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 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.

FokI vitamin D receptor gene polymorphism and serum 25-hydroxyvitamin D in patients with cardiovascular risk

“…Second, FokI polymorphism is more frequent in subjects with cardiovascular risk factors than in the general Caucasian population. FokI SNP extends the length of the receptor protein from 424 to 427 amino acid residues [37]. The current study, by its exploratory nature, cannot provide definitive evidence, and further epidemiological studies are needed to assess the association between FokI polymorphism and cardiovascular risk.…”

Immunohistochemical evaluation of vitamin D receptor (VDR) expression in cutaneous melanoma tissues and four VDR gene polymorphisms

“…Absence or presence of restriction site was denoted by a capital or lower letter, respectively: “F” and “f” for FokI, “B” and “b” for BsmI, “A” and “a” for ApaI, and “T” and “t” for TaqI endonucleases 28,29 . FokI, BsmI, ApaI and TaqI polymorphisms of VDR were studied using previously tested primers 29,45 to amplify appropriate DNA fragments.…”

BsmI (rs1544410) and FokI (rs2228570) vitamin D receptor polymorphisms, smoking, and body mass index as risk factors of cutaneous malignant melanoma in northeast Italy

“…VDR -BsmI G>A and VDR -FokI C>T polymorphisms were determined, as described in Refs. 38 , 39 , after extraction of genomic DNA from ethylenediaminetetraacetic-acid-treated venous blood samples 40 . Genotypes were designated according to absence/presence of the BsmI or FokI enzyme restriction site by a capital letter B allele, or F allele for absence, and by a lowercase letter b allele, or f allele for presence, respectively 41 .…”