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العنوان
Association of rs6695096 Single Nucleotide Polymorphism of Human Mannose Binding Lectin Associated Serine Protease 2 (MASP2) Gene Locus and MASP2 Serum Level with Systemic Lupus Erythematosus /
المؤلف
Abu Shabana, Deena Sameer Ahmed.
هيئة الاعداد
باحث / دينا سمير أحمد أبو شبانة
مشرف / شيرين السيد محمد طه
مشرف / دينا محمد عرفان
مشرف / ياسمين محمد أحمد
مشرف / محمد رزق محمد
تاريخ النشر
2023.
عدد الصفحات
158 p. :
اللغة
الإنجليزية
الدرجة
الدكتوراه
التخصص
علم المناعة والحساسية
تاريخ الإجازة
1/1/2023
مكان الإجازة
جامعة عين شمس - كلية الطب - الميكروبيولوجيا الطبية والمناعة
الفهرس
Only 14 pages are availabe for public view

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from 158

Abstract

SLE is a heterogeneous multisystem disorder affecting more than 3.41 million people worldwide and 103, 134.53, 517 cases per 100,000 of Arabs, Caucasian and Africans respectively.
The pathogenesis of the disease depends on immune dysregulation with the autoantibodies representing the hallmark basis. Since complement system activation is associated with tissue damage, inflammation and thrombosis in SLE, studying the association between MASP2 -the central enzyme of the lectin pathway- and SLE disease as well as the disease activity became of interest.
The detection of SNP within MASP2 gene locus may be associated with different levels of gene transcription which will affect the development of SLE.
This study aimed to find out the association between MASP2 serum level and SLE disease activity, in addition, studying the association between MASP2 SNP at rs6695096 and SLE.
Fifty subjects were included in this study. Thirty-five SLE patients diagnosed according to SLICC and categorized according to SLEDAI 2K to different disease severities and fifteen age and sex matched apparently healthy subjects were recruited.
All subjects included in the study were investigated for MASP2 SNP rs6695096 by real time PCR and MASP2 serum levels by ELISA.
The level of MASP2 in the patients group was 25 – 750 with a median of 140 ng/ml while it was 25 – 800 with a median of 450 ng/ml in the control group, so the association between decreased level of MASP2 and SLE was statistically significant. In addition, lower MASP2 levels were significantly correlated with higher SLEDAI scores.
The frequency of TT and TC genotypes in the patients group were 68.6% and 31.4% respectively while the frequency of TT, TC, CC in the controls group were 73.3%, 20.0% and 6.7% respectively and there was no statistically significant difference between the two studied groups regarding the allelic distribution. So The association between MASP2 SNP and SLE could not be proved.
No statistically significant difference in serum MASP2 level among the different genotypes of the studied SNP was detected.