Lumbar Disc Degeneration: Epidemiology and Genetics

Abstract

Research conducted over the past decade has led to a dramatic shift in the understanding of disc degeneration and its etiology. Previously, heavy physical loading—often associated with occupation—was the main suspected risk factor for disc degeneration, which was commonly viewed as a wear-and-tear phenomenon exacerbated by the precarious nutritional status of the disc. However, results of studies on twins suggest that physical loading specific to occupation and sport plays a relatively minor role in disc degeneration. Recent research indicates that heredity has a dominant role in disc degeneration, which would explain the variance of up to 74% seen in adult populations that have been studied to date. Since 1998, genetic influences have been confirmed by the identification of several gene forms associated with disc degeneration. This research is paving the way for a better understanding of the biologic mechanisms through which disc degeneration occurs, including specific interactions between genes and environment. Research into disc degeneration and genetics has become more limited by phenotypes or definitions and measures of disc degeneration than by DNA analysis. Standardized, universally accepted definitions of disc degeneration are lacking, in part due to limited knowledge of the process. The measurements that are selected depend on the method used to evaluate the disc and are often qualitative ordinal rating scales, lacking in precision. Although it is generally agreed that disc degeneration is common, the prevalence of specific findings is unclear. A review of the epidemiology of disc degeneration reveals wide-ranging prevalence estimates for various signs of disc degeneration in samples of the general population and in patients with back symptoms. The extreme variations in prevalence rates are likely largely due to inconsistencies in the definitions and measurements of disc degeneration. Such inconsistencies and inaccuracies impede epidemiologic research on disc degeneration.