Department of Twin Research and Genetic Epidemiology, King's College London, UK.
Ann Rheum Dis. 2010 Dec;69(12):2102-6. doi: 10.1136/ard.2010.131441. Epub 2010 Jun 22.
Osteoarthritis (OA) and osteoporosis are often considered to lie at opposite ends of a spectrum of bone phenotypes. Lumbar degenerative disc disease (LDD) may be associated with low back pain (LBP) and is similar in many ways to OA. LDD is reported in small studies to be associated with increased spine bone mineral density (BMD). The present work aimed to confirm this association in a large population sample using MRI and explore the relationship further, in particular to determine whether it is mediated genetically.
A population based sample (N = 908, age range 32-74 years) of UK female twins having MRI of the lumbar spine was used in this study. LDD traits and summary measures and their relationship with BMD at the lumbar spine and hip were examined using multivariate multiple regression and maximum likelihood based variance decomposition.
There was a significant positive correlation between LDD and BMD at the lumbar spine and hip, which remained significant after adjustment for confounders. Both traits were highly heritable and the associations between them were mediated genetically.
A clear, significant and independent association of BMD at hip and lumbar spine with LDD was found which is, in part, genetically mediated. The association with the non-axial site, the hip, is of particular interest and suggests a systemic bone effect. This should encourage the search for pleiotropic genes to help in the understanding of the bone-cartilage relationship. Moreover, genetic variants identified could provide novel therapeutic targets in the management of LBP.
骨关节炎（OA）和骨质疏松症通常被认为处于骨表型谱的两端。腰椎退行性椎间盘疾病（LDD）可能与腰痛（LBP）相关，在许多方面与 OA 相似。有小研究报告称，LDD 与脊柱骨矿物质密度（BMD）增加有关。本研究旨在使用 MRI 在大人群样本中证实这种相关性，并进一步探讨这种相关性，特别是确定其是否与遗传有关。
本研究使用了英国女性双胞胎的基于人群的样本（N=908，年龄范围为 32-74 岁），对其进行了腰椎 MRI 检查。使用多元多回归和最大似然方差分解，研究了 LDD 特征和综合指标及其与腰椎和髋部 BMD 的关系。
LDD 与腰椎和髋部 BMD 呈显著正相关，调整混杂因素后仍具有统计学意义。这两个特征都具有高度遗传性，它们之间的关联是遗传介导的。
发现髋部和腰椎 BMD 与 LDD 之间存在明显、显著且独立的关联，部分是遗传介导的。与非轴向部位（髋部）的关联尤其有趣，提示存在系统性骨骼效应。这应该鼓励寻找多效性基因，以帮助理解骨骼-软骨关系。此外，确定的遗传变异可能为 LBP 的管理提供新的治疗靶点。
