ArticlePloS one2014
FokI polymorphism in the vitamin D receptor gene (VDR) and its association with lumbar spine pathologies in the Italian population: a case-control study.
Article in PloS one, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers, 5 of them syntheses that pooled it.
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Who cites it
34 citing papers in PubMed, 5 syntheses or guidelines pooled it, 64 citations in OpenAlex.
- Percutaneous transforaminal endoscopic discectomy in patients with lumbar disc herniation: a meta-analysis.European journal of orthopaedic surgery & traumatology : orthopedie traumatologie · 2025Pooled it
- Association ofMedicina (Kaunas, Lithuania) · 2025Pooled it
- Vitamin D receptor gene polymorphisms and lumbar disc degeneration: a systematic review and meta-analysis.European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society · 2017Pooled it
- Is smoking a risk factor for lumbar disc herniation?European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society · 2016Pooled it
- Association Between VDR FokI Polymorphism and Intervertebral Disk Degeneration.Genomics, proteomics & bioinformatics · 2015Pooled it
- Article
- Rheumatoid Arthritis and Osteoporosis as Prototypes of Immunosenescence in Osteoimmunology: Molecular Pathways of Inflammaging and Targeted Therapies.International journal of molecular sciences · 2025Review
- Article
- Lumbar disc herniation is an independent predictor of plaque burden in the patients with unstable angina.Frontiers in cardiovascular medicine · 2024Article
- Targeting Autophagy for Developing New Therapeutic Strategy in Intervertebral Disc Degeneration.Antioxidants (Basel, Switzerland) · 2022Review
- Relationship Between Vitamin D Receptor Gene BsmI Polymorphism and Fibromyalgia Syndrome.Cureus · 2022Article
- High-Throughput Gene and Protein Analysis Revealed the Response of Disc Cells to Vitamin D, Depending on the VDR FokI Variants.International journal of molecular sciences · 2021Article
- Classification of endplate lesions in the lumbar spine and association with risk factors, biochemistry, and genetics.European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society · 2021Observational
- Article
- Vitamin D Receptor gene polymorphisms and plasma levels are associated with lumbar disc degeneration.Scientific reports · 2019Observational
- The Preoperative Supplementation With Vitamin D Attenuated Pain Intensity and Reduced the Level of Pro-inflammatory Markers in Patients After Posterior Lumbar Interbody Fusion.Frontiers in pharmacology · 2019Article
- Association of CILP, COL9A2 and MMP3 Gene Polymorphisms with Lumbar Disc Degeneration in an Indian Population.Journal of molecular neuroscience : MN · 2018Article
- Vitamin D's Effect on the Proliferation and Inflammation of Human Intervertebral Disc Cells in Relation to the Functional Vitamin D Receptor Gene FokI Polymorphism.International journal of molecular sciences · 2018Article
- Influence of lifestyle characteristics and VDR polymorphisms as risk factors for intervertebral disc degeneration: a case-control study.European journal of medical research · 2018Article
- Genetic background of degenerative disc disease in the lumbar spine.Spine surgery and related research · 2018Review
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
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.
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