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Published on: August 15, 2019
notch2, notch4 gene polymorphisms in psoriasis vulgaris
Charalambos Michailidis1, Anthony Karpouzis, Niki Kourmouli
1Laboratory of Medical Biology, Clinic of Dermatology, Department of Medical Statistics, Democritus University of Thrace, 12 Chryssostomou Smyrnis Str, 68100 Alexandroupolis, Greece.
European Journal of Dermatology : EJD
|April 17, 2013
Summary
Genetic variations in Notch2 and Notch4 genes are linked to psoriasis vulgaris development. Specific genotypes were more frequent in male psoriasis patients and in female patients with late-onset disease, suggesting a role in disease pathogenesis.
Area of Science:
- Genetics
- Dermatology
- Molecular Biology
Background:
- Notch gene aberrations are implicated in psoriasis.
- Notch2 receptor expression and Notch4 overexpression are observed in psoriatic skin.
- VEGF-induced Notch4 alterations and increased vascular permeability precede psoriatic lesion development.
Purpose of the Study:
- To investigate the association between polymorphisms in Notch2 and Notch4 genes and the occurrence of psoriasis vulgaris.
- To explore potential sex-specific and age-of-onset-specific genetic links to psoriasis.
Main Methods:
- Genotyping of 305 psoriasis vulgaris patients.
- Utilized real-time quantitative PCR and PCR-RFLP techniques.
- Analyzed genetic polymorphisms in Notch2 and Notch4 genes.
Main Results:
- Notch2: T/C genotype showed a significant predominance in male patients (p=0.037).
- Notch4: SNP1 T/T genotype was significantly more frequent in female patients (p=0.039).
- Notch4: SNP2 G/G and A/G genotypes were significantly predominant in female patients with late-onset psoriasis (p=0.014, p=0.001).
Conclusions:
- Both Notch2 and Notch4 genes are involved in the pathogenesis of psoriasis vulgaris.
- Notch2's role appears more significant in male patients, potentially with early-onset disease.
- Notch4's pathogenetic contribution is more apparent in female patients with late-onset psoriasis.
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The Notch signaling pathway is a major intracellular signaling pathway that is highly conserved over a broad spectrum of metazoan species. It stands unique from other intracellular signaling mechanisms in animals because notch protein itself acts as the receptor as well as the primary signaling molecule.
The Notch gene came into the limelight in 1914 after the discovery that its mutation in Drosophila melanogaster leads to a serrated (or "notched") wing margin phenotype. It was not until 1985...
The Notch gene came into the limelight in 1914 after the discovery that its mutation in Drosophila melanogaster leads to a serrated (or "notched") wing margin phenotype. It was not until 1985...
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The Notch signaling pathway is a major intracellular signaling pathway that is highly conserved over a broad spectrum of metazoan species. It stands unique from other intracellular signaling mechanisms in animals because notch protein itself acts as the receptor as well as the primary signaling molecule.
The Notch gene came into the limelight in 1914 after the discovery that its mutation in Drosophila melanogaster leads to a serrated (or "notched") wing margin phenotype. It was not until 1985...
The Notch gene came into the limelight in 1914 after the discovery that its mutation in Drosophila melanogaster leads to a serrated (or "notched") wing margin phenotype. It was not until 1985...
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