Association of rs2228570 polymorphism of vitamin D receptor gene with lumbar degenerative disc disease

Abstract

AIM: To investigate the association between the vitamin D receptor (VDR) gene rs2228570 FokI polymorphism and the development of lumbar degenerative disc disease (LDDD) in the Turkish population. MATERIAL and METHODS: This was a prospective case-control study that included 45 patients with LDDD and 49 healthy individuals (control group). The clinical investigations of the LDDD patients consisted of neurological examinations, lumbar magnetic resonance imaging studies, visual analog scale (VAS) scores, and Oswestry Disability Index scores. The VDR gene rs2228570 FokI polymorphism was analyzed via a real-time polymerase chain reaction. RESULTS: Individuals with the VDR GG genotype had a significantly increased risk of LDDD, while those with the AG genotype had a significantly decreased risk. In addition, the A allele may have a protective effect against LDDD in the Turkish population. Moreover, the VAS pain results showed that the GG genotype had a significantly higher score than the others. CONCLUSION: VDR rs2228570 AG genotype is at a decreased risk and the GG genotype is at an increased risk of LDDD in the Turkish population. Since genetic polymorphisms often show ethnic differences, further functional studies are needed to evaluate the genotype and phenotype correlations in large cohorts of various ethnicities.