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العنوان
Effect Of Vitamin D Receptor Gene Polymorphism On Lipid Profile In Egyptian Children With Juvenile Idiopathic Arthritis /
المؤلف
Hana, Malak Thabet Labeb.
هيئة الاعداد
باحث / ملاك ثابت لبيب حنا
loka682015@gmail.com
مشرف / محمد حسين معبد
مشرف / أسامة عزت بطرس
مشرف / شيماء عبد المنعم قرني
مشرف / نهي عبد الحفيظ عبد القادر
الموضوع
Gene expression. Vitamins. Rheumatoid arthritis in children. Vitamin D Congresses. Arthritis, Juvenile Rheumatoid diagnosis. Arthritis, Juvenile Rheumatoid therapy. Vitamin D Therapeutic use Congresses.
تاريخ النشر
2021.
عدد الصفحات
90 p. :
اللغة
الإنجليزية
الدرجة
الدكتوراه
التخصص
طب الأطفال ، الفترة المحيطة بالولادة وصحة الطفل
الناشر
تاريخ الإجازة
22/9/2021
مكان الإجازة
جامعة بني سويف - كلية الطب - الاطفال
الفهرس
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Abstract

Summary
Juvenile idiopathic arthritis (JIA) is one of the most common chronic rheumatic diseases in childhood and adolescents. It is associated with periods of disease flares and periods of disease inactivity and includes multiple different forms of chronic arthritis.
The exact etiology of JIA is unknown but it’s believed to be multifactorial including genetic and environmental factors that lead to the imbalance favoring the production of pro-inflammatory cytokines, including interleukin-1β (IL-1β), interleukin-6 (IL-6), and tumor necrosis factor-alpha (TNF-α) in both serum and synovial fluid and therefore, the elevated synthesis of acute phase proteins, lipolysis and insulin resistance in adipose tissue.
Vitamin D is a lipid-soluble prohormone that is vital for the maintenance of bone and muscle health and regulating both innate and adaptive immunity. Vitamin D exerts its function by binding with the vitamin D receptor (VDR).
Numerous polymorphisms have been identified in the VDR gene that causes many different diseases. Such polymorphisms could occur in allelic variants of VDR gene including Apa1 (allele A/a), Bsm1 (allele B/b), Taq1 (allele T/t) and Fok 1(allele F/f).
The aim of our study was to evaluate the influence of vitamin D receptor polymorphism on lipid profile in patients with juvenile idiopathic arthritis (JIA) and its relation to other disease clinical and laboratory parameters.
Our study is a case control study included 55 juvenile idiopathic arthritis patients. They were recruited and assessed for eligibility from pediatric department (outpatients & inpatients) in Beni-suef university hospital and were labeled in this
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Summary
study as cases group with age range under sixteen years old. An age and sex matched control group were recruited including 55 healthy participants.
The mean age of the cases and control groups were 8.4 ± 3.1 and 9.3 ± 2.7 years old, respectively, with no significant difference between both groups (P value
= 0.107). There were no significant difference between both groups regarding genders (P value = 1).
Our study revealed that the most affected joint among the studied children was the knee joint (69.1%) followed by the ankle joint (43.6%) then wrist joint (40%) the least affected one was feet joints’ (1.8%). Most of the cases were suffering an oligoarticular form of JIA (78.2%). Only 9.1% were suffering eye affection, and 7.3% had deformity of one or more of the affected joints.
Our study indicated that the most common used drug was NSAID (52.7%) and methotrexate (40%) then, arthfree (12.7%), biological (7.3%) then calcium (5.5%).
In our study the mean hemoglobin, white blood cells and platelets in cases controls was 11.6±1.1 &12.6±1.3, 7.9±2.8 &7.3±1.7 and 309.5±105.5 X103& 279.7±75.6 X103, respectively, moreover, the mean ESR and CRP were higher in cases group in comparison with control group (26.1±15.5&8.2±2.6, and 15.2±16.5& 0.7±1.4 respectively).
Our study illustrated that there was a statistically significant higher cholesterol, LDL and triglyceride and lower level of HDL among cases with JIA in comparison with controls (P value < 0.001).
Regarding the genotypes and allelotypes of VDR gene, our study indicated that the FF genotype was associated with about three folds risk for JIA as
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Summary
compared to the ff alone and Ff/ff genotypes, while the presence of the F and f alleles were not significantly different between both groups. In our study, the presence FF/Ff genotype didn’t significantly increase the risk of occurrence of JIA (P-value=0.062).
In our study, there were no statistically significant differences between different genotypes of VDR regarding cholesterol, LDL, HDL, and triglyceride levels in both groups of cases and controls (P value > 0.05). There were no statistically significant differences between Ff/ff and FF genotypes of VDR regarding cholesterol, LDL, HDL and triglyceride levels in both groups of cases and controls (P value > 0.05). Moreover, there were no statistically significant differences between ff and FF/Ff genotypes of VDR regarding cholesterol, LDL, HDL, and triglyceride levels in both groups of cases and controls.
Regarding the relation between genotype variation of VDR and type of JIA, there was a significant association of FF genotype with oligoarticular type of JIA and Ff, ff with the polyarticular type of JIA (P-value<0.001).
Our study showed that there was a significant positive moderate linear correlation between the LDL and the disease duration while there was a weak positive linear correlation between triglycerides and disease duration.