NOTCH3 T6746C and TP53 P72R Polymorphisms Are Associated with the Susceptibility to Diffuse Cutaneous Systemic Sclerosis
المؤلفون المشاركون
Kowal, Małgorzata
Zmorzyński, Szymon
Filip, Agata Anna
Styk, W.
Wojcierowska-Litwin, M.
Michalska-Jakubus, Małgorzata
Walecka, Irena
Krasowska, Dorota
المصدر
العدد
المجلد 2020، العدد 2020 (31 ديسمبر/كانون الأول 2020)، ص ص. 1-9، 9ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2020-02-25
دولة النشر
مصر
عدد الصفحات
9
التخصصات الرئيسية
الملخص EN
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 (P/R alleles) were genotyped by PCR-restriction fragment length polymorphism.
Serum levels of anti-TP53 antibodies were analyzed by means of ELISA.
Results.
The genotypic frequencies of the NOTCH3 gene for SSc patients diverged significantly from Hardy–Weinberg equilibrium (p=0.03; χ2 = 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 NOTCH3 influenced the susceptibility to SSc (OR = 1.85, p=0.04), including dcSSc (OR = 3.43, p=0.04), and active form of SSc (OR = 5.46, p<0.001).
The PR + RR genotypes of the TP53 gene were associated only with dcSSc susceptibility (OR = 3.30, p=0.034).
The levels of anti-TP53 antibodies were not related to studied SNPs and clinical parameters of SSc including the presence of specific antibodies and interstitial lung disease.
Conclusion.
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.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Zmorzyński, Szymon& Wojcierowska-Litwin, M.& Kowal, Małgorzata& Michalska-Jakubus, Małgorzata& Styk, W.& Filip, Agata Anna…[et al.]. 2020. NOTCH3 T6746C and TP53 P72R Polymorphisms Are Associated with the Susceptibility to Diffuse Cutaneous Systemic Sclerosis. BioMed Research International،Vol. 2020, no. 2020, pp.1-9.
https://search.emarefa.net/detail/BIM-1137471
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Zmorzyński, Szymon…[et al.]. NOTCH3 T6746C and TP53 P72R Polymorphisms Are Associated with the Susceptibility to Diffuse Cutaneous Systemic Sclerosis. BioMed Research International No. 2020 (2020), pp.1-9.
https://search.emarefa.net/detail/BIM-1137471
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Zmorzyński, Szymon& Wojcierowska-Litwin, M.& Kowal, Małgorzata& Michalska-Jakubus, Małgorzata& Styk, W.& Filip, Agata Anna…[et al.]. NOTCH3 T6746C and TP53 P72R Polymorphisms Are Associated with the Susceptibility to Diffuse Cutaneous Systemic Sclerosis. BioMed Research International. 2020. Vol. 2020, no. 2020, pp.1-9.
https://search.emarefa.net/detail/BIM-1137471
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-1137471
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
تقوم هذه الخدمة بالتحقق من التشابه أو الانتحال في الأبحاث والمقالات العلمية والأطروحات الجامعية والكتب والأبحاث باللغة العربية، وتحديد درجة التشابه أو أصالة الأعمال البحثية وحماية ملكيتها الفكرية. تعرف اكثر