Fokl polymorphism in the vitamin D receptor gene (VDR) and its association with lumbar spine pathologies in the Italian population: A case-control study

Alessandra Colombini, Marco Brayda-Bruno, Giovanni Lombardi, Samantha Jennifer Croiset, Valentina Vrech, Vincenzo Maione, Giuseppe Banfi, Sabina Cauci

Research output: Contribution to journalArticle

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.

Original languageEnglish
Article numbere97027
JournalPLoS One
Volume9
Issue number5
DOIs
Publication statusPublished - May 8 2014

Fingerprint

lumbar spine
Calcitriol Receptors
Pathology
vitamin D
case-control studies
Polymorphism
Case-Control Studies
Spine
Genes
genetic polymorphism
receptors
Alleles
spine (bones)
Population
alleles
risk factors
genes
Nucleotides
Genotype
Osteochondrosis

ASJC Scopus subject areas

  • Agricultural and Biological Sciences(all)
  • Biochemistry, Genetics and Molecular Biology(all)
  • Medicine(all)

Cite this

Fokl polymorphism in the vitamin D receptor gene (VDR) and its association with lumbar spine pathologies in the Italian population : A case-control study. / Colombini, Alessandra; Brayda-Bruno, Marco; Lombardi, Giovanni; Croiset, Samantha Jennifer; Vrech, Valentina; Maione, Vincenzo; Banfi, Giuseppe; Cauci, Sabina.

In: PLoS One, Vol. 9, No. 5, e97027, 08.05.2014.

Research output: Contribution to journalArticle

@article{61a93d6a539a495ca7ecf1fa9d4a468c,
title = "Fokl 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.",
author = "Alessandra Colombini and Marco Brayda-Bruno and Giovanni Lombardi and Croiset, {Samantha Jennifer} and Valentina Vrech and Vincenzo Maione and Giuseppe Banfi and Sabina Cauci",
year = "2014",
month = "5",
day = "8",
doi = "10.1371/journal.pone.0097027",
language = "English",
volume = "9",
journal = "PLoS One",
issn = "1932-6203",
publisher = "Public Library of Science",
number = "5",

}

TY - JOUR

T1 - Fokl polymorphism in the vitamin D receptor gene (VDR) and its association with lumbar spine pathologies in the Italian population

T2 - A case-control study

AU - Colombini, Alessandra

AU - Brayda-Bruno, Marco

AU - Lombardi, Giovanni

AU - Croiset, Samantha Jennifer

AU - Vrech, Valentina

AU - Maione, Vincenzo

AU - Banfi, Giuseppe

AU - Cauci, Sabina

PY - 2014/5/8

Y1 - 2014/5/8

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=84901003944&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84901003944&partnerID=8YFLogxK

U2 - 10.1371/journal.pone.0097027

DO - 10.1371/journal.pone.0097027

M3 - Article

C2 - 24810167

AN - SCOPUS:84901003944

VL - 9

JO - PLoS One

JF - PLoS One

SN - 1932-6203

IS - 5

M1 - e97027

ER -