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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.

BsmI, ApaI and TaqI Polymorphisms in the Vitamin D Receptor Gene (VDR) and Association with Lumbar Spine Pathologies: An Italian Case-Control Study