Laboratory of Medical Biology, Clinic of Dermatology, Department of Medical Statistics, Democritus University of Thrace, 12 Chryssostomou Smyrnis Str, 68100 Alexandroupolis, Greece.
Eur J Dermatol. 2013 Apr 1;23(2):146-53. doi: 10.1684/ejd.2013.1985.
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.
To investigate the correlation of polymorphisms in Notch2 and Notch4 genes with the appearance of psoriasis vulgaris.
Up to 305 patients suffering from psoriasis vulgaris were included in the study, genotyped by either real time quantitative PCR or PCR-RFLP.
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).
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.
有证据表明 Notch 基因异常可能与银屑病的临床表现有关。有报道称 Notch2 受体在银屑病皮肤中表达特殊，还有报道称 VEGF 诱导的 Notch4 过表达促进内皮细胞形态改变，真皮血管通透性增加在银屑病皮损发生之前就具有组织发生学意义。
研究 Notch2 和 Notch4 基因多态性与寻常型银屑病发病的相关性。
采用实时定量 PCR 或 PCR-RFLP 对 305 例寻常型银屑病患者进行基因分型。
我们观察到：（a）Notch2：男性患者 T/C 基因型具有统计学显著优势（p=0.037）；（b）Notch4：女性银屑病患者 SNP1 T/T 基因型频率显著升高（p=0.039）；女性晚发性银屑病患者 SNP2 G/G 和 A/G 基因型具有统计学显著优势（p=0.014）。
本研究支持 Notch2 和 Notch4 均参与寻常型银屑病的发病机制。Notch2 的发病机制参与似乎在男性患者中更为明显，可能为早发性，而 Notch4 的发病机制参与在晚发性女性患者中更为明显。
