Department of Twin Research and Genetic Epidemiology, King’s College London, UK.
Ann Rheum Dis. 2011 Jul;70(7):1203-7. doi: 10.1136/ard.2010.146001. Epub 2011 Mar 13.
Lumbar disc degeneration (LDD) is prevalent, age-related and contributes to low back pain. Cross-sectional LDD as determined by MRI scan is known to be highly heritable. The authors postulated that the rate of progression might also be controlled by genetic factors.
A 10-year follow-up of MRI-determined LDD was performed in 234 pairs of twin volunteers in the UK and Australia, comprising 90 monozygotic pairs and 144 dizygotic same-sex twin pairs. Of the total sample, 95% were female. The mean age at baseline was 53.3 years (range 32.3-69.5). The rate of progression was calculated and, because the effect of age was non-linear, the sample was divided into age strata and heritability estimated for each trait's progression.
All MRI-determined traits worsened significantly over the period of follow-up (p<0.0001 for each). Change in disc height was not heritable at any age while posterior disc bulge was heritable across all age categories (range 28-53%), with higher heritability in those over 60 years. Change in disc signal intensity and anterior osteophytes were found to be heritable only in those aged under 50 years at baseline (heritability estimates 76% (95% CI 44% to 100%) and 74% (42% to 100%), respectively).
Longitudinal change in LDD traits is heritable for all traits except disc height, but there is a significant influence of age, which varies across traits. Future studies to define the genetic variants influencing LDD progression should examine MRI traits individually and in women should focus on those under 50 years of age.
腰椎间盘退变(LDD)较为普遍,与年龄相关,可导致腰痛。通过 MRI 扫描确定的横断面 LDD 具有高度遗传性。作者推测,进展速度也可能受到遗传因素的控制。
对英国和澳大利亚的 234 对双胞胎志愿者进行了为期 10 年的 MRI 确定的 LDD 随访,其中包括 90 对单卵双胞胎和 144 对同性别双卵双胞胎。总样本中 95%为女性,基线时的平均年龄为 53.3 岁(范围 32.3-69.5)。计算了进展速度,由于年龄的影响是非线性的,因此将样本分为年龄组,并估计每个特征进展的遗传率。
所有 MRI 确定的特征在随访期间均显著恶化(p<0.0001)。在任何年龄段,椎间盘高度的变化都不具有遗传性,而后椎间盘膨出在所有年龄段都具有遗传性(范围 28-53%),60 岁以上者遗传性更高。仅在基线时年龄小于 50 岁的人群中,椎间盘信号强度变化和前骨赘被发现具有遗传性(遗传率估计值分别为 76%(95%CI 44%-100%)和 74%(42%-100%))。
除椎间盘高度外,所有 LDD 特征的纵向变化均具有遗传性,但年龄的影响显著,且在不同特征之间存在差异。未来研究应确定影响 LDD 进展的遗传变异,应单独检查 MRI 特征,对于女性,应重点关注年龄小于 50 岁的人群。