Polymorphism rs662 (Q192R) of paraoxonase-1 and susceptibility to atherosclerosis of the coronary arteries.

Introduction: The present study concerns a connection of the Q192RPON1 polymorphism with atherosclerosis requiring percutaneous coronary intervention (PCI) or coronary artery bypass grafting (CABG) in the Polish population.

Methods: A total of 282 individuals who underwent coronary angiography took part in this study. The polymorphism was determined with the PCR-RFLP method.

Analysis of genetic polymorphisms of glutathione S-transferase (GSTP1, GSTM1, and GSTT1) in Polish patients with systemic sclerosis.

Aim: It is commonly assumed that a genetically determined polymorphism of xenobiotic biotransformation plays a particular role in the development of such disease entities in which chemical compounds and environmental pollutants are relevant etiologic factors. Systemic sclerosis (SSc, scleroderma) belongs to diseases of connective tissue, characterized by chronic inflammation developing on an autoimmune background. The current state of knowledge on the etiopathogenesis of autoimmune diseases indicates the existence of many factors affecting the development of the disease, including factors of the external environment.

Haplotypes of ABCB1 1236C >T (rs1128503), 2677G >T/A (rs2032582), and 3435C >T (rs1045642) in patients with bullous pemphigoid.

Bullous pemphigoid (BP) constitutes the most prevalent disease in the group of bullous dermatoses with the autoimmune background. Some authors suggest that certain cytokines (IL-2, IFN-γ) may be transported by P-glycoprotein (P-gp), the product of the ABCB1 gene. ABCB1 polymorphism might affect not only the effectiveness of treatment with drugs that are P-gp substrates but also contribute to the development of diseases, including BP.

Genotype and haplotype analysis of ABCB1 at 1236, 2677 and 3435 among systemic sclerosis patients.

Systemic sclerosis (SSc) belongs to the group of systemic diseases of the connective tissue, which are characterized by a chronic autoimmune inflammatory process. P-glycoprotein, initially associated with the drug resistance in patients with cancer, becomes more and more often a subject of considerations in terms of its significance in the development of illnesses, including autoimmune diseases. The aim of the study was an attempt to answer the question whether there was a relationship between ABCB1 polymorphisms and morbidity of systemic sclerosis in a Polish population.

ABCB1-Gen-Polymorphismus in einer polnischen Kohorte ist mit Risiko für bullöses Pemphigoid assoziiert.

Hintergrund Und Ziele: Polymorphismen im ABCB1-Gen, das für das P-Glykoprotein kodiert, können die intrazelluläre Konzentration von Xenobiotika beeinflussen und so zur Entwicklung von Autoimmunerkrankungen, einschließlich des bullösen Pemphigoids (BP), beitragen. In der vorliegenden Studie sollte untersucht werden, ob in einer polnischen Kohorte die C3435T- und G2677T/A-Polymorphismen im ABCB1-Gen mit dem Risiko für ein BP assoziiert sind.

Patienten Und Methodik: Die Studie umfasste 71 Patienten mit BP und 156 gesunde Probanden.

ABCB1 gene is associated with the risk of bullous pemphigoid in a polish population.

Background And Objectives: Polymorphisms in the P-glycoprotein-encoding ABCB1 gene may affect the intracellular concentration of xenobiotics, and thus contribute to the development of autoimmune diseases, including bullous pemphigoid (BP). The objective of the present study was to investigate whether there is an association between the C3435T and G2677T/A polymorphisms in the ABCB1 gene and the risk of BP in a Polish population.

Patients And Methods: The study included 71 patients with BP and 156 healthy volunteers.

Genetic polymorphism of in patients with systemic lupus erythematosus and systemic sclerosis.

Human organism is constantly exposed to harmful exogenous factors (xenobiotics) including drugs and carcinogenic compounds that can induce development of a large number of diseases. The processes of biotransformation in the organism are multidirectional and xenobiotics can be transformed into active or inactive metabolites via the oxidative route. The knowledge of oxidation polymorphism in the course of systemic lupus erythematosus and systemic sclerosis may be helpful in choosing more efficient and safer therapy, particularly in the case of a disease involving various organs and treated with drugs belonging to diverse therapeutic groups.

The impact of the CYP2D6 gene polymorphism on the risk of pemphigoid.

Background: Studies concerning the etiopathogenesis of numerous diseases emphasize the involvement of genetically determined impairments of xenobiotic metabolism. Nowadays, more attention has been drawn to the role of cytochrome P450 and its isoenzymes in the course of dermatological diseases, including pemphigoid, the most frequently occurring autoimmune bullous disease, whose etiopathogenesis has not been completely elucidated.

Aim: The aim of the study was to find out whether there was any relationship between the CYP2D6 gene polymorphism and the development of bullous pemphigoid (BP).

Significance of the genetic polymorphism of CYP2D6 and NAT2 in patients with inflammatory bowel diseases.

Background: The main types of inflammatory bowel diseases (IBD) are ulcerative colitis (UC) and Crohn's disease (CD). There is evidence that, in addition to immunological and environmental factors, genetic factors also play an important role in the pathogenesis of IBD. Determination of polymorphism of CYP2D6 and NAT2 genes encoding I and II phase enzymes of xenobiotic biotransformation may have clinical value as an indicator of individual predisposition to diseases, and also contribute to effective and safe pharmacotherapy.

