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العنوان
Association of Tumor Necrosis Factor, Alpha-Induced Protein 3 Gene Polymorphism (rs5029939) with Systemic Lupus Erythematosus /
المؤلف
Abd Almonem, Ahmed Elhamy.
هيئة الاعداد
باحث / أحمد إلهامي عب د المنع م
مشرف / مها عبد الرافع البسيوني
مشرف / أحمد عبد الرحمن سنبل
مشرف / ثريا أحمد عمر
الموضوع
Clinical Pathology.
تاريخ النشر
2020.
عدد الصفحات
70 p. :
اللغة
الإنجليزية
الدرجة
ماجستير
التخصص
إعادة التأهيل
تاريخ الإجازة
27/3/2021
مكان الإجازة
جامعة المنوفية - كلية الطب - الجيوفيزياء التطبيقية
الفهرس
Only 14 pages are availabe for public view

from 74

from 74

Abstract

Systemic lupus erythematosus (SLE) is an autoimmune disorder with a wide range of clinical symptoms. Systemic lupus erythematosus is inherited in a polygenic manner in most patients. Genetic interactions with environmental factors are mostly responsible for initiation of the disease’s symptoms and determination of its progression.
Single nucleotide polymorphisms (SNPs) in the vicinity of the Tumor necrosis factor alpha-induced protein 3 (TNFAIP3) gene are associated with a spectrum of chronic systemic inflammatory diseases and studies have reported this association in autoimmune diseases including SLE.
The aim of this current study was to evaluate the association of Tumor necrosis factor, alpha-induced protein 3 gene polymorphism (rs5029939) with systemic lupus erythematosus.
This study included 160 subjects who were classified into two groups; group I that included 80 patients with SLE and group II that included 80 age and gender matched subjects as control group.
All patients 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 cases in the study including complete blood count (CBC), ESR, C-reactive protein, liver function tests, kidney function test, 24-hour urinary protein, ANA, C3, C4 and anti-double strand DNA.
Genotyping for TNFAIP3 gene polymorphism was done by DNA extraction and genotyping followed by polymerized chain reaction (PCR). Renal biopsy was performed for all patients to determine the diagnosis and to classify the glomerular disease.
The results of this study revealed the following:
1. No significant difference in the demographic data between the SLE cases and control group.
2. The mean SLEDAI score of SLE cases was 11.9 ± 4.24 with range between 5 and 35.
3. SLE was associated with affection of the kidney functions as revealed by elevation in serum creatinine, urea, protein/creatinine ratio and amount of protein in 24 hours in urine that were significantly higher in the SLE cases.
4. The symptoms of lupus nephritis among the affected cases include puffy eyelids in 29 cases (36.8%), elevated HTN in 31 cases (38.3%), dark urine in 23 cases (28.8%), frothy urine in 78 cases (97.5%) while no case revealed increased urination at night.
5. According to the results of renal biopsy in the SLE cases, 4 cases (5%) showed grade I nephropathy, 2 cases (2.5%) showed grade II nephropathy, 26 cases (32.5%) revealed grade III nephropathy, 42 cases (52.5%) had grade IV nephropathy while grade V nephropathy was detected in 6 cases (7.5%).
6. C/C genotype was present in 72.1% of the SLE vs 80% in the control group, C/G genotype in 27.5% in SLE cases vs 20% in the control group and G/G genotype was present in only 1 case in the SLE cases. The most frequent allele in the two groups was C allele (85% and 90%) in the SLE cases and control group respectively.