title: FokI polymorphism in the vitamin D receptor gene (VDR) and its association with lumbar spine pathologies in the Italian population: a case-control study.
abstract: Alterations in vitamin D homeostasis, mainly involving its nuclear receptor (VDR), could have a role in the pathophysiology of the spine. The association between VDR polymorphisms and spine disorders has been analyzed in different ethnic groups, focusing on the functional FokI polymorphism. However, so far, inconsistent findings were reported. The aims of this study were to evaluate, in the Italian white population, the VDR FokI polymorphism frequencies distribution in subjects with clearly defined lumbar spinal pathologies compared to asymptomatic controls and to analyze the interplay of genetic and conventional risk factors. Using a case-control design, 267 patients with spinal disorders and 220 asymptomatic controls were enrolled, evaluating their exposition to putative risk factors. Patients' clinical assessment was performed by Magnetic Resonance Imaging. FokI polymorphism (rs2228570) was detected by PCR-RFLP. Genotypes were designated by a lowercase letter (f allele, T nucleotide) for the presence of the restriction site and by a capital letter (F allele, C nucleotide) for its absence. Family history, higher age and BMI, exposure to vibration, physical job demand, smoking habit and lower practice of leisure physical activity were associated with spinal disorders. The FF genotype and F allele represented approximately 2-fold risk factors to develop discopathies and/or osteochondrosis concomitant with disc herniation, while f allele was protective. In conclusion, the link we observed between VDR FokI variants and specific lumbar spine pathologies suggests that spinal tissue degeneration is influenced by the genetic background. Future studies should evaluate the signaling pathways involving alterations in VDR and influencing the development and/or progression of spine disorders.
authors.affiliation: Laboratory of Experimental Biochemistry and Molecular Biology, I.R.C.C.S. Istituto Ortopedico Galeazzi, Milano, Italy.
authors.forename: Alessandra
authors.initials: A
authors.lastname: Colombini
authors.affiliation: Department of Orthopedics and Traumatology - Vertebral surgery III - Scoliosis, I.R.C.C.S. Istituto Ortopedico Galeazzi, Milano, Italy.
authors.forename: Marco
authors.initials: M
authors.lastname: Brayda-Bruno
authors.affiliation: Laboratory of Experimental Biochemistry and Molecular Biology, I.R.C.C.S. Istituto Ortopedico Galeazzi, Milano, Italy.
authors.forename: Giovanni
authors.initials: G
authors.lastname: Lombardi
authors.affiliation: Laboratory of Experimental Biochemistry and Molecular Biology, I.R.C.C.S. Istituto Ortopedico Galeazzi, Milano, Italy.
authors.forename: Samantha Jennifer
authors.initials: SJ
authors.lastname: Croiset
authors.affiliation: Department of Medical and Biological Sciences, University of Udine, Udine, Italy.
authors.forename: Valentina
authors.initials: V
authors.lastname: Vrech
authors.affiliation: Department of Medical and Biological Sciences, University of Udine, Udine, Italy.
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Maione
authors.affiliation: Laboratory of Experimental Biochemistry and Molecular Biology, I.R.C.C.S. Istituto Ortopedico Galeazzi, Milano, Italy; Department of Biomedical Sciences for Health, University of Milano, Milano, Italy.
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Banfi
authors.affiliation: Department of Medical and Biological Sciences, University of Udine, Udine, Italy.
authors.forename: Sabina
authors.initials: S
authors.lastname: Cauci
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D058070:Asymptomatic Diseases; D001519:Behavior; D016022:Case-Control Studies; D004777:Environment; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D007558:Italy; D008159:Lumbar Vertebrae; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic; D018167:Receptors, Calcitriol / Q000235:genetics*; D012307:Risk Factors; D013122:Spinal Diseases / Q000235:genetics*; D055815:Young Adult
chemical_list: D018167:Receptors, Calcitriol