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.
Keywords: ApaI; BsmI; FokI; Osteomalacic myopathy; Vitamin D deficiency; Vitamin D receptor gene.