Role of vitamin D receptor gene polymorphisms (BsmI and FokI) in Egyptian children with Familial Mediterranean fever / Mohamed Hamdy Mohamed Alkomy ; Supervised Samia Salah Eldin Mahmoud , Yomna Mohamed Farag , Mona Mohsen Abdulsalam
Material type: TextLanguage: English Publication details: Cairo : Mohamed Hamdy Mohamed Alkomy , 2016Description: 120 P. : charts , facsimiles ; 25cmOther title:- فى الأطفال المصريين المصابين بحمى البحر المتوسط (FokI و BsmI)دور تعدد الشكل الجينى لمستقبلة الفيتامن - د [Added title page title]
- Issued also as CD
Item type | Current library | Home library | Call number | Copy number | Status | Date due | Barcode | |
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Thesis | قاعة الرسائل الجامعية - الدور الاول | المكتبة المركزبة الجديدة - جامعة القاهرة | Cai01.11.28.M.Sc.2016.Mo.R (Browse shelf(Opens below)) | Not for loan | 01010110070842000 | |||
CD - Rom | مخـــزن الرســائل الجـــامعية - البدروم | المكتبة المركزبة الجديدة - جامعة القاهرة | Cai01.11.28.M.Sc.2016.Mo.R (Browse shelf(Opens below)) | 70842.CD | Not for loan | 01020110070842000 |
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Thesis (M.Sc.) - Cairo University - Faculty of Medicine - Department of Pediatrics
Background: Familial Mediterranean fever (FMF) is an autosomal recessive auto-inflammatory disease. Vitamin D, a vital hormone with immune modulatory function, acts through a nuclear receptor (VDR). Several polymorphisms of VDR gene have been associated with many inflammatory and autoimmune diseases. Objective: The aim of this study was to determine the possible association between VDR gene polymorphisms (BsmI and FokI) and FMF susceptibility in a cohort of Egyptian FMF patients and to correlate these polymorphisms with different clinical and laboratory features of the disease. Methods: 50 patients FMF being followed in Pediatric Rheumatology clinic, Cairo University, were studied. Patients and 40 age matched controls were genotyped for BsmI and FokI polymorphisms by Real time Polymerase Chain Reaction (PCR) technique. Results: There was no significant difference between patients and controls for VDR BsmI and FokI genotypes, alleles, haplotypes (p> 0.05).No association was found of BsmI or FokI genotypes with some performed disease determinants except for a marginal association between CC , CT of BsmI and occurrence of abdominal pain (p = 0.047). Conclusion: Our study showed that BsmI and FokI were not associated with FMF susceptibility but revealed a possible association between BsmI and occurrence of abdominal pain
Issued also as CD
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