Precision Medicine Unit, Department of Biotechnology, University of the Western Cape, Cape Town, South Africa.
Health Collective, Panorama Healthcare Building, Cape Town, South Africa.
Mol Biol Rep. 2024 Sep 17;51(1):992. doi: 10.1007/s11033-024-09930-7.
Intervertebral disc (IVD) 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 IVD 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.
Biological samples were collected in the form of buccal swabs from patients and DNA was extracted using a standard salt-lysis protocol. DNA purity and quantity was assessed by spectrophotometry, and subsequent genotyping was performed using the MassARRAYSystem IPLEX extension reaction. For associations between variants and the presence of IVD degenerative disease, odds ratios (OR), confidence intervals (CI), chi-squared analysis and logistic regression was calculated. Age and sex were adjusted for, and Bonferroni's correction was applied. This study found statistically significant associations for five of the evaluated single nucleotide polymorphisms (SNPs) with IVD degenerative disease, whereby IL-1α rs1304037 and rs1800587, ADAMTs-5 rs162509, and MMP-3 rs632478 demonstrated increased odds of a positive diagnosis for IVD degenerative disease, while decreased odds of IVD degenerative disease were seen for GDF-5 rs143383.
To the best of our knowledge, this study represents the first of its kind to investigate the association of gene variants associated with IVD degenerative disease within the South African population. This study has shown that 5 of these gene variants were significantly associated with the presence of IVD degenerative disease, reflecting their integral roles in development and possible progression of the disease.
椎间盘（IVD）退行性疾病是一种多因素疾病，其中遗传起着重要作用。已经确定了一些与 IVD 退行性疾病的发展和进展相关的基因及其变体。虽然几项研究已经在亚洲和欧洲人群中研究了这些基因，但南非人群尚无可用证据。因此，本研究旨在调查这些参数。
以口腔拭子的形式从患者中收集生物样本，并使用标准盐析法提取 DNA。通过分光光度法评估 DNA 的纯度和数量，随后使用 MassARRAYSystem IPLEX 扩展反应进行基因分型。为了研究变体与 IVD 退行性疾病之间的关联，计算了比值比（OR）、置信区间（CI）、卡方分析和逻辑回归。调整了年龄和性别，并应用了 Bonferroni 校正。本研究发现，在所评估的五个单核苷酸多态性（SNP）中，有五个与 IVD 退行性疾病存在统计学显著关联，其中 IL-1α rs1304037 和 rs1800587、ADAMTs-5 rs162509 和 MMP-3 rs632478 显示出 IVD 退行性疾病阳性诊断的几率增加，而 GDF-5 rs143383 则显示出 IVD 退行性疾病的几率降低。
据我们所知，这项研究是第一个在南非人群中研究与 IVD 退行性疾病相关的基因变体关联的研究。本研究表明，其中 5 个基因变体与 IVD 退行性疾病的存在显着相关，反映了它们在疾病的发展和可能进展中不可或缺的作用。