Genetic polymorphisms of CYP2D6 oxidation in patients with autoimmune bullous diseases.

Introduction: Bullous skin diseases, which include, among others pemphigoid, pemphigus, and dermatitis herpetiformis are classified as severe autoimmune dermatoses. It has been shown that a pattern of xenobiotic metabolism may play a role in the pathogenesis of autoimmune diseases.

Aim: To estimate whether the CYP2D6 genotype may be considered a predisposing factor in autoimmune bullous diseases induction.

[Clinical significance of pharmacogenetics in psychiatry].

One of the problems in the pharmacotherapy of mental disorders is among others a lack of appropriate response to treatment, which may be associated with ineffective therapy, adverse drug reactions and self medication. Participation of cytochrome P-450 isoenzymes (including CYP1A2, CYP2C19, CYP2D6, CYP3A4) in the metabolism of psychotropic drugs contributes to risk of adverse interactions, both in pharmacokinetic and pharmacodynamic phase. Pharmacogenetic studies may have an increasing importance in the field of improving both therapeutic effectiveness and safety of psychotropic drugs in treatment of mental disorders.

[Clinical significance of pharmacogenetics in dermatological diseases].

The etiology of dermatological diseases is still unknown. Involvement of genetic and environmental factors in the pathogenesis of dermatological diseases has contributed to a number of studies whose aim is to elucidate the way in which xenobiotics exert effects on the occurrence of these diseases. The search for genes responsible for dermatological diseases is taking into consideration polymorphism of genes of cytochrome P450 (CYP), NAT2 (N-acetylotransferase 2), GST (glutatione S-transferase).

C3435T polymorphism of the ABCB1/MDR1 gene encoding P-glycoprotein in patients with inflammatory bowel disease in a Polish population.

Background: Inflammatory bowel disease (IBD) belongs to the group of chronic diseases of the gastrointestinal tract, prevalence of which is increasing in the Polish population. The two main clinical types of IBD are ulcerative colitis (UC) and Crohn's disease (CD). The expression level of the ABCB1/MDR1 gene which encodes P-glycoprotein seems to be of great prognostic relevance while evaluating patients' susceptibility to UC or CD.

Significance of genetic polymorphism of CYP2D6 in the pathogenesis of systemic sclerosis.

Background: Systemic sclerosis (SSc) belongs to the group of systemic diseases of the connective tissue, which are characterized by a chronic autoimmune inflammatory process. The studies on etiopathogenesis of autoimmune diseases focus on the impact the genetically conditioned impairment of xenobiotic metabolism may exert. The genetically polymorphic CYP2D6 is one of the most important phase I drug metabolizing enzymes.

Genetic polymorphisms of CYP2D6 oxidation in patients with systemic lupus erythematosus.

Introduction: Systemic lupus erythematosus (SLE) is a complex, multifactor autoimmune disease. The studies on aetiopathogenesis of autoimmune diseases focus on the impact the genetically conditioned impairment of xenobiotic metabolism may exert. The knowledge of oxidation polymorphism in the course of SLE may be helpful in choosing more efficient and safer therapy.

Genetic polymorphisms of CYP2D6 oxidation in patients with systemic sclerosis.

Background: Involvement of genetic and environmental factors in the pathogenesis of scleroderma has contributed to a number of studies whose aim is to elucidate the way in which xenobiotics exert effects on the occurrence of autoimmune processes resulting in development of systemic sclerosis (SSc).

Objective: The study dealt with the evaluation of the genetically determined polymorphism of CYP2D6, one of the phase I drug metabolizing isoenzymes, in patients suffering from SSc. Usefulness of the CYP2D6 genotype examination and prevalence of CYP2D6 gene mutation in light of susceptibility to SSc development were assessed.

Polymorphism of dextromethorphan oxidation in Polish population.

Determination of oxidation phenotype is used to obtain the best results of pharmacotherapy and to explain a lower efficiency of some drugs in particular patients. The purpose of the present study was to determine the distribution of CYP2D6 metabolizer status in subjects from central Poland, using dextromethorphan as the probe drug. The study included 104 healthy Polish volunteers.

Oxidative phenotype status in related subjects.

Human population varies with regard to the rate of drug metabolism. Differences in pharmacological activity of a drug in patients who belong to the same population result from a different enzymatic activity and different genotypes of those subjects. The aim of the study was to assess the incidence of extensive (EM) and poor (PM) oxidative phenotypes in related persons and to establish whether any associations exist between an individual, genetically conditioned drug oxidation capacity and a family relationship.

CYP2D6 phenotyping with dextromethorphan.

Genetically determined individual differences in the ability to oxidize certain drugs have raised recently a considerable interest because of clinical importance of this problem. Determination of CYP2D6 oxidation phenotype is used to obtain more efficient pharmacotherapy and to explain lower efficacy of some drugs and presentation of adverse effects in particular patients. The aim of this study was to identify the CYP2D6 oxidation phenotype with dextromethorphan (DM) as a probe drug.

Acetylation genotype and phenotype in patients with systemic lupus erythematosus.

Unlabelled: Systemic lupus erythematosus (SLE) is a chronic autoimmune disease affecting various tissues and organs. In the studies on SLE etiopathogenesis, a potential role of genetically determined impairment of xenobiotic metabolism has been emphasized. N-acetyltransferase 2 enzyme (NAT2) exhibits gene polymorphism and the acetylation rate with NAT2 involvement varies from person to person.