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.
Methods: Forty-three patients with SSc and 129 healthy volunteers were included in the study. Of the 43 patients with SSc, 17 fulfilled the criteria of diffuse SSc (dSSc) and 26 of limited SSc (lSSc). The determination of the CYP2D6 oxidative polymorphism was performed with the PCR-RFLP method.
Results: Relative risk of SSc development for particular genotype carriers expressed by the odds ratio (OR) was statistically significantly higher for subjects with CYP2D6*1/CYP2D6*4 (OR = 4.8; P < 0.001). A statistically significant correlation between the CYP2D6*4 allele prevalence and the risk for developing SSc was found (OR = 2.6; P = 0.0002).
Conclusion: Higher prevalence of the CYP2D6*4 mutated alleles in patients with SSc and the obtained OR values suggest that this mutation has the effect of increasing SSc morbidity rate.