BsmI, ApaI and TaqI polymorphisms in the Vitamin D Receptor gene (VDR) and association with lumbar spine pathologies

An Italian case-control study

Alessandra Colombini, Marco Brayda-Bruno, Giovanni Lombardi, Samantha Jennifer Croiset, Cristina Ceriani, Cinzia Buligan, Mattia Barbina, Giuseppe Banfi, Sabina Cauci

Research output: Contribution to journalArticle

18 Citations (Scopus)

Abstract

Three adjacent single nucleotide polymorphisms of the Vitamin D receptor gene (VDR) BsmI (rs1544410), ApaI (rs7975232), and TaqI (rs731236) are commonly studied in several pathologies. We aimed to evaluate the distribution of VDR BsmI, ApaI, and TaqI allele, genotype, and haplotype frequencies in an Italian cohort of 266 patients with lumbar spine disorders assessed by Magnetic Resonance Imaging and 252 asymptomatic controls. The exposure to putative risk factors was evaluated by a questionnaire. Polymorphisms were detected by PCR-RFLP and TaqMan1 SNP Genotyping Assay. The results were statistically adjusted for the identified conventional risk factors. The three SNPs were in linkage disequilibrium. For all cases BbAaTT was a 3-fold risk factor OR = 3.38), whereas bbAATT (OR = 0.22), and bbaaTT (OR = 0.47) genotypes were found to be protective. Specifically, for patients affected by disc herniation only (n = 88) and all lumbar pathologies excluding stenosis and/or spondylolistesis (n = 215) B allele, Bb, Aa, and BbAaTT genotypes were risky, whereas b allele, bb, aa, and bbaaTT genotypes were protective. In patients affected by osteochondrosis with or without disc hernation (n = 50), T allele, Aa, and bbAaTT genotypes were risky, whereas t allele, AA, tt genotypes were protective. In patients affected by stenosis and/or spondylolistesis (n = 51) no significant associations were found. This is the first study showing an association of the three genetic VDR variants BsmI, ApaI, and TaqI and lumbar spine pathologies. Our study contributes to delineate genetic risk factors for specific subgroups of patients with lumbar spine pathologies highlighting the importance of haplotype analysis, and of detailed clinical evaluation of the patients for identification of genetic biomarkers.

Original languageEnglish
Article numbere0155004
JournalPLoS One
Volume11
Issue number5
DOIs
Publication statusPublished - May 5 2016

Fingerprint

lumbar spine
Calcitriol Receptors
Pathology
vitamin D
case-control studies
Polymorphism
Case-Control Studies
Spine
Genes
Genotype
Association reactions
genetic polymorphism
Alleles
receptors
genotype
alleles
risk factors
Single Nucleotide Polymorphism
genes
Haplotypes

ASJC Scopus subject areas

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

Cite this

BsmI, ApaI and TaqI polymorphisms in the Vitamin D Receptor gene (VDR) and association with lumbar spine pathologies : An Italian case-control study. / Colombini, Alessandra; Brayda-Bruno, Marco; Lombardi, Giovanni; Croiset, Samantha Jennifer; Ceriani, Cristina; Buligan, Cinzia; Barbina, Mattia; Banfi, Giuseppe; Cauci, Sabina.

In: PLoS One, Vol. 11, No. 5, e0155004, 05.05.2016.

Research output: Contribution to journalArticle

@article{3e912d0b42354e5ca4d9790bc802e5f7,
title = "BsmI, ApaI and TaqI polymorphisms in the Vitamin D Receptor gene (VDR) and association with lumbar spine pathologies: An Italian case-control study",
abstract = "Three adjacent single nucleotide polymorphisms of the Vitamin D receptor gene (VDR) BsmI (rs1544410), ApaI (rs7975232), and TaqI (rs731236) are commonly studied in several pathologies. We aimed to evaluate the distribution of VDR BsmI, ApaI, and TaqI allele, genotype, and haplotype frequencies in an Italian cohort of 266 patients with lumbar spine disorders assessed by Magnetic Resonance Imaging and 252 asymptomatic controls. The exposure to putative risk factors was evaluated by a questionnaire. Polymorphisms were detected by PCR-RFLP and TaqMan1 SNP Genotyping Assay. The results were statistically adjusted for the identified conventional risk factors. The three SNPs were in linkage disequilibrium. For all cases BbAaTT was a 3-fold risk factor OR = 3.38), whereas bbAATT (OR = 0.22), and bbaaTT (OR = 0.47) genotypes were found to be protective. Specifically, for patients affected by disc herniation only (n = 88) and all lumbar pathologies excluding stenosis and/or spondylolistesis (n = 215) B allele, Bb, Aa, and BbAaTT genotypes were risky, whereas b allele, bb, aa, and bbaaTT genotypes were protective. In patients affected by osteochondrosis with or without disc hernation (n = 50), T allele, Aa, and bbAaTT genotypes were risky, whereas t allele, AA, tt genotypes were protective. In patients affected by stenosis and/or spondylolistesis (n = 51) no significant associations were found. This is the first study showing an association of the three genetic VDR variants BsmI, ApaI, and TaqI and lumbar spine pathologies. Our study contributes to delineate genetic risk factors for specific subgroups of patients with lumbar spine pathologies highlighting the importance of haplotype analysis, and of detailed clinical evaluation of the patients for identification of genetic biomarkers.",
author = "Alessandra Colombini and Marco Brayda-Bruno and Giovanni Lombardi and Croiset, {Samantha Jennifer} and Cristina Ceriani and Cinzia Buligan and Mattia Barbina and Giuseppe Banfi and Sabina Cauci",
year = "2016",
month = "5",
day = "5",
doi = "10.1371/journal.pone.0155004",
language = "English",
volume = "11",
journal = "PLoS One",
issn = "1932-6203",
publisher = "Public Library of Science",
number = "5",

