Association of the Polymorphisms of Vitamin D Receptor and Aggrecan Genes with Degenerative Disc Disease

Abstract

The aim of this study was to investigate the association between the polymorphisms of the vitamin D receptor (VDR) and aggrecan genes and degenerative disc disease in young Turkish patients. Aggrecan and VDR proteins are the main components of bone and cartilage. In our study, the polymorphisms of the VDR and aggrecan genes were investigated in a total of 300 individuals regarding disc degeneration and herniation. An association was found in the patients having VDR gene TT, Tt, FF, and Ff genotypes with the protrusion type of disc herniation, whereas the patients having tt and ff genotypes were associated with extrusion/sequestration types of the disease. Also, an association was observed between TT and FF genotypes of the VDR gene and mild forms of disc degeneration; and tt, ff, and Ff genotypes and severe forms of the disease. There was also an association between shorter, normal, and longer alleles of the aggrecan gene and a protrusion type of disc herniation. An association was found between short alleles and multilevel and severe disc degeneration, as well as normal and long alleles and mild disc degeneration. This study revealed that the polymorphisms of the VDR and aggrecan genes are associated with disc degeneration and herniation.

CASE-REPORT Association between an ACAN gene variable number tandem repeat polymorphism and lumbar disc herniation: a case control study

“…The most prevalent allele, both among participants with LDH and in the control group, was allele A28, followed by alleles A27 and A29 (28, 27, and 29 repeats). However, the frequency of allele A28 in the researched population was greater when compared with Korean (Kim et al, 2011), Chinese (Cong et al, 2010;Cong et al, 2014), Turkish, (Eser et al, 2010), and Iranian (Mashayekhi et al, 2010) populations. One factor that influences genetic variability is the ethnic difference among these populations.…”

“…A 50-µL solution was used, containing 10 pmol sense and antisense sequence, 5 µL genomic DNA, 27.5 mM dNTP (deoxynucleotide triphosphates), 0.3 µL Taq DNA polymerase, 25 mM MgCl 2 , and 10X PCR buffer and water. Amplification was conducted over 38 cycles, with denaturation at 95°C for 5 min, followed by annealing at 66°C for 50 s and extension at 72°C for 50 s. The PCR products were separated on 1.5% agarose gel and visualized using a photodetector (BioRad, USA) after staining with ethidium bromide gel (Eser et al, 2010(Eser et al, , 2011. Alleles were measured using a standard molecular weight of 100 bp.…”

“…However, the etiology of degenerative disc disease (DDD) is complex. Although environmental, ergonomic, and anthropometric factors have traditionally been determined as causes, several studies have suggested that genetic factors or familial predisposition contribute to the degeneration and consequent herniation of intervertebral discs (Battié et al, 2004;Brioni Nunes et al, 2007;Zhang et al, 2008;Eser et al, 2010;Paz Aparicio et al, 2011).…”

“…Zhang et al (2008), Eser et al (2010), and Mayer et al (2013) indicate several genes that have been associated with DDD, including the human aggrecan gene (ACAN). Cong et al (2010) reported that this gene is responsible for encoding aggrecan, the largest proteoglycan in the hyaline cartilage and fibrocartilaginous disc, which is responsible for creating an osmotic pressure gradient and preserving the water content of intervertebral discs, contributing to hydration.…”

Intervertebral Disc Degeneration and Low Back Pain: Molecular Mechanisms and Stem Cell Therapy

“…(189) Moreover, the recombinant human GDF-5 (rhGDF-5) enhances cell proliferation and matrix synthesis and accumulation by both bovine NP and AF cells. (190) Some epidemiologic studies highlighted that DD may be caused to a large degree by hereditary factors with apparently a relatively minor effects of environmental and behavioral risk factors (191)(192)(193)(194)(195), which indicated that genetic factors might play an important role in the pathogenesis of IDD.…”