Turkish Neurosurgery
Association of rs2228570 Polymorphism of Vitamin D Receptor Gene with Lumbar Degenerative Disc Disease
Selçuk Özdoğan1, Cumhur Kaan Yaltırık2, Seda Güleç Yılmaz3, Ayhan Koçak1, Turgay İsbir3
1Istanbul Training and Research Hospital, Neurosurgery, Istanbul,
2Yeditepe University School of Medicine, Neurosurgery, Istanbul,
3Yeditepe University School of Medicine, Molecular Medicine, Istanbul,
DOI: 10.5137/1019-5149.JTN.22275-17.2

Aim:Lumbar degenerative disc disease (LDDD) is the most common cause of lower back pain (LBP) and sciatica. The vitamin D receptor (VDR) gene, which is located on chromosome 12 (12q12–q14), was the first gene reported to be potentially related to intervertebral degenerative disc disease risks. We conducted a case-control study of a Turkish population and investigated the association between the VDR gene rs2228570 FokI polymorphism and the development of LDDD.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:We found that the 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:Our results suggested that the VDR rs2228570 AG genotype was at a decreased risk and the GG genotype was 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.

Corresponding author : Selçuk Özdoğan