J Bone Joint Surg Am. 2011;93:225-229. Abstract
In an analysis of a database of more than 2 million people, first-degree and third-degree relatives of people with lumbar disc disease had a significantly increased relative risk of developing the back condition themselves compared with expected rates for the general population. "The results of this study support a heritable predisposition to lumbar disc disease," lead author Alpesh A. Patel, MD, and colleagues from the departments of Orthopaedics and Biomedical Informatics, University of Utah School of Medicine, Salt Lake City, report in the February 2 issue of the Journal of Bone and Joint Surgery.
To test the hypothesis that lumbar disc disease may be inherited, the authors analyzed data from both the Utah Population Database, which permits the tracking of medical information on the founding pioneers of Utah and their descendents, and the University of Utah Health Sciences Center data warehouse, which has diagnosis and procedure data on all patients treated at the University Hospital. Together, the databases contain information on more than 2.4 million patients. Only patients and control participants with at least 3 generations of genealogical data were included in the study.
Of those individuals, 1254 people had at least 1 diagnosis of lumbar disc disease or lumbar disc herniation, along with the requisite genealogical data. The authors tested for heritability in 2 ways: by estimating the relative risk for lumbar disease in relatives and by determining a genealogical index of familiality (GIF). They compared their findings in affected families with the expected results for the general population of Utah.
First-degree relatives of people with lumbar disc disease had a relative risk of 4.15 of having the disease themselves (95% confidence interval [CI], 2.82 - 6.10; P < .001). In third-degree relatives, the relative risk was 1.46 (95% CI, 1.06 - 2.01; P = .027). Relative risk was slightly elevated in second-degree relatives, at 1.15, but this was not significant (95% CI, .71 - 1.87; P = .60), perhaps because of limitations in the data.
This study suggests that first-degree relatives and third degree relatives have a statistically significant of developing lumbar disc disease and that there may be a genetic component related to disc disease.
Future research can potentially identify the genes leading lumbar disc disease which often accompanies lumbar disc herniations and spinal arthritis.
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