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Neurological Sciences

Erschienen in:

26.07.2020 | Original Article

Vitamin D receptor gene polymorphism in patients with osteomalacic myopathy in Egypt

verfasst von: Hossam M. Shokri, Karim O. Mohamed, Nagia A. Fahmy, Ahmed O. Mostafa, Ahmed Ghareeb

Erschienen in: Neurological Sciences | Ausgabe 3/2021

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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.

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Titel: Vitamin D receptor gene polymorphism in patients with osteomalacic myopathy in Egypt
verfasst von: Hossam M. Shokri
Karim O. Mohamed
Nagia A. Fahmy
Ahmed O. Mostafa
Ahmed Ghareeb
Publikationsdatum: 26.07.2020
Verlag: Springer International Publishing
Erschienen in: Neurological Sciences / Ausgabe 3/2021
Print ISSN: 1590-1874
Elektronische ISSN: 1590-3478
DOI: https://doi.org/10.1007/s10072-020-04622-z

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Vitamin D receptor gene polymorphism in patients with osteomalacic myopathy in Egypt

Abstract

Introduction

Methods

Results

Conclusion

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Abstract

Introduction

Methods

Results

Conclusion

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