Related Experiment Video
Updated: Jul 17, 2026
10:44
Mass Spectrometry and Luminogenic-based Approaches to Characterize Phase I Metabolic Competency of In Vitro Cell Cultures
Published on: March 28, 2017
Cytochrome P450 polymorphisms in patients with Behcet's disease
Umit Tursen1, Lulufer Tamer, Hale Api
1Department of Dermatology, Faculty of Medicine, Mersin University, Mersin, Turkey. utursen@mersin.edu.tr
International Journal of Dermatology
|February 3, 2007
Summary
Individuals with Behcet
Area of Science:
- Genetics
- Immunology
- Pharmacogenomics
Background:
- Behcet's disease (BD) pathogenesis involves neutrophil dysfunction and oxidative stress.
- Cytochrome P-450 (CYP) enzymes are crucial for chemical detoxification and activation.
- Investigating genetic variations in CYP enzymes may reveal disease associations.
Purpose of the Study:
- To examine the association between CYP2C9 and CYP2C19 gene polymorphisms and Behcet's disease.
- To determine if specific CYP genotypes increase the risk of developing BD.
Main Methods:
- Real-time PCR was used to analyze CYP2C9 and CYP2C19 polymorphisms.
- The study included 62 Behcet's disease patients and 107 healthy controls.
- Genotype frequencies were compared between patient and control groups.
Main Results:
- A significantly higher prevalence of the heterozygous CYP2C19*2 genotype was found in BD patients (33.9%) compared to controls (16.8%).
- Individuals with the CYP2C19*2 heterozygous genotype had a 2.53-fold increased risk of Behcet's disease.
- No significant association was observed for CYP2C9*2, CYP2C9*3, or CYP2C19*3 polymorphisms with BD risk.
Conclusions:
- The heterozygous CYP2C19*2 genotype is more prevalent in Behcet's disease patients.
- Hereditary CYP2C19 deficiencies might disrupt antioxidant balance, contributing to oxidative damage in BD.
- CYP2C19*2 genotype may be a genetic risk factor for Behcet's disease.
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...
01:16Drug toxicity: Idiosyncratic Reactions
Idiosyncratic drug reactions represent abnormal chemical responses that vary significantly among individuals, ranging from extreme sensitivity to low doses to insensitivity to high doses. These reactions often occur due to the drug's covalent binding with serum proteins, forming a foreign hapten that triggers an immunotoxicological response. The variability in drug reactions has a strong pharmacogenetic foundation, with genetic differences crucial in how individuals metabolize drugs. For...
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...