CYP3A activity was not significantly influenced by age, sex, and body size measures (P > 0.05), but liver function combined with the concentration of the acute-phase reactant, ␣-1 acid glycoprotein, explained ϳ18% of overall variation in CYP3A activity (P < 0.001).Conclusions: These data suggest that baseline demographic, physiologic, and chosen genetic polymorphisms have a minor impact on phenotypic CYP3A activity in patients with cancer. Consideration of additional factors, including the inflammation marker C-reactive protein, as well as concomitant use of other drugs, food constituents, and complementary and alternative medicine with inhibitory and inducible effects on CYP3A, is needed to reduce variation in CYP3A and treatment outcome to anticancer therapy.

show abstract

Section: Discussionmentioning

confidence: 99%

Factors Affecting Cytochrome P-450 3A Activity in Cancer Patients

Baker

Schaik

Rivory³

et al. 2004

Clinical Cancer Research

119

View full text Add to dashboard Cite

show abstract

“…However, so far applications in food microbiology have been limited to cheese (Duthoit et al, 2003;Delbè s et al, 2007). In addition to the analysis of microbial communities, this technique has been used widely in mutation analysis (Hamzeiy et al, 2002) as well as for the differentiation and typing of isolates (Wagner et al, 2000;Moore et al, 2000).…”

Section: Single-strand Conformation Polymorphismmentioning

confidence: 99%

Recent advances in molecular techniques to study microbial communities in food-associated matrices and processes

2008

View full text Add to dashboard Cite

“…CYP3A4*1F is a variant in the 5' regulatory region of the gene and it leads to a new CpG island that can be methylated [29]. This potential methylation position could be significant for the function of this enzyme.…”

Section: Distribution Of Mutations In the Cohortmentioning

confidence: 99%

“…This potential methylation position could be significant for the function of this enzyme. To date, no particular phenotype has been associated with this allele [29,30]. Further research is therefore necessary in order to assess the role of CYP3A4*1F in the function of the enzyme.…”

Section: Distribution Of Mutations In the Cohortmentioning

confidence: 99%

Analysis of variants in the HCN4 gene and in three single nucleotide polymorphisms of the CYP3A4 gene for association with ivabradine reduction in heart rate: A preliminary report

et al. 2013

View full text Add to dashboard Cite

L12L, L520L, P852P, and P1200P, were detected in the HCN4 gene (frequency = 0.045, 0.045, and 0.681, respectively). Moreover, the CYP3A4*1F and CYP3A4*1B were found in one patient each and CYP3A4*1G was presented in 3 patients. Conclusions: This is the first study using an exploratory pharmacogenetic approach that attempts to explain interindividual variability in ivabradine HR reduction. However, more research must be undertaken in order to determine the role of variants in HCN4 and CYP3A4 genes in response to ivabradine. (Cardiol J 2016; 23, 5: 573-582)

show abstract

Mutation analysis of the human CYP3A4 gene 5′ regulatory region: population screening using non-radioactive SSCP

Cited by 35 publications

References 28 publications

Factors Affecting Cytochrome P-450 3A Activity in Cancer Patients

Factors Affecting Cytochrome P-450 3A Activity in Cancer Patients

Recent advances in molecular techniques to study microbial communities in food-associated matrices and processes

Analysis of variants in the HCN4 gene and in three single nucleotide polymorphisms of the CYP3A4 gene for association with ivabradine reduction in heart rate: A preliminary report

Contact Info

Product

Resources

About