Degenerative changes in the disc have long been of interest; they are thought to be strongly associated with low back pain and caused by inappropriate loading or through injury. However, independent of the magnitude of occupational spinal loading, twin studies find that the heritability of lumbar disc degeneration is 34-74%. This finding has led to intensive searches for susceptibility genes; some genes associated with disc degeneration have been identified, though all with small effects on the degenerative process. The complex nature of degenerative changes suggests that many different genes are involved, and that interactions with environmental factors are influential in progression of degeneration. Low back pain itself also appears heritable (30-46%). The most important clinical question though, is not how discs degenerate but is disc degeneration related to low back pain. Imaging studies find many people with degenerate discs or even with discs showing pathological features such as herniations, are asymptomatic. However results are obscured by the lack of consistent definitions of the phenotypes of disc degeneration and of low back pain. Epidemiological studies could help disentangle these complex relationships, but they will only be successful once consistent classifications and phenotypes of both disc degeneration and low back pain are developed.

译文

:光盘的退化性变化长期以来引起人们的关注;它们被认为与下背痛密切相关,是由于不适当的负荷或受伤引起的。但是,与职业性脊柱负荷的大小无关,双胞胎研究发现腰椎间盘退变的遗传力为34-74%。这一发现导致了对易感基因的深入研究。已经鉴定了一些与椎间盘退变相关的基因,尽管所有这些基因对退变过程的影响都很小。退化性变化的复杂性表明,涉及许多不同的基因,并且与环境因素的相互作用对退化的发展有影响。腰痛本身也似乎是遗传性的(30-46%)。然而,最重要的临床问题不是椎间盘如何退化,而是与腰痛相关的椎间盘退变。影像学研究发现许多人椎间盘退变,甚至椎间盘突出等病理特征也无症状。但是,由于缺乏对椎间盘退变和腰痛表型的一致定义,结果被模糊不清。流行病学研究可以帮助弄清这些复杂的关系,但只有在开发出了椎间盘退变和下腰痛的一致分类和表型后,它们才能成功。

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