Angiotensin-converting enzyme gene polymorphism in Behçet's disease

M Akif Oztürk1, Meral Calgüneri, Sedat Kiraz

  • 1Department of Rheumatology, Gazi University Faculty of Medicine, Ankara, Turkey. makifozturk@yahoo.com

Clinical Rheumatology
|March 27, 2004
PubMed

Endothelial cell activation and/or injury is a characteristic feature of Behçet's disease (BD). The local renin-angiotensin system (RAS) in the vessel wall plays a prominent role in the endothelial control of vascular tonus and contributes to inflammatory processes. Angiotensin-converting enzyme (ACE) is the regulatory component of the RAS. In this study, we investigated the distribution of different alleles of the ACE gene in patients with BD, and the influence of the I/D polymorphism on different clinical manifestations of the disease. A cohort of 90 patients with BD were evaluated for their ACE genotype (male/female: 49/41, mean age: 36.9+/-10.6 years, min/max: 16-66 years). The mean duration of symptoms was 9.5+/-6.9 years (min/max: 1-35 years). The control population was composed of 30 healthy subjects (male/female: 15/15, mean age: 31.2+/-7.1 years, min/max: 20-45). The distribution of DD, ID and II genotypes of the ACE gene was 22 (24.5%), 56 (62.2%) and 12 (13.3%) for patients with BD, and 9 (30%), 16 (53.3%) and 5 (16.7%) for healthy controls, respectively. There was no significant difference between the groups (p>0.05). Similarly, there was no significant association between the ACE gene polymorphism and ocular, neurologic or vascular involvement of BD. The ACE gene polymorphism does not seem to play a role in the pathogenesis of BD. Moreover, possession of either the D or the I allele does not have an impact on the development of ocular, neurologic or vascular manifestations of the disease.

Related Concept Videos

Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase01:11

Pharmacogenetics 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...
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu01:29

Pharmacogenetic 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...
Pharmacogenetics of Phase II Enzymes: N-acetyltransferase, Thiopurine S-methyltransferase, UDP-glucuronosyltransferase01:27

Pharmacogenetics 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...
Pharmacogenetics of Drug Transporters: P-Glycoprotein and Solute Carrier Transporters01:16

Pharmacogenetics of Drug Transporters: P-Glycoprotein and Solute Carrier Transporters

The pharmacogenetics of drug transporters is increasingly recognized as a critical factor influencing interindividual variability in drug absorption, distribution, and elimination. These membrane-bound proteins regulate drugs' movement across cellular barriers by actively pumping them out (efflux) or facilitating their uptake (influx). Among the major transporter families, ATP-binding cassette (ABC) and solute carrier (SLC) transporters play particularly prominent roles. Genetic polymorphisms...
Treatment for Pulmonary Arterial Hypertension: Endothelin Receptor Antagonists01:18

Treatment for Pulmonary Arterial Hypertension: Endothelin Receptor Antagonists

Endothelins (ETs) are potent vasoactive peptides critical in the human body's various physiological and pathological processes. One of the most promising therapeutic strategies for treating pulmonary arterial hypertension (PAH) involves counteracting the effects of these endothelins using a class of drugs known as endothelin receptor antagonists.
ETs are synthesized through a complex sequence of enzymatic steps, primarily involving an enzyme referred to as endothelin-converting enzyme (ECE). Of...
Pharmacogenetics of Drug Metabolism: Overview01:27

Pharmacogenetics 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...