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Commentary and Perspective   |    
Commentary on an article by Alpesh A. Patel, MD, et al.: “Evidence for an Inherited Predisposition to Lumbar Disc Disease”
David A. Wong, MD, MSc, FRCS(C)
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The author did not receive any outside funding or grants in support of his research for or preparation of this work. Neither he nor a member of his immediate family received payments or other benefits or a commitment or agreement to provide such benefits from a commercial entity.

Copyright © 2011 by The Journal of Bone and Joint Surgery, Inc.
J Bone Joint Surg Am, 2011 Feb 02;93(3):e10 1-1. doi: 10.2106/JBJS.J.01726
The main article is available here
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Readers should take particular note of the methodology and the conclusions from this article. In our lifetime, we have been fortunate to witness the extraordinary finale to the first crucial stage of the human genome project1—full human gene sequencing. With this enhanced knowledge of the DNA that connects us all, genetic analysis such as that seen in this article by Patel et al. will become increasingly important. We stand at the threshold of developing genetics-based evaluation and treatment for many ailments. However, the first requirement of genetic analysis is to determine which disease states have a likely genetic component and would thus be appropriate areas for more detailed research. The population-based methodology used by Patel et al. is particularly suited to this task. The methodology, involving tracking a database of >2.4 million people, is at the same time admirable but also astonishing. The statistical analysis inherent in this methodology may lead researchers to the specific genes responsible for diseases of the spine as it has already done for breast cancer. We are likely to see further research on any number of musculoskeletal conditions using this methodology.
The primary conclusion of this paper was that spine problems do have a genetic predisposition and thus would be an appropriate area of genetic study. This reinforces a long-held clinical impression and the findings of the twin studies by Battié et al.2 and Videman et al.3 (which Patel et al. believed were underpowered). A similar conclusion drawn from a different patient population and employing a different research methodology enhances the probability of the conclusion being valid.
We can look forward to more genetic research in the area of the spine. Inevitably better treatments are likely to be found. Perhaps the treatment for so-called black disc disease is lurking on the horizon.
U.S. Department of Energy Genome Program. Human Genome Project Information.  2010 Nov 4. http://www.ornl.gov/sci/techresources/Human_Genome/home.shtml. Accessed 2010 Nov 8.
 
Battié  MC;  Haynor  DR;  Fisher  LD;  Gill  K;  Gibbons  LE;  Videman  T. Similarities in degenerative findings on magnetic resonance images of the lumbar spines of identical twins. J Bone Joint Surg Am.  1995;77:1662-70.[PubMed]
 
Videman  T;  Battié  MC;  Ripatti  S;  Gill  K;  Manninen  H;  Kaprio  J. Determinants of the progression in lumbar degeneration: a 5-year follow-up study of adult male monozygotic twins. Spine.  2006;31:671-8.[PubMed] [CrossRef]
 

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References

U.S. Department of Energy Genome Program. Human Genome Project Information.  2010 Nov 4. http://www.ornl.gov/sci/techresources/Human_Genome/home.shtml. Accessed 2010 Nov 8.
 
Battié  MC;  Haynor  DR;  Fisher  LD;  Gill  K;  Gibbons  LE;  Videman  T. Similarities in degenerative findings on magnetic resonance images of the lumbar spines of identical twins. J Bone Joint Surg Am.  1995;77:1662-70.[PubMed]
 
Videman  T;  Battié  MC;  Ripatti  S;  Gill  K;  Manninen  H;  Kaprio  J. Determinants of the progression in lumbar degeneration: a 5-year follow-up study of adult male monozygotic twins. Spine.  2006;31:671-8.[PubMed] [CrossRef]
 
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