Analysis of genetic polymorphisms associated with intervertebral disc degeneration

Serkan Kitis,Ayse Gul Zamani,Pelin Tasdemir,Zeynep Mine Coskun,Ebru Tuncez,Aynur Acar

doi:10.14715/cmb/2018.64.10.10

Abstract

Intervertebral disc degeneration (IVDD) is a common degenerative spinal condition. Recent studies have shown that the incidence of disc herniation and disc degeneration may be explained by genetic factors. In this study, we investigated the link between various polymorphic variants of the vitamin D receptor (VDR), matrix metalloproteinase 2 (MMP2), and insulin like growth factor 1 receptor (IGF1R) genes and IVDD in patients with IVDD, in Turkey. We examined and genotyped 199 patients with IVDD and 197 healthy individuals. Genomic DNA was isolated from the peripheral blood leukocytes of all participants, and analyzed using real-time PCR. Via melting curve analysis, VDR, MMP2, and IGF1R polymorphism variant distributions were determined. The patients with IVDD showed higher frequencies of the VDR ApaI A allele genotype as compared to the control group; however, there were no significant differences in the frequencies or allelic distributions of the IGF1R and MMP2 genotypes between the IVDD patients and the control group. The incidence of IVDD in these Turkish patients is correlated with the VDR ApaI gene polymorphism, but not with the IGF1R and MMP2 polymorphisms.

Highlights

Lower back pain (LBP) negatively affects quality of life, increases the rate of sick leave, and is a leading cause of disability worldwide
We investigated the link between various polymorphic variants of the vitamin D receptor (VDR), matrix metalloproteinase 2 (MMP2), and insulin like growth factor 1 receptor (IGF1R) genes and Intervertebral disc degeneration (IVDD) in patients with IVDD, in Turkey
The patients with IVDD showed higher frequencies of the VDR ApaI A allele genotype as compared to the control group; there were no significant differences in the frequencies or allelic distributions of the IGF1R and MMP2 genotypes between the IVDD patients and the control group

Summary

Introduction

Lower back pain (LBP) negatively affects quality of life, increases the rate of sick leave, and is a leading cause of disability worldwide. One of the most common causes of LBP is intervertebral disc degeneration (IVDD) [1,2,3,4]. Intervertebral discs (IVDs), the soft tissues found between the vertebrae of the spine, are complex structures made up of the nucleus pulposus, annulus fibrosus, and cartilage endplates [5]. These IVD tissues interact with each other and provide mechanical support to the spine [2,6]. IVDD is characterized by the dysfunction and deterioration of the nucleus pulposus and annulus fibrosus and is diagnosed using magnetic resonance imaging (MRI). Disc degeneration is graded using T2-weighted MRI images. This five-level grading system of disc degeneration is measured by disc structure, distinction of the nucleus and the annulus, signal intensity, and the height of the intervertebral discs [7,8]

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