Evaluation of PSEN1 subunit of the γ-secretase gene in patients with psoriasis vulgaris: a pilot study

INTRODUCTION: Psoriasis is a chronic autoimmune inflammatory disease, the prevalence of which is 1–3% in the Polish population. Genome testing using single nucleotide polymorphisms revealed more than 50 regions associated with the risk of psoriasis, and most of these genes are associated with the immune system. AIM: To assess the presence of PSEN1 subunits of the γ-secretase gene polymorphisms in patients with psoriasis and comparison of results with a healthy control group. MATERIAL AND METHODS: We used polymerase chain reaction – restriction fragment length polymorphism (PCR RFLP) method to assess polymorphisms. The starting material for analysis was peripheral blood obtained from the patient. RESULTS: PSEN1a-positivity was found in 2/52 (2.78%) of patients with psoriasis and 1/36 (3.85%) of healthy controls. PSEN1b positivity was seen in 3/52 (5.77%) of patients with psoriasis and 1/36 (3.85%) of control individuals. Only 3 patients with psoriasis but none of healthy volunteers had a presence of PSEN1c. Four patients were excluded from further statistical analysis. CONCLUSIONS: We have not shown a relationship between PSEN1 polymorphism and the clinical occurrence of psoriasis but now we start the assessment of other subunits of the γ-secretase gene – PSENEN and NCSTN.