Vitamin D Receptor (VDR) Gene Polymorphisms (FokI, BsmI) and their Relation to Vitamin D Status in Pediatrics βeta Thalassemia Major

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• 作者：Shereen Mohamed Elhoseiny…
• 关键词：VDR polymorphism ; FokI ; BsmI ; 25 (OH) vitamin D3 ; Thalassemia ; PCR–RFLP
• 刊名：Indian Journal of Hematology and Blood Transfusion
• 出版年：2016
• 出版时间：June 2016
• 年：2016
• 卷：32
• 期：2
• 页码：228-238
• 全文大小：506 KB
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• 作者单位：Shereen Mohamed Elhoseiny (1)
  Dalia Saber Morgan (2)
  Asmaa Mohamed Rabie (3)
  Samer Tharwat Bishay (3)
  
  1. Department of Clinical and Chemical Pathology, Beni Suef Teaching Hospital, Beni Suef University, El Beah st. no.9057, Mokattam, Cairo, Egypt
  2. Department of Pediatrics, Beni Suef Teaching Hospital, Beni Suef University, Beni Suef, Egypt
  3. Department of Pediatrics, Beni Suef General Hospital, Beni Suef, Egypt
  
• 刊物主题：Hematology; Oncology; Blood Transfusion Medicine; Human Genetics;
• 出版者：Springer India
• ISSN：0974-0449

文摘

Vitamin D is critical for calcium, phosphate homeostasis and for mineralization of the skeleton, especially during periods of rapid growth. Vitamin D Deficiency leads to rickets (in children) and osteomalacia (in adults). Expression and activation of the vitamin D receptor (VDR) are necessary for the effects of vitamin D, in which several single nucleotide polymorphisms have been identified especially (FokI, BsmI). In this study serum 25 (OH) vitamin D3 levels were estimated by Enzyme Linked Immunosorbent Assay [ELISA], VDR (FokI, BsmI) gene polymorphisms were analyzed by polymerase chain reaction-restriction fragment length polymorphism assay [PCR–RFLP].Serum levels of calcium, phosphorus, alkaline phosphatase and ferritin were determined in 50 Pediatrics beta thalassemia major patients and 60 controls. Patients had significantly lower serum calcium (p < 0.001) lower serum vitamin D3 (p < 0.001) with elevated levels of phosphorus (p < 0.001) and alkaline phosphatase than controls (p = 0.04). Of the patients studied, 60 % had vitamin D deficiency (<20 ng/ml), 20 % had vitamin D insufficiency (21–30 ng/ml) and 20 % had sufficient vitamin D status (>30 ng/ml). Patients harboring mutant (Ff,ff) and wild (BB) genotypes were associated with lower serum calcium (p = 0.08, 0.02) respectively, lower vitamin D3 levels (p < 0.001, 0.01) respectively. They were also suffering from more bony complications although the difference was not statistically significant (p > 0.05). In conclusion, these results suggest that the VDR (FokI, BsmI) gene polymorphisms influence vitamin D status, (Ff,ff), BB genotypes had lower vitamin D levels, so they might influence risk of development of bone diseases in beta thalassemia major.