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Lumbar degenerative disc disease: all in the genes?

Lumbar degenerative disc disease is a common ailment that causes patients significant pain, disability and psychologic distress, in addition to its large socioeconomic impact on society. The etiology of disc degeneration has been extensively studied, but our understanding remains incomplete. Increased age and male gender are risk factors for radiographic and histologic changes associated with disc degeneration. Smoking and mechanical stress have also been evaluated as causative agents, but their impact on disease development has proven to be very small. The largest influence on degeneration has been shown to come from an inherited element. Twin studies, case–control studies and large population-based studies have confirmed that a familial predisposition exists. However, the underlying genetic cause of this heritable risk remains unknown. Variations in collagens and other extracellular matrix components likely play a role, but we remain in the infancy of our understanding of this complex genetic process.