Disc degenerative disease in South Africa: A case-control analysis of selected gene variants

Background Disc degenerative disease is a multifactorial disease for which genetics plays an integral role. Several genes, and their variants, associated with the development and progression of disc degenerative disease have been identified. While several studies have investigated these genes in Asian and European populations, no available evidence exists for the South African population. Therefore, this study aimed to investigate these parameters. Methods and results Biological samples were collected in the form of buccal swabs from patients. DNA extraction was carried out according to established methods. All genotyping was performed using the MassARRAY®System IPLEX extension reaction. or associations between variants and the presence of disc degenerative disease, odds ratios, confidence intervals, chi-squared analysis and logistic regression was calculated. This study found statistically significant associations for five of the evaluated single nucleotide polymorphisms (SNPs) with disc degenerative disease, namely IL-1α rs1304037 and rs1800587, GDF-5 rs143383, ADAMTs-5 rs162509, and MMP-3 rs632478. Conclusion To the best of our knowledge, this study represents the first of its kind to investigate the association of gene variants associated with disc degenerative disease within the South African population. This study has shown that 5 of these gene variants were significantly associated with the presence of disc degenerative disease, reflecting their integral roles in development and possible progression of the disease.