Original article
Polymorphism in cytochrome P-450 (CYP1A1) in acne vulgaris – preliminary study

Introduction: Cytochrome P-450 (CYP1A1) belongs to the superfamily of catabolic enzymes metabolizing endo- and exogenous substrates such as: lipid acids, sterols, sexual steroids, glucocorticosteroids, vitamin D, leukotriens and metabolites of vitamin A. There are two known mutations described in CYP1A1 intensifying its activity: m1 – thymine to cytosine transition (T→C) at position 6235, and m2 – adenine to guanine transition (A→G) at position 4889. M1 and m2 mutation lead to rising CYP1A1 activity. This mutation leads to diminution of biological action of natural retinoids by their fast conversion to inactive metabolites. The retinoid deficiency disturbs sebaceous gland activity, which plays one of the most important roles in aetiopathogenesis of acne.
Aim: To determine the connection between m1 and m2 CYP1A1 gene mutations and the occurrence and severity of acne vulgaris.
Material and methods: Forty (40) patients with acne vulgaris symptoms or anamnesis and 40 healthy volunteers without acne in anamnesis (older than 20 years old in both groups) were clinically evaluated according to Cunliffe and Burke’s scale. CYP1A1 polymorphism was analyzed by polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) in case of m1 mutation and allele-specific PCR in case of m2 mutation.
Results: The T to C transition (m1) was observed in 20% of patients (8/40), the A to G transition (m2) in 15% of patients (6/40). Both mutations were detected in 6 patients (75%) of patients with any mutation. There was no positive correlation between incidence of mutation and severity of acne. The m1 mutation was detected in 10% of healthy volunteers (4/40), m2 – in 7.5% (3/40). Only one person carries both mutations.
Conclusions: Two times higher incidence of CYP1A1 m1 and m2 mutations and frequently higher coexistence of both mutations in the group of patients with acne seems to indicate significant role of CYP1A1 polymorphism in aetiopathogenesis of that skin disorder. Further investigations are required to yield more information on this field.