Analysis of FokI polymorphism of vitamin D receptor gene in intervertebral disc degeneration

Abstract

Aim: We have hypothesized a possible relationship between disc degeneration (DD) and VDR FokI/T2C polymorphism.

Methods: A case-control study was performed comprising 121 Brazilian patients with confirmed DD by nuclear magnetic resonance and a control group consisting of 131 healthy patients without a history of disc cysts of the lumbar spine. Detection of VDR FokI/T2C polymorphism was performed using restriction fragment length polymorphism-polymerase chain reaction. The chi-square test was used to compare allele and genotype frequencies between groups, and a p-value of <0.05 was considered statistically significant.

Results: The results disclosed statistical difference between allele distribution among cases and controls (p=0.025, odds ratio=1.58, confidence interval=1.07-2.32) considering VDR FokI/T2C polymorphism.

Conclusion: The results showed a positive association between VDR FokI/T2C polymorphism and DD in Brazilian patients tested.

FIG. 1.

The figure shows a 2% agarose gel representative of the VDR Fok1 polymorphism, where (M) is the DNA ladder 50pb, (1) is a mutated subject (CC), (2) is a wild homozygote (TT), and (3) is a heterozygous subject (CT).