title: Genetic polymorphism ofCYP2D6in patients with systemic lupus erythematosus and systemic sclerosis.
abstract: 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 aim of the study was to evaluate the CYP2D6 polymorphism in the SLE (systemic lupus erythematosus) and SSc (systemic sclerosis) patients and to investigate a possible correlation with disease susceptibility. The study was carried out in 296 patients: 65 patients with SLE, 81 patients with SSc, and 150 healthy volunteers. TheCYP2D6genotypes were analyzed by polymerase chain reaction fragment length polymorphism (PCR-RFLP) method. The relative risk of developing SSc, expressed by the odds ratio, was three-fold higher for persons with theCYP2D6*1/CYP2D6*4genotype (OR = 2.9; statistically significant difference,p= 0.0002). A statistically significant correlation between theCYP2D6*4allele prevalence and the risk for developing SSc was found (OR = 1.53;p= 0.047). No effect of theCYP2D6gene mutations on the incidence of SLE was noted. The obtained results may suggest the influence ofCYP2D6*4gene variants alleles on increased incidence of systemic sclerosis.
authors.affiliation: Department of Pharmacogenetics, Chair of Biopharmacy, Medical University of Lodz, Łódź, Poland and.
authors.forename: Małgorzata
authors.initials: M
authors.lastname: Barańska
authors.affiliation: Department of Pharmacogenetics, Chair of Biopharmacy, Medical University of Lodz, Łódź, Poland and.
authors.forename: Mariola
authors.initials: M
authors.lastname: Rychlik-Sych
authors.affiliation: Department of Dermatology and Pediatric Dermatology and Oncology, Medical University of Lodz, Łódź, Poland, and.
authors.forename: Andrzej
authors.initials: A
authors.lastname: Kaszuba
authors.affiliation: Department of Dermatology and Venereology, Medical University of Lodz, Łódź, Poland.
authors.forename: Bożena
authors.initials: B
authors.lastname: Dziankowska-Bartkowiak
authors.affiliation: Department of Pharmacogenetics, Chair of Biopharmacy, Medical University of Lodz, Łódź, Poland and.
authors.forename: Jadwiga
authors.initials: J
authors.lastname: Skrętkowicz
authors.affiliation: Department of Dermatology and Venereology, Medical University of Lodz, Łódź, Poland.
authors.forename: Elżbieta
authors.initials: E
authors.lastname: Waszczykowska
keywords: Autoimmune diseases; cytochrome P-450; genotypes; oxidation; xenobiotics