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1. Arch Med Sci. 2011 Oct;7(5):864-9. Epub 2011 Nov 8.

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

Skrętkowicz J, Barańska M, Kaczorowska A, Rychlik-Sych M.

Department of Pharmacogenetics, Medical University of Lodz, Poland.

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. We determined whether there
was an association between susceptibility to SLE and particularly to CYP2D6
genotypes.
MATERIAL AND METHODS: The study was carried out in 60 patients with SLE and 129
healthy volunteers and all the subjects were of Polish origin. The samples were
analysed for two major defective alles for CYP2D6 - CYP2D6*3 and CYP2D6*4 and one
wild -type allele CYP2D6*1-by the polymerase chain reaction fragment length
polymorphism (PCR-RFLP) metod with DNA extracted from peripheral blood.
RESULTS: No statistically significant differences in the incidence of CYP2D6
genotypes between the studied groups were found (p = 0.615). Risk (OR) of SLE
development was 1.03 for the carriers of CYP2D6*3 allele and 1.48 for the
subjects with CYP2D6*4 allele; but it was not statistically significant.
CONCLUSIONS: Increased occurrence of mutant alleles of the CYP2D6 gene in SLE
patients and the calculated OR values could suggest the effect of these mutations
on increased SLE development.

PMCID: PMC3258794
PMID: 22291833 [PubMed - in process]