الفهرس 
Relation between RANKL gene polymorphism and bone disease in ?-thalassemia patients
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Abstract
Background: Osteoporosis is a prominent cause of morbidity in patients with thalassemia major (TM) with a complex pathophysiology. Osteoprotegerin (OPG) and receptor activator of NF-kappa-B ligand (RANKL) have been recently implicated in the pathogenesis of various types of osteoporosis. Aims: To detect the possible role of the RANKL as a part of RANKL/OPG system by measuring the RANKL serum level (s-RANKL), detect the incidence of gene RANKL SNP rs9533156 polymorphism in thalassemia patients and assess the relation between RANKL gene polymorphism (SNP rs9533156), the RANKL serum level, and bone disease in Ý-thalassemia children. Patients and methods: In 60 Egyptian thalassemic patients and 60 healthy control children (age = 5-14 year), serum RANKL measured by ELIZA and RANKL single nucleotide polymorphisms (SNP rs9533156) detected by PCR-RFLP technique. The patients had recent results of BMD scanning using dual X-ray absorptiometry (DEXA). Results: High prevalence of bone diseases was detected in TM patients, 40% had spine low bone mass, 10% had femur low bone mass, 70% complained from bone pain, 21.7% had history of long bone fracture related to minor and intermediate trauma, and one patient had osteoporosis. The thalassemic patients showed no significant difference in levels of RANKL (P=0.37) as compared with controls, but significant lower OPG/RANKL ratio in patients than controls (P= < 0.000). We couldn{u2019}t demonstrate significant association between serum levels RANKL and BMD. Concerning RANKL SNP rs9533156 we found that the TC genotype occurred more frequently in thalassemic patients than controls (P =0.02) and the minor allele C was detected more in patients than controls without statistical significance (P=0.08). While there was no relation between RANKL SNP rs9533156 and BMD at any site of measurements