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العنوان
Vitamin D receptor gene polymorphisms in pathogenesis and susceptibility of diabetes mellitus /
المؤلف
Shalaby, Kholoud Mohamed Ali.
هيئة الاعداد
باحث / خلود محمد علي شلبي
مشرف / حمدي فؤاد علي مرزوق
مشرف / كفاية السيد محمد
مشرف / مصطفي محمد منصور
مشرف / آية محمد البيلي علي
الموضوع
Diabetes mellitus. Vitamin D. Vitamin D - Metabolism.
تاريخ النشر
2024.
عدد الصفحات
online resource (201 pages) :
اللغة
الإنجليزية
الدرجة
الدكتوراه
التخصص
أمراض الدم
تاريخ الإجازة
1/1/2024
مكان الإجازة
جامعة المنصورة - كلية الطب - الباثولوجيا الإكلينيكية
الفهرس
Only 14 pages are availabe for public view

from 226

from 226

Abstract

Introduction:. Diabetes mellitus (DM) is a common chronic disease with high rates of disability and mortality due to its vascular complications. Vitamin D has been suggested as a protective compound for diabetes mellitus. Several mechanisms linking vitamin D to the regulation of the immune response support a role for vitamin D in the pathogenesis of autoimmune diabetes. There is also increasing data from large-scale observational studies have shown an association between low 25-hydroxyvitamin D levels and development of type 2 DM and positive correlation between serum 1,25-OH-vitamin D (the active form) and both insulin sensitivity and secretion. The aim of the work: The aim of this study is to evaluate the association between vitamin D level and severity and complications of diabetes mellitus in Egyptian patients and to evaluate the association between VDR gene polymorphisms (bsm1& fokI) and diabetes mellitus (susceptibility and pathogenesis) in Egyptian patients. Patients: This study included 150 subjects, 100 DM patients attending Inpatient of diabetes and endocrinology unit and outpatient diabetic clinics of Specialized Medical Hospital at Mansoura University (divided in to 50 type 1 DM patients 15 males and 35 females and 50 type2 DM patients 18 males and 32 females) and 50 healthy subjects with matched age and sex were chosen as a control group. Methods: Patients and controls in this study were subjected to full history taking, clinical examination and lab investigation including CBC, liver function test, kidney function test, albumin to creatinine ratio, random blood sugar, HbA1c, lipid profile (TC, TGS and HDL), detection of Serum vitamin D level by ELISA technique. DNA extraction and polymerase chain reaction - restriction fragment length polymorphism (PCR-RFLP) of VDR gene polymorphisms (bsm1& fokI). Results & Conclusion: Type 1 DM and type 2 DM patients both had a significantly Lower mean serum vitamin D than control confirming the role of vitamin D deficiency in susceptibility and pathogenesis of DM. As regard VDR BsmI genotype and allele distribution there was no statistically significant difference between the studied groups. As regard VDR Fok-I genotype and allele distribution there was no statistically significant difference between Type 1 DM and control group. However, there was statistically significant difference between type 2 DM versus control group as regard FokI genotype with higher risk for type 2 DM with FF genotype than Ff genotype (odds ratio 12.80). But there was no statistically significant difference between type 2 DM versus control group as regard allele distribution Fok-I genotype. There was a statistically significant difference between type 1 and 2 DM for Fok-I genotype distribution; 8% of type I DM were ff genotype versus zero cases in type 2 DM (P=0.039). Recommendations: In the view of the present study, the following recommendations could be taken into consideration: More future large scale association studies on population from different medical centers in different regions in Egypt are recommended. Performing studies on the other the two VDR gene polymorphisms (ApaI and TaqI). Use more than one advanced SNP molecular biology genotyping techniques e.g. sequencing and microarrays.