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العنوان
Association between vitamin D receptor gene polymorphism and Type 1 diabetes in children /
المؤلف
Khalil, Shymaa Osama Ahmed.
هيئة الاعداد
باحث / شيماء أسامة أحمد خليل
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مشرف / خديجة محمد أبو جبل
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مشرف / منى زكي شريف
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مشرف / نيفين أحمد المسلمي
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الموضوع
Diabetes. Vitamin D Congresses. Vitamin D in the body Congresses. Vitamin D therapeutic use Congresses. Vitamin D chemistry Congresses.
تاريخ النشر
2018.
عدد الصفحات
104 p. :
اللغة
الإنجليزية
الدرجة
ماجستير
التخصص
الطب
تاريخ الإجازة
17/4/2018
مكان الإجازة
جامعة بني سويف - كلية الطب - الباثولوجيا الاكلينيكية و الكيميائية
الفهرس
Only 14 pages are availabe for public view

from 117

from 117

Abstract

Summary
Diabetes is a common chronic progressive disease that occurs either when the pancreas loses its function to produce the hormone insulin sufficiently or when the target cells are unable to use the insulin even if the pancrease produces it.
Diabetes is classified into 4 categeories: Type 1 diabetes, Type 2 diabetes, gestational diabetes and other specific types.
Type 1 diabetes in childhood is one of the commonest long term conditions of childhood. It is a multifactorial disease caused by interactions between many genetic and environmental factors, and characterized by autoimmune destruction of pancreatic β cells.
The classic symptoms of untreated diabetes are :Weight loss, polyuria, polydipsia and polyphagia.
One of its most serious complication is diabetic ketoacidosis which is the leading cause of mortality and morbidity in children with type 1 diabetes mellitus.
Type 1 diabetes being an autoimmune disease due to immune mediated destruction of pancreatic islet cells is a logical target for the immune modulatory activity of vitamin D. All immune cells possess a VDR.
In recent years, there has been evidence that vitamin D status has a role in the pathogenesis of several metabolic derangements including dysglycemia with evidence for a direct effect of 1,25(OH)2D on insulin synthesis and secretion.
The VDR gene contains more than 470 single nucleotide polymorphisms.
The VDR gene polymorphism may be a causative factor for type 1 DM as this polymorphism has been shown to directly affect VDR gene expression.
This study was conducted on 50 subjects were divided into 2 groups:
First group (Case group): Included 30 previously diagnosed T1DM patient, with an age ranging from 1-15 years from those attending the Pediatric Endocrinology clinic of Beni-Suef University Hospital.
Second group (control group): Included 20 healthy age and sex matched controls, with an age ranging from 1-15 years with normal FBS, HbA1c and no history of T1DM or other autoimmune disease.
All subjects were subjected to the following laboratory investigations:
1) Routine investigations for T1DM patients:
Fasting blood sugar.
HbA1c.
Hemoglobin level.
2) Specific investigation:
Serum 25(OH) vitamin D measured by ELISA
3) Genetic analysis:
Genomic DNA extraction and analysis for VDR-BsmІ and VDR-FokІ SNPs using polymerase chain reaction followed by restriction fragment length polymorphism (PCR-RFLP) method.
Results of the current study revealed that:
In comparison the two groups (cases and controls) as regards Serum 25(OH) vitamin D, there is a relationship between vit D and T1DM as the mean 25(OH) vit D is significantly lower in the case group.
In comparison the two groups (cases and controls) as regards VDR-BsmІ and VDR-FokІ genotypes frequencies and allele frequencies in the current study, there was no statistically significant difference between both groups for either SNPs. This may be due to small sample size.