Abstract
Recently, the FokI polymorphism (rs2228570) in the vitamin D receptor gene (VDR) and conventional risk factors were associated with spine disorders in the Italian population, but without gender analysis. Two-hundred and sixty-seven patients (149 males, 118 females) with lumbar spine disorders were assessed by magnetic resonance imaging (MRI) and 254 (127 males, 127 females) asymptomatic controls were enrolled. The exposure to putative risk factors was evaluated and FokI polymorphism was detected by PCR-restriction fragment length polymorphism (PCR-RFLP). An association between lumbar spine pathologies and higher than average age; overweight; family history; lower leisure physical activity; smoking habit; higher number of hours/day exposure to vibration and more sedentary or intense physical job demand was observed in male patients. In contrast, in females, only higher age, overweight, family history and lower leisure physical activity were risk factors. FF genotype was a 2-fold risk factor to develop discopathies and/or osteochondrosis concomitant with disc herniation for both gender patients, while heterozygous Ff was protective for females only. In males only ff genotype was protective for discopathies and/or osteochondrosis and F allele was a 2-fold risk factor for hernia; discopathies; discopathies and/or osteochondrosis. Sex-related differences in voluntary behaviors, exposure to environmental risks and genetic background could be crucial for a gender-differentiated management of patients with spine disorders.
Highlights
Since 1998 the vitamin D receptor gene (VDR) has been studied as a genetic factor putatively predisposing to spine pathologies [1,2]
In an Italian case-control study, we reported that the VDR-FokI polymorphism and conventional, behavioral and environmental factors were associated with lumbar spine pathologies [21]
The aims of this study were to evaluate in VDR-FokI frequency distributions and conventional risk factors separately in Italian males and females with specific lumbar spine pathologies compared to asymptomatic controls
Summary
Since 1998 the vitamin D receptor gene (VDR) has been studied as a genetic factor putatively predisposing to spine pathologies [1,2]. The allelic variants of this exonic polymorphism code for a structurally different receptor protein, from a 424 amino acids long wild-type encoded by the F allele (C) to a 427 amino acids long protein produced by the f allele (T), associated to a different efficiency of VDR binding with the transcription factor II B (TFIIB) [4,5] This results in a different ability to induce transcription of vitamin D-dependent genes with the shorter wild-type protein interacting more efficiently with TFIIB and showing a higher transcriptional rate [3,6]. Based on these studies, investigations concerning the possible association of the VDR-FokI polymorphism with disc degeneration may be interesting. Recent findings detected the presence of VDR in the human intervertebral disc nucleus pulposus and annulus fibrosus cells and showed that vitamin D active metabolites regulate proliferation, matrix genes expression and specific cytokine and protein production of disc cells [12,13]
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