Association of TaqI (rs731236) polymorphism of vitamin D receptor gene with lumbar degenerative disc disease

Abstract

Background: Lumbar degenerative disc disease (LDDD) significantly contributes to low back pain, with a complicated etiology involving genetic and environmental facts. The aim of study was to investigate the association between the TaqI (rs731236) polymorphism of the vitamin D receptor (VDR) gene with LDDD. Methods: In total, 248 patients with symptomatic LDDD and 146 control subjects were examined. The evaluation of clinical features of patients with LDDD comprised radiodiagnostic magnetic resonance imaging, neurologic examinations, pain scores including the visual analog scale (VAS), and disability investigation with Oswestry Disability Index (ODI). Genotyping of the VDR gene polymorphism was conducted using polymerase chain reaction–based methods. Results: Individuals of the LDDD group who were VDR TaqI AA genotype carriers were significantly greater than the other group (P = 0.014), whereas those with GG genotype were significantly lower (P = 0.028) in the patient group. In addition, VAS and ODI scores were significantly lower in the GG genotype carrier group, whereas AA genotype carriers had the greatest scores (P = 0.004). Carrying the G allele decreased the risk of LDDD 1.7 times (P = 0.014) and carrying the A allele enhanced the risk 1.8 times (P = 0.028). Moreover, G-allele carriers had significantly lower VAS (P = 0.002) and ODI scores (P < 0.0001). Conclusions: VDR TaqI (rs731236) GG genotype and G allele have protective potential, whereas the AA genotype and A allele are risk factors for LDDD. The findings reveal a statistically significant association of the TaqI (rs731236) polymorphism of VDR gene polymorphism with LDDD. This result highlights the potential role of genetic factors in developing LDDD and suggests avenues for future research in genetic screening and personalized treatment strategies.