Genomics of low back pain

Various factors are considered responsible for low back pain including occupational, psychosocial, structural factors, and genetic influences (Eskola et al., 2014). The main cause of disability across the world which also imposes a huge economic burden on society (Hoy et al., 2015). Currently, researchers are focusing on genetic influences and the role they play in low back pain. Various studies indicate that genetic variability plays a role in the development of low back pain. These studies show the relationship between intervertebral disc degeneration, genetic defects, and low back pain.

 Research shows that genetic variability may play a role in low back pain (Karppinen, 2017). One of these factors is the intervertebral disc degeneration (IDD). Various genetic defects have been linked with IDD in humans (Martisosyan et al., 2016). Therefore, genetic factors may cause IDD through biological and mechanical mechanisms. This can happen with or without the presence of other risk factors such as spine deformity, aging, and spine injury (Feng et al., 2016). For instance, genetic defects may cause functional and structural changes in some collagens within an IVD. This compromises the mechanical properties of the disc making it susceptible to external stress (Feng et al., 2016). According to Bjorland et al (2019), genetic variability has a role in pain perception, inflammation, and degenerative changes and may have a role in low back pain. For example, genetic variants in genes encoding proteins such as collagen may have an effect on the intervertebral discs’ degeneration.

The findings are similar to Kraatari’s (2018) study which shows that genetic factors play a role in low back pain. According to the author, lumbar disc degeneration (DD) contributes to low back pain. Studies show that genetic factors play a significant role in the development of lumbar DD (Määttä et al., 2015). Modic change, a phenotype of lumbar DD, is associated with low back pain. The average prevalence of modic change has been shown as 43% among individuals with low back pain compared to 6% in individuals without low back pain. These findings lead to the association of modic change with low back pain. Kraatari (2018) found that modic change was partly heritable. The study also found a genetic locus on chromosome 9 to be meaningfully associated with modic change using genome-wide meta-analysis. These findings indicated that genetic factors play a role in the development of modic change.

Research also shows that demographic factors such as sex, race, and ethnicity have an effect on genetic factors that play a role in low back pain (Katerina et al., 2016). For instance, sex was found to influence the heritability of chronic pain. In tests of the genetic contribution to pain, studies have reported heritability for lower back pain, supporting contributions of genetic (Jurik, 2016). Similar studies that focused on male twins reported heritability for back pain and heritability of chronic pain is shown to be mediated by common genetic factors. This suggests that when studying the genomics of low back pain, demographic factors should be considered. Low back pain is a common problem for human beings. Research shows that environmental factors contribute to the problem. However, research on the genomics of low back pain shows that it is inevitable that genetic factors play a role in low back pain (Perera, 2018). This means that genetics influence some cases of low back pain. Additionally, demographic factors cannot be ignored when studying the role of genetics in low back pain.


Bjorland, S., Gjerstad, J., Schistad, E., Swanson, D. & Roe, C. (2019). Persistent lumbar radicular and low back pain; impact of genetic variability versus emotional distress.   BMC Research Notes, 12, 547.

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Määttä, J. H., Wadge, S., MacGregor, A., Karppinen, J., & Williams, F. M. (2015). ISSLS             prize winner: Vertebral endplate (modic) change is an independent risk factor for            episodes of severe and disabling low back pain. Spine, 40(15), 1187-1193.

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Suri, P., Palmer, M., Tsepilov, Y., Freidin, M., Boer, C., Yau, M…..Karssen, L. & Williams, F.       (2018). Genome-wide meta-analysis of 158,000 individuals of European ancestry identifies three loci associated with chronic back pain, PLOS Genetics, 14(9).

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