ArticlePloS one2016
BsmI, ApaI and TaqI Polymorphisms in the Vitamin D Receptor Gene (VDR) and Association with Lumbar Spine Pathologies: An Italian Case-Control Study.
Article in PloS one, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers, 4 of them syntheses that pooled it.
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Who cites it
31 citing papers in PubMed, 4 syntheses or guidelines pooled it, 70 citations in OpenAlex.
- Association ofMedicina (Kaunas, Lithuania) · 2025Pooled it
- The role of TaqI, ApaI and BsmI polymorphisms of VDR gene in lumbar spine pathologies: 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 · 2021Pooled it
- The role of single nucleotide polymorphisms ofF1000Research · 2021Pooled 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
- Vitamin D Receptor Polymorphisms and the Effect of Vitamin D Supplementation on Diabetes Risk Among Adults With Prediabetes.JAMA network open · 2026Trial
- Genetic Polymorphisms of Vitamin D Receptor and Immune-Metabolic Mechanisms in Recurrent Pregnancy Loss: Narrative Review.Biology · 2026Review
- Vitamin D receptor (ApaI/BsmI) polymorphisms, human leukocyte antigen-DQB2/DRB3 sub-alleles, and endoplasmic reticulum stress: unravelling their interplay in the pathogenesis of Graves' disease in a tertiary care centre.Molecular biology reports · 2026Article
- Vitamin D in male reproduction: molecular mechanisms and pharmacological perspectives.Frontiers in pharmacology · 2026Review
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- Article
- Association of rs4516035 Polymorphism with Osteoporosis in the Southeastern Iranian Population: A Case-Control Study.Journal of research in health sciences · 2024Article
- Vitamin D status, vitamin D receptor gene polymorphism, and haplotype in patients with cutaneous leishmaniasis: Correlation with susceptibility and parasite load index.PLoS neglected tropical diseases · 2023Article
- Vitamin D Receptor Gene Polymorphisms and Association with Vitiligo in Indonesian Population.The application of clinical genetics · 2023Article
- Temporomandibular Disorders and Vitamin D Deficiency: What Is the Linkage between These Conditions? A Systematic Review.Journal of clinical medicine · 2022Review
- 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
- Lessons learned from the hypovitaminosis D kyphotic pig model.Journal of animal science · 2020Article
- In sickness and in health: pivotal role of vitamin D.Biochemia medica · 2020Review
- Interleukin 1 receptor antagonist gene variable number of tandem repeats polymorphism and cutaneous melanoma.Oncology letters · 2019Article
- Vitamin D Receptor gene polymorphisms and plasma levels are associated with lumbar disc degeneration.Scientific reports · 2019Observational
- Article
Corrections and comments
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Authors and funding
9 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
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 TaqMan® 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.
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