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The Impact of Vitamin D Receptor Single Nucleotide Polymorphism on 1.25 (OH) Vitamin D3 and Bone Mineral Density in Egyptian Children with Beta-thalassemia

Eman AE Badr, Samah Ibrahim EL-Ghlban, Mahmoud Ahmed El-Hawy, Sara Hamdey Mohamed Elsaadany and Ibrahim El Tantawy El Sayed

Background: Vitamin D Receptor (VDR) gene variation may associate with dysfunctions of vitamin D. The aim of this study is to evaluate VDR variation and its relation with Bone Mineral Density (BMD) values in Beta-thalassemia.

Methods: The children included in this study divided into two groups, 76 TM children, and 51 ages and sex matched healthy controls. All children subjected to full history taking, clinical examination. Liver and kidney functions, serum calcium, phosphorous, alkaline phosphatase and vitamin D levels measurement. BMD was determined. VDR rs2228570 SNP was assayed by real time PCR.

Results: There was a significant increase in phosphorus, alkaline phosphatase, frequency of the TT genotype and T allele of rs2228570 SNP of VDR and decrease in calcium, vitamin D levels and BMD in patients group. There was a significant increase of vitamin D levels and decrease in patients with TT genotype than both TC and CC. Also, There were significant increase in number and % of osteopenia and osteoporosis in patients group with TT genotype than both TC and CC (p<0.001).

Conclusion: TT genotype and T allele affect vitamin D level, function and associated with decrease BMD and high frequency of osteopenia and osteoporosis in children with Beta thalassemia.