Association of VDBP rs4701 Variant, but not VDR/RXR -α Over-Expression with Bone Mineral Density in Pediatric Well-Chelated β-Thalassemia Patients

Mediterranean Journal of Hematology and Infectious Diseases
Shaimaa SahmoudSamar Elfiky

Abstract

The reduced rate of bone formation despite the availability of vitamin D has been reported in β-thalassemia. Genetic factors, together with environmental ones, could be implicated in this condition. Since vitamin D binding protein (VDBP) maintains bioavailability of vitamin D which binds to vitamin D receptor (VDR)-retinoid X receptor alpha (RXRA) heterodimer to exert its molecular actions, we speculated that vitamin D metabolic-axis expression signature and variants could be potential molecular candidates for bone turnover/disease in thalassemia. To this end, this study aims to analyze VDR/RXRA expression signature, and two VDBP variants in a pilot sample of Egyptian β-thalassemia children in correlation with bone mineral density (BMD). Forty-four well-chelated β-thalassemia children and 40 unrelated controls were enrolled. The serum bone chemistry profile was measured. Peripheral blood mononuclear cells (PBMN) VDR/RXRA expression levels were quantified by Real-Time quantitative reverse transcription-polymerase chain reaction (qRT-PCR). VDBP rs7041 and rs4588 variants were identified by Real-Time allelic discrimination assay. All patients were subjected to lumbar-spine Dual-energy X-ray absorptiometry (DEXA). VDR/RXRA expressi...Continue Reading

Citations

Oct 28, 2020·International Journal of Molecular Sciences·Dominika RozmusAnna Cieślińska

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Methods Mentioned

BETA
ELISA
X-ray
PCR
genotyping
Assay

Software Mentioned

R
GE enCORE
Statistical Package for the Social Sciences ( SPSS )
GraphPad prism

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