1. Vitamin D receptor gene polymorphism in patients with osteomalacic myopathy in Egypt.
- Author
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Shokri, Hossam M., Mohamed, Karim O., Fahmy, Nagia A., Mostafa, Ahmed O., and Ghareeb, Ahmed
- Subjects
VITAMIN D receptors ,GENETIC polymorphisms ,MUSCLE diseases ,SINGLE nucleotide polymorphisms ,VITAMIN D ,NEMALINE myopathy - Abstract
Introduction: Vitamin D works by binding to vitamin D receptor (VDR). The muscle involvement in hypovitaminosis D was broadly named osteomalacic myopathy. Methods: A case control study involved 20 female patients diagnosed with osteomalacic myopathy compared with 15 age-matched healthy female controls. We assessed both for VDR genotype single-nucleotide polymorphisms (SNP) at 3 sites (ApaI, BsmI, and FokI). Results: ApaI and BsmI genotypes distribution in both groups showed non-significant difference unlike FokI genotypes in which we found significantly higher percentages of single allele mutation in patients vs. controls. Conclusion: The relation of VDR gene SNPs to muscle function was studied before but in healthy subjects. We tried to correlate if presence/absence of a certain mutation is responsible for the appearance of osteomalacic myopathy. [ABSTRACT FROM AUTHOR]
- Published
- 2021
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