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Vitamin D receptor gene polymorphism in patients with osteomalacic myopathy in Egypt.
- Source :
-
Neurological Sciences . 2021, Vol. 42 Issue 3, p1031-1037. 7p. 1 Color Photograph, 1 Black and White Photograph, 5 Charts, 1 Graph. - Publication Year :
- 2021
-
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]
Details
- Language :
- English
- ISSN :
- 15901874
- Volume :
- 42
- Issue :
- 3
- Database :
- Academic Search Index
- Journal :
- Neurological Sciences
- Publication Type :
- Academic Journal
- Accession number :
- 148565935
- Full Text :
- https://doi.org/10.1007/s10072-020-04622-z