Department of Cancer Genetics with Cytogenetic Laboratory, Medical University of Lublin, Lublin, Poland.
Chair and Department of Dermatology, Venerology and Pediatric Dermatology, Medical University of Lublin, Lublin, Poland.
Biomed Res Int. 2020 Feb 25;2020:8465971. doi: 10.1155/2020/8465971. eCollection 2020.
. 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 and 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. . 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 and 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.
The genotypic frequencies of the and =0.03; = 4.63). There was no significant difference between SSc patients and the control population in allele frequencies of both SNPs. The CT + CC genotypes of and =0.03; =0.03; =0.03; 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. =0.03.
The CT + CC genotypes of gene and PR + RR genotypes of the 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. and 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.
. NOTCH 通路和 TP53 蛋白分别参与纤维化和自身免疫性疾病的发展。本研究的目的是评估 和 基因的单核苷酸多态性 (SNP) 与易感性、系统性硬化症 (SSc) 的临床亚型以及 SSc 患者的临床特征，特别是与肺受累和疾病活动度的关系。. 124 名波兰白人 SSc 患者（101 名局限性皮肤 SSc-lcSSc 和 23 名弥漫性皮肤 SSc-dcSSc）和 100 名健康个体纳入研究。评估患者自身抗体和间质性肺病的存在情况。研究了 和 基因的 6746 位位置的两个 SNP 以及血清抗 TP53 抗体与易感性、系统性硬化症 (SSc) 的临床亚型以及 SSc 患者的临床特征，特别是与肺受累和疾病活动度的关系。
和 基因的基因型频率分别为 CT + CC ( =0.03; OR = 4.63)。在这两个 SNP 的等位基因频率方面，SSc 患者与对照组之间没有显著差异。 和 基因的 CT + CC 基因型与 dcSSc 发病风险增加有关。此外，CT + CC 基因型与 SSc 的活动形式相关，提示 NOTCH 通路在该疾病发病机制中的作用。 和 基因的 SNP 以及血清抗 TP53 抗体与易感性、系统性硬化症 (SSc) 的临床亚型以及 SSc 患者的临床特征，特别是与肺受累和疾病活动度的关系。
