Background: Evidence suggests that Notch gene aberrations may be involved in the clinical expression of psoriasis. There are reports of Notch2 receptor expression peculiarities in psoriatic skin and others, indicating that VEGF-induced Notch4 overexpression promotes endothelial cell morphology alterations and that increased dermis vessel permeability histogenetically precedes the development of psoriatic lesions.
Objective: To investigate the correlation of polymorphisms in Notch2 and Notch4 genes with the appearance of psoriasis vulgaris.
Material and methods: Up to 305 patients suffering from psoriasis vulgaris were included in the study, genotyped by either real time quantitative PCR or PCR-RFLP.
Results: We observed: (a) Notch2: Statistically significant predominance of T/C genotype in male patients (p=0.037); (b) Notch4: Significantly higher frequency of the SNP1 T/T genotype (p=0.039) in psoriatic females; significant predominance of the SNP2 G/G and A/G (p=0.014) genotypes in female patients with late onset psoriasis (p=0.001).
Conclusion: This study supports the involvement of both Notch2 and Notch4 in the pathogenesis of psoriasis vulgaris. Pathogenetic participation of Notch2 seems more evident in male patients, possibly early onset, while that of Notch4 is more evident in late onset female patients.
Keywords: Notch2 gene polymorphisms; Notch4 gene polymorphisms; genetic polymorphisms in psoriasis; psoriasis genetics; psoriasis in females; psoriasis in males.