Related Experiment Video
Updated: Aug 14, 2026
06:21
Multi-Gene Single Nucleotide Polymorphism Detection in Gastric Cancer Based on Ion Semiconductor Sequencing Platform
Published on: May 10, 2024
Cervical cancer and CYP2E1 polymorphisms: implications for molecular epidemiology
Paula M Ferreira1, Raquel Catarino, Deolinda Pereira
1Oncologia Molecular-Laboratórios, Instituto Português de Oncologia-Porto, Piso 4, Rua Dr António Bernardino de Almeida, 4200-072, Porto, Portugal.
European Journal of Clinical Pharmacology
|December 24, 2005
Summary
CYP2E1 polymorphisms may influence cervical cancer risk. The DraI polymorphism
Area of Science:
- Genetics and Cancer Epidemiology
- Molecular Biology and Carcinogenesis
- Environmental Health and Toxicology
Background:
- Cervical cancer (CC) development involves cofactors like HPV, tobacco smoke, and inflammation.
- CYP2E1 genetic variations influence carcinogen metabolism, potentially impacting CC risk.
- Understanding these genetic factors is crucial for identifying susceptible populations.
Purpose of the Study:
- To investigate the association between CYP2E1 polymorphisms and cervical cancer susceptibility in a Portuguese cohort.
- To explore the role of specific CYP2E1 polymorphisms (DraI and RsaI) in cervical carcinogenesis.
- To identify potential genetic markers for cervical cancer risk assessment.
Main Methods:
- Genotyping of CYP2E1 polymorphisms using Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP).
- Analysis of peripheral blood samples from 454 individuals: 122 with invasive squamous cell carcinoma (ICC), 59 with squamous intraepithelial lesions (SIL), and 274 healthy controls.
- Statistical analysis to determine odds ratios (OR) and p-values for genotype-associated risks.
Main Results:
- The DraI polymorphism showed a reduced risk of squamous cervical lesions with the C allele (OR=0.600, p=0.029).
- An increased risk for SIL was observed in women over 39 with the DraI D allele (OR=0.087, p=0.003).
- No significant associations were found for the RsaI polymorphism.
Conclusions:
- CYP2E1's DraI polymorphism may influence early stages of cervical carcinogenesis, particularly in relation to inflammation.
- The D allele's association with reduced risk for SIL suggests a role in initial carcinogenic steps.
- These findings could inform future chemoprevention strategies for cervical cancer.
Related Concept Videos
01:28Pharmacogenetics of Phase I Enzymes: Cytochrome P450 Isozymes
Cytochrome P450 (CYP450) enzymes are a superfamily of heme-containing monooxygenases that play a pivotal role in Phase I drug metabolism by catalyzing oxidation and reduction reactions.These enzymes transform lipophilic xenobiotics into more hydrophilic metabolites, facilitating subsequent Phase II conjugation and eventual excretion. The CYP450 family is classified into families (e.g., CYP1–CYP3) and subfamilies (e.g., CYP2A, CYP2C), based on amino acid sequence homology.CYP450 isoenzymes,...
01:29Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu
Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...
01:11Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase
Genetic polymorphisms in drug targets have emerged as critical determinants of interindividual variability in drug response and toxicity. Pharmacogenomic investigations increasingly focus on identifying these variations to personalize and optimize therapeutic interventions. A drug target may be a receptor, enzyme, or signaling protein involved in pharmacologic responses or disease-related pathways. While early pharmacogenetic studies focused primarily on drug metabolism, current research...
01:27Pharmacogenetics of Drug Metabolism: Overview
Genetic polymorphism in drug metabolism is crucial to the inter-individual variability observed in drug responses. Drug metabolism primarily involves the chemical modification of drugs and other xenobiotics to enhance their elimination by increasing their polarity. Two main classes of enzymes mediate this biotransformation process: Phase I enzymes, primarily cytochrome P450s, catalyze oxidation and reduction reactions, while other enzymes, such as esterases, mediate hydrolysis, and Phase II...
01:27Pharmacogenetics of Phase II Enzymes: N-acetyltransferase, Thiopurine S-methyltransferase, UDP-glucuronosyltransferase
Phase II biotransformation reactions are essential for detoxifying and eliminating xenobiotics, including many pharmaceutical compounds. These reactions typically involve conjugation, the covalent attachment of polar endogenous groups such as glucuronic acid, sulfate, methyl, or acetyl moieties to functional groups introduced during Phase I metabolism. The resulting conjugates are more water-soluble, enabling efficient renal or biliary excretion.The major classes of Phase II enzymes include...
01:05Single Nucleotide Polymorphisms-SNPs
A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...