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Licensed Unlicensed Requires Authentication Published by De Gruyter May 21, 2015

Genetic aspects of intervertebral disc degeneration

Sara Hanaei, Sina Abdollahzade, Alireza Khoshnevisan, Christopher K. Kepler and Nima Rezaei


Intervertebral disc degeneration (IVDD) is one of the common causes of low back pain. Similar to many other multifactorial diseases, it is affected by environmental and genetic factors. Although not completely understood, genetic factors include a wide spectrum of variations, such as single nucleotide polymorphisms, which could play a significant role in the etiology of this disease. Besides, the interactions with environmental factors could make the role of genetic factors more complicated. Genetic variations in disc components could participate in developing degenerative disc disease through altering the normal homeostasis of discs. Gene polymorphisms in disc proteins (collagens I, II, III, IX, and XI), proteoglycans (aggrecan), cytokines (interleukins I, VI, and X), enzymes (matrix metalloproteinases II, III, and IX), and vitamin D receptor seem to play considerable roles in the pathology of this disease. There are also many other investigated genes that could somehow take part in the process. However, it seems that more studies are needed to clarify the exact role of genetics in IVDD.

Corresponding author: Nima Rezaei, Research Center for Immunodeficiencies, Children’s Medical Center, Tehran University of Medical Sciences, Dr. Qarib Street, Keshavarz Boulevard, Tehran 14194, Iran, e-mail: ; Molecular Immunology Research Center, and Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran 14194, Iran; and Universal Scientific Education and Research Network (USERN), Tehran 1494, Iran


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Received: 2014-11-12
Accepted: 2015-4-1
Published Online: 2015-5-21
Published in Print: 2015-10-1

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