NOTCH3 T6746C and TP53 P72R Polymorphisms Are Associated with the Susceptibility to Diffuse Cutaneous Systemic Sclerosis.
Szymon ZmorzyńskiMagdalena Wojcierowska-LitwinMałgorzata KowalMałgorzata Michalska-JakubusWojciech StykAgata Anna FilipIrena WaleckaDorota KrasowskaPublished in: BioMed research international (2020)
The CT + CC genotypes of NOTCH3 gene and PR + RR genotypes of the TP53 gene increased the risk of dcSSc development. Moreover, genotypes of CT + CC were associated with the active form of SSc suggesting the role of the NOTCH pathway in the pathogenesis of this disease.NOTCH3 and TP53 genes and serum anti-TP53 antibodies with the susceptibility, clinical subset of systemic sclerosis (SSc), and clinical profile of SSc patient, particularly with lung involvement and disease activity.
Keyphrases
- systemic sclerosis
- interstitial lung disease
- disease activity
- rheumatoid arthritis
- cell proliferation
- genome wide
- systemic lupus erythematosus
- genome wide identification
- computed tomography
- image quality
- copy number
- rheumatoid arthritis patients
- dual energy
- ankylosing spondylitis
- contrast enhanced
- juvenile idiopathic arthritis
- magnetic resonance imaging
- case report
- dna methylation
- magnetic resonance
- idiopathic pulmonary fibrosis