The impact of theCYP2D6gene polymorphism on the risk of pemphigoid

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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.


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).

Material and methods

The study included 221 subjects, 71 patients with BP, and 150 healthy volunteers constituting a control group. The identification of CYP2D6 (CYP2D6*1, CYP2D6*3, CYP2D6*4) gene alleles was performed using the polymerase chain reaction–fragment length polymorphism method.


A higher frequency of the CYP2D6*3/CYP2D6*4 genotype was observed in patients with BP (P = 0.0033) than in controls. The relative risk of developing BP expressed with the odds ratio was nearly four times higher in subjects in whom the presence of the CYP2D6*3 allele was detected (odds ratio 3.8; P = 0.0234).


The study results may suggest the impact of CYP2D6 gene polymorphism (A2637 deletion) on a higher prevalence of bullous pemphigoid.

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