NOTCH3 T6746C and TP53 P72R Polymorphisms Are Associated with the Susceptibility to Diffuse Cutaneous Systemic Sclerosis
作者: Szymon ZmorzyńskiMagdalena Wojcierowska-LitwinMałgorzata KowalMałgorzata Michalska-JakubusWojciech StykAgata Anna FilipIrena WaleckaDorota KrasowskaFrancesco Del Galdo
作者单位: 1Department of Cancer Genetics with Cytogenetic Laboratory, Medical University of Lublin, Lublin, Poland
2Chair and Department of Dermatology, Venerology and Pediatric Dermatology, Medical University of Lublin, Lublin, Poland
3Institute of Psychology, The John Paul II Catholic University of Lublin, Lublin, Poland
4Department of Dermatology, Centre of Postgraduate Medical Education, Warsaw, Poland
刊名: BioMed Research International, 2020, Vol.2020
来源数据库: Hindawi Journal
DOI: 10.1155/2020/8465971
原始语种摘要: Introduction . NOTCH pathway and TP53 protein are involved in the development of fibrosis and autoimmune disorders, respectively. The aim of this study was to evaluate the role of single nucleotide polymorphisms (SNPs) of 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. Objects and Methods . 124 white Polish SSc patients (101 with limited cutaneous SSc–lcSSc, and 23 with diffuse cutaneous SSc–dcSSc) and 100 healthy individuals were included in the study. Patients were assessed for the presence of autoantibodies and interstitial lung disease. Two SNPs at position 6746 of NOTCH3 gene (C/T alleles) and 215 of the TP53 gene...
全文获取路径: Hindawi 

  • susceptibility 磁化率
  • alleles 对立形质
  • interstitial 间隙原子
  • restriction 限制
  • pathway 轨道
  • including 包括(气导)包括……在内包括…在内
  • disease 
  • associated 相关的
  • significantly 较大地
  • fibrosis 纤维化