Is there a genetic component associated with back pain?
Approximately 31 million Americans have experienced lower back pain (LBP) in their lifetime, and this type of pain is the third most common reason for a medical visit in the United States.
The origin of lower back pain may be attributed to a multitude of different factors including lack of movement, obesity, poor posture, tense muscles due to strain from strenuous exercises (i.e. weightlifting), psychological stress, and physical trauma from accidents or falls.
Many of these causes can be modified with a healthier diet and improved posture when sitting and lifting. In addition, physical therapy also has been proven to be beneficial.
However, an immutable factor that may influence an individual’s predisposition to developing back pain is genetics.
The relationship between one’s genetics and their likelihood of developing back pain has not been widely studied until recently when new findings came to light that identified potential genes associated with chronic back pain (CBP). This has certainly opened up the horizon to dire implications associated with LBP.
In a study conducted by Suri et al. (2018), a sample of 158,025 individuals of European ancestry was evaluated for CBP; which was then defined in terms of having back pain for ≥ 3-6 months.
After participants underwent genetic testing, an association was found between CBP and a variant on chromosome 12 of the SOX5 gene known as rs12310519. This variant was strongly associated with intervertebral disc degeneration, which was detected via imaging. The SOX5 gene is known to encode for a transcription factor involved in the process by which cartilage is developed as well as the development of the nervous system.
In previous studies, inactivation of the SOX5 gene led to defects in cartilage and skeletal formation in mice. Based on these findings, it may be reasonable to infer that the variant discovered in the SOX5 gene contributes to CBP due to its implications of disrupting connective tissue and skeletal development when inactivated.
Other variants have been implicated in the development of back pain, including rs7814941 found on the intergenic site of CCDC26 and GSDMC. This variant has been associated with intervertebral disc herniation requiring surgery for individuals diagnosed with sciatica.
Since herniated discs are often followed by the onset of back pain, it may be reasonable to speculate an association between this genetic variant and the development of CBP. Another gene found to potentially be associated with back pain is PNOC. Starkweather et al. (2016) found that when PNOC was upregulated, it contributed to mechanical sensitivity of the painful region in participants suffering from acute LBP; suggesting a possible genetic link between the PNOC gene and the manifestation of back pain.
Based on these studies, it is reasonable to infer that there is a genetic basis underlying the embodiment of back pain. Even though individuals affected by these genetic mutations may not be able to alter their own genomes, there are still various options available for them to manage their dire condition.
Non-pharmacological methods such as back exercises, heat therapy, acupuncture, etc., are all viable options for an individual afflicted with LBP to alleviate their pain. A change in one’s lifestyle and daily habits to live a healthy and functional life is of utmost importance when considering the long term management of chronic back pain.
- American Chiropractic Association. (2021). Back Pain Facts and Statistics. acatoday.org. https://www.acatoday.org/Patients/What-is-Chiropractic/Back-Pain-Facts-and-Statistics.
- org [Internet]. Cologne, Germany: Institute for Quality and Efficiency in Health Care (IQWiG); 2006-. Low back pain: Overview. 2012 Feb 9 [Updated 2019 Feb 14]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK284941/
- Suri, Pradeep et al. “Genome-wide meta-analysis of 158,000 individuals of European ancestry identifies three loci associated with chronic back pain.” PLoS genetics 14,9 e1007601. 27 Sep. 2018, doi:10.1371/journal.pgen.1007601
- Lamb, Allen N et al. “Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features.” Human mutation 33,4 (2012): 728-40. doi:10.1002/humu.22037
- Smits, P et al. “The transcription factors L-Sox5 and Sox6 are essential for cartilage formation.” Developmental cell 1,2 (2001): 277-90. doi:10.1016/s1534-5807(01)00003-x
- Bjornsdottir, Gyda et al. “Sequence variant at 8q24.21 associates with sciatica caused by lumbar disc herniation.” Nature communications 8 14265. 22 Feb. 2017, doi:10.1038/ncomms14265
- Starkweather, Angela R et al. “Acute LBP: Differential Somatosensory Function and Gene Expression Compared With Healthy No-Pain Controls.” The Clinical journal of pain 32,11 (2016): 933-939. doi:10.1097/AJP.0000000000000347
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