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العنوان
Association of Tumour Necrosis Factor
Superfamily Member 4 Gene Polymorphism
(rs1234315) with susceptibility of Systemic Lupus Erythematosus /
المؤلف
Kabil, Wafaa Yehia Ahmed.
هيئة الاعداد
باحث / وفاء يحيي أحمد قابيل
مشرف / أحمد عبد الرحمن سنبل
مشرف / ثريا أحمد عمر
مشرف / دينا سالم فتوح سليمان
تاريخ النشر
2022.
عدد الصفحات
69 P. :
اللغة
الإنجليزية
الدرجة
ماجستير
التخصص
الكيمياء الحيوية (الطبية)
تاريخ الإجازة
24/3/2022
مكان الإجازة
جامعة المنوفية - كلية الطب - الباثولوجيا الاكلينيكية
الفهرس
Only 14 pages are availabe for public view

from 80

from 80

Abstract

Summary
56
Summary
SLE is an autoimmune disease that affects people all over the world. The
pathogenic processes of SLE are the production of autoantibodies and the deposition of
antibody-containing immune complexes in blood vessels, which result in a variety of
clinical manifestations and target tissue damage.
SLE is distinguished by the involvement of complex genetic and environmental
components. The genetic component is important in the etiology of SLE disease with
multiple genetic variants as single nucleotide polymorphisms (SNPs) contributing to the
disease’s onset.
Single nucleotide polymorphisms (SNPs) in the area of the Tumor necrosis factor
superfamily number 4 (TNFSF4) gene have been linked to a variety of chronic systemic
inflammatory disorders, including SLE.
This study aimed to detect the association of TNFSF4 (rs1234315) gene
polymorphism and susceptibility of systemic lupus erythematosus.
100 subjects were included in this study and classified into two groups; group 1
included 50 patients with SLE and group 2 included 50 age and gender-matched subjects
as the control group.
All individuals were subjected to full history taking and full clinical examination.
Systemic lupus erythematosus disease activity index (SLEDAI) was assessed in all the
cases included in the study.
Different laboratory parameters were done for all the individuals in the study
including CBC, ESR, C-reactive protein, liver function tests, kidney function tests,
Protein/Creatinine ratio, urine microscopic examination, ANA, C3, C4, and anti-dsDNA.
Genotyping for TNFSF4 gene polymorphism was done by allelic discrimination
assay of real time PCR.
The results of this study revealed the following:
● The studied groups were age and gender matched
● The mean SLEDAI score of SLE cases was 14.14 ± 4.35 with a range between 5 and
35.
● CBC, ESR, CRP, C4, ANA, and anti-ds DNA were found with high significance in
SLE cases.
● SLE was associated with the affection of the kidney functions as revealed by elevation
in serum creatinine, urea, protein/creatinine ratio, which was significantly higher in
the SLE cases with no statistical significance according to liver investigations.
● The wild type (C/T)of TNFSF4 gene was significant in the control group while the
mutant type (T/T) was highly significant in SLE cases.
● T allele of TNFSF4 gene was highly significant in the SLE cases.