}

TY - JOUR

T1 - BsmI, ApaI and TaqI polymorphisms in the Vitamin D Receptor gene (VDR) and association with lumbar spine pathologies

T2 - An Italian case-control study

AU - Colombini, Alessandra

AU - Brayda-Bruno, Marco

AU - Lombardi, Giovanni

AU - Croiset, Samantha Jennifer

AU - Ceriani, Cristina

AU - Buligan, Cinzia

AU - Barbina, Mattia

AU - Banfi, Giuseppe

AU - Cauci, Sabina

PY - 2016/5/5

Y1 - 2016/5/5

N2 - Three adjacent single nucleotide polymorphisms of the Vitamin D receptor gene (VDR) BsmI (rs1544410), ApaI (rs7975232), and TaqI (rs731236) are commonly studied in several pathologies. We aimed to evaluate the distribution of VDR BsmI, ApaI, and TaqI allele, genotype, and haplotype frequencies in an Italian cohort of 266 patients with lumbar spine disorders assessed by Magnetic Resonance Imaging and 252 asymptomatic controls. The exposure to putative risk factors was evaluated by a questionnaire. Polymorphisms were detected by PCR-RFLP and TaqMan1 SNP Genotyping Assay. The results were statistically adjusted for the identified conventional risk factors. The three SNPs were in linkage disequilibrium. For all cases BbAaTT was a 3-fold risk factor OR = 3.38), whereas bbAATT (OR = 0.22), and bbaaTT (OR = 0.47) genotypes were found to be protective. Specifically, for patients affected by disc herniation only (n = 88) and all lumbar pathologies excluding stenosis and/or spondylolistesis (n = 215) B allele, Bb, Aa, and BbAaTT genotypes were risky, whereas b allele, bb, aa, and bbaaTT genotypes were protective. In patients affected by osteochondrosis with or without disc hernation (n = 50), T allele, Aa, and bbAaTT genotypes were risky, whereas t allele, AA, tt genotypes were protective. In patients affected by stenosis and/or spondylolistesis (n = 51) no significant associations were found. This is the first study showing an association of the three genetic VDR variants BsmI, ApaI, and TaqI and lumbar spine pathologies. Our study contributes to delineate genetic risk factors for specific subgroups of patients with lumbar spine pathologies highlighting the importance of haplotype analysis, and of detailed clinical evaluation of the patients for identification of genetic biomarkers.

AB - Three adjacent single nucleotide polymorphisms of the Vitamin D receptor gene (VDR) BsmI (rs1544410), ApaI (rs7975232), and TaqI (rs731236) are commonly studied in several pathologies. We aimed to evaluate the distribution of VDR BsmI, ApaI, and TaqI allele, genotype, and haplotype frequencies in an Italian cohort of 266 patients with lumbar spine disorders assessed by Magnetic Resonance Imaging and 252 asymptomatic controls. The exposure to putative risk factors was evaluated by a questionnaire. Polymorphisms were detected by PCR-RFLP and TaqMan1 SNP Genotyping Assay. The results were statistically adjusted for the identified conventional risk factors. The three SNPs were in linkage disequilibrium. For all cases BbAaTT was a 3-fold risk factor OR = 3.38), whereas bbAATT (OR = 0.22), and bbaaTT (OR = 0.47) genotypes were found to be protective. Specifically, for patients affected by disc herniation only (n = 88) and all lumbar pathologies excluding stenosis and/or spondylolistesis (n = 215) B allele, Bb, Aa, and BbAaTT genotypes were risky, whereas b allele, bb, aa, and bbaaTT genotypes were protective. In patients affected by osteochondrosis with or without disc hernation (n = 50), T allele, Aa, and bbAaTT genotypes were risky, whereas t allele, AA, tt genotypes were protective. In patients affected by stenosis and/or spondylolistesis (n = 51) no significant associations were found. This is the first study showing an association of the three genetic VDR variants BsmI, ApaI, and TaqI and lumbar spine pathologies. Our study contributes to delineate genetic risk factors for specific subgroups of patients with lumbar spine pathologies highlighting the importance of haplotype analysis, and of detailed clinical evaluation of the patients for identification of genetic biomarkers.

UR - http://www.scopus.com/inward/record.url?scp=84986232216&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84986232216&partnerID=8YFLogxK

U2 - 10.1371/journal.pone.0155004

DO - 10.1371/journal.pone.0155004

M3 - Article

VL - 11

JO - PLoS One

JF - PLoS One

SN - 1932-6203

IS - 5

M1 - e0155004

ER -