Bibliographic Details
| Title: |
Vitamin D receptor gene polymorphism in patients with osteomalacic myopathy in Egypt. |
| Authors: |
Shokri, Hossam M.1 (AUTHOR) hossam.shokri@med.asu.edu.eg, Mohamed, Karim O.1 (AUTHOR), Fahmy, Nagia A.1 (AUTHOR), Mostafa, Ahmed O.2 (AUTHOR), Ghareeb, Ahmed3 (AUTHOR) |
| Source: |
Neurological Sciences. 2021, Vol. 42 Issue 3, p1031-1037. 7p. 1 Color Photograph, 1 Black and White Photograph, 5 Charts, 1 Graph. |
| Subject Terms: |
*VITAMIN D receptors, *GENETIC polymorphisms, *MUSCLE diseases, *SINGLE nucleotide polymorphisms, *VITAMIN D, *NEMALINE myopathy |
| Geographic Terms: |
EGYPT |
| 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] |
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