Evidence for an Inherited Predisposition to Lumbar Disc Disease

Patel, Alpesh A.; Spiker, William Ryan; Daubs, Michael; Brodke, Darrel; Cannon-Albright, Lisa A.
February 2011
Journal of Bone & Joint Surgery, American Volume;2/2/2011, Vol. 93-A Issue 3, p225
Academic Journal
Background: A genetic predisposition for the development of symptomatic lumbar disc disease has been suggested by several twin sibling studies and subsequent genetic marker studies. The purpose of the present study was to define population-based familial clustering among individuals with a diagnosis of, or treated for, lumbar disc herniation or disc degeneration. Methods: The Utah Population Database allows analysis of combined health and genealogic data for over one million Utah residents. We used the International Classification of Diseases, Ninth Revision, diagnosis codes entered in patient records to identify patients with a diagnosis of either lumbar disc herniation or lumbar disc degeneration and genealogic data. The hypothesis of excess relatedness (familial clustering) was tested with use of the Genealogical Index of Familiality, which compares the average relatedness of affected individuals with expected population relatedness. Relative risks in relatives were estimated by comparing rates of disease in relatives with expected population rates (estimated from the relatives of matched controls). This methodology has been previously reported for other disease conditions but not for spinal diseases. Results: The Genealogical Index of Familiality test for 1264 patients with lumbar disc disease showed a significant excess relatedness (p < 0.001). Relative risk in relatives was significantly elevated in both first-degree (relative risk, 4.15; p < 0.001) and third-degree relatives (relative risk, 1.46; p = 0.027). Conclusions: Excess relatedness of affected individuals and elevated risks to both near and distant relatives was observed, strongly supporting a heritable contribution to the development of symptomatic lumbar disc disease.


Related Articles

  • Genetic Risk Factors for Lumbar Disk Disease. Marini, Joan C. // JAMA: Journal of the American Medical Association;4/11/2001, Vol. 285 Issue 14, p1886 

    Editorial. Discusses research on the role of collagen and mutations in the genes coding for collagen in common musculoskeletal disorders. Study by Paassilta and colleagues in the same issue; Disease-causing mutations in types II and XI collagen in chondrodystrophies; The need for further...

  • Identification of a Novel Common Genetic Risk Factor for Lumbar Disk Disease. Paassilta, Petteri; Lohiniva, Jaana; Goring, Harald H. H.; Perala, Merja; Raina, S. Susanna; Karppinen, Jaro; Hakala, Markku; Palm, Tiina; Kroger, Heikki; Kaitila, Ilkka; Vanharanta, Heikki; Ott, Jurg; Ala-Kokko, Leena // JAMA: Journal of the American Medical Association;4/11/2001, Vol. 285 Issue 14, p1843 

    Presents a study to determine if collagen IX gene sequence variations play a role in the pathogenesis of lumbar disk disease (LDD). Design and setting; Participants; Main outcome measures; Results; Conclusion that genetic risk factors likely play a significant role in LDD.

  • Commentary on an article by Alpesh A. Patel, MD, et al.: "Evidence for an Inherited Predisposition to Lumbar Disc Disease" Wong, David A. // Journal of Bone & Joint Surgery, American Volume;2/2/2011, Vol. 93-A Issue 3, pe10-1 

    A discussion is presented of the article ‘‘Evidence for an Inherited Predisposition to Lumbar Disc Disease," by Alpesh A. Patel and team. It is noted that the use of population genetic analysis to determine potential hereditary components to individual spinal diseases has potential...

  • The Association of Lumbar Disc Disease with Vitamin-D Receptor Gene Polymorphism. Kawaguchi, Yoshiharu; Kanamori, Masahiko; Ishihara, Hirokazu; Ohmori, Kazuo; Matsui, Hisao; Kimura, Tomoatsu // Journal of Bone & Joint Surgery, American Volume;Nov2002, Vol. 84-A Issue 11, p2022 

    Background: Although the etiology of lumbar disc disease is unknown, it has been suggested that a genetic factor contributes to its development. Recently, some genetic polymorphisms have been found to be related to clinical disorders. We investigated the association between vitamin-D receptor...

  • All in the Family: Lower Back Disease May Be in Your Genes.  // EHS Today;Mar2011, Vol. 4 Issue 3, p17 

    The article focuses on a research study on hereditary factors involved in a symptomatic lumbar disc disease affecting a vast number of Americans in the U.S. It notes that the study reveals that this type of pathological condition characterized by degeneration of lumbar spine discs may be...

  • Association between the -1306C/T polymorphism of matrix metalloproteinase-2 gene and lumbar disc disease in Chinese young adults. Dong, D. M.; Yao, M.; Liu, B.; Sun, C. Y.; Jiang, Y. Q.; Wang, Y. S. // European Spine Journal;Nov2007, Vol. 16 Issue 11, p1958 

    Matrix metalloproteinase-2 (MMP-2) has been shown to play a pivotal role in the pathophysiology of lumbar disc disease (LDD). Increased expression and activity of MMP-2 has been documented in degenerative discs. The polymorphism -1306C/T in the promoter region of MMP-2 gene was reported to...

  • To see your future look into your past. Finch, Steven // Health (Time Inc. Health);Oct96, Vol. 10 Issue 6, p92 

    Recommends that everyone trace their family health history in order to know if one is susceptible to a particular disease. Benefit of doing preventive measures early on in life; Diseases which are often genetically predisposed; Advice on tracing family health history.

  • Chordoma Of Lumbar Spine. Nirmala, M. J.; Parshwanath, H. A.; Patil, A. M. // Al Ameen Journal of Medical Sciences;2010, Vol. 3 Issue 4, p350 

    Chordoma, lesion derived from the notochord, represents about 4% of the primary malignant bone tumours. Males are affected more commonly than females and it is very rare in children;the peak incidence is in the sixth decade of life. The sacrococcygeal region accounts for 50% of cases and the...

  • Klebsiella pneumoniae Spinal Epidural Abscess treated conservatively: case report and review. Araújo, Filipe; Ribeiro, Célia; Silva, Inês; Nero, Patrícia; Branco, Jaime C. // Acta Reumatológica Portuguesa;jul-set2012, Vol. 37 Issue 3, p260 

    Spinal infections are rare but potentially life-threatening disorders. A high level of clinical suspicion is necessary for rapid diagnosis and treatment initiation. The treatment combines both antibiotics and surgical intervention in the vast majority of cases. The authors report the case of a...


Read the Article


Sorry, but this item is not currently available from your library.

Try another library?
Sign out of this library

Other Topics