الفهرس 
Role of vitamin D receptor gene polymorphisms (BsmI and FokI) in Egyptian children with Familial Mediterranean fever
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Abstract
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