Navigating the Genetic Labyrinth: Uncovering the Complex Connection Between Genetics and Chronic Back Pain

Chronic back pain (CBP) continues to be a leading cause of disability worldwide. The complexities of its origins and the intricacies of its management make it a focus of ongoing research. In a breakthrough study published in the Journal of Personalised Medicine, a team of researchers developed and validated a Genome-Wide Polygenic Risk Score (PRS) to estimate the genetic risk of CBP. Despite the complexities involved, this study offers valuable insights that may bring us a step closer to personalised medicine in managing CBP.

Development of the Genome-Wide Polygenic Risk Score (PRS)

The research team leveraged data from the UK Biobank participants of European ancestry (N = 265,000) to create a genome-wide PRS for CBP. The PRS aimed to provide a single measure of genetic risk by combining information from multiple genetic variants across the genome.

Limited Predictive Ability: The Complexity of Chronic Back Pain

The PRS showed poor overall predictive ability (AUC = 0.56 and OR = 1.24 per SD, 95% CI: 1.22–1.26). However, individuals from the 99th percentile of PRS distribution had a nearly two-fold increased risk of CBP (OR = 1.82, 95% CI: 1.60–2.06). The study revealed that CBP’s genetic architecture is complex, heterogeneous, and polygenic, meaning that many genes each contribute a small amount to the disease risk.

The Role of Clinical Coding

The researchers found that the PRS was significantly associated with various ICD-10 diagnostic codes, including chronic ischemic heart disease, obesity, metabolism-related traits, spine disorders, disc degeneration, and arthritis-related disorders.

Clinical coding played a crucial role in this process. It allowed the researchers to accurately identify the presence of specific conditions in the participants’ data. This emphasises the importance of accurate clinical coding in research, as it enables the identification of disease patterns and helps to uncover connections between different health conditions.

The Interplay Between Genetics and Environment

The research team also conducted a PRS and environment interaction analysis with twelve known CBP risk factors but found no significant results. This suggests that the magnitude of gene-environment interactions with studied factors is small, indicating that other factors may be at play in the development of CBP.

A Step Towards Personalised Medicine

Despite the limited predictive ability of the PRS, this research represents an important step towards understanding the genetics of CBP and opens the door to future research. In the context of personalised medicine, understanding the genetic predisposition to conditions such as CBP can inform preventative strategies and treatment plans.

Conclusion: A Complex Puzzle

The genetic puzzle of chronic back pain is complex, with many pieces yet to be discovered. However, the development and validation of a genome-wide PRS for CBP bring us a step closer to understanding this complex trait. Importantly, this study also highlights the crucial role of clinical coding in genomic research, providing a strong foundation for further exploration in this fascinating field of personalised medicine.


Tsepilov, Y. A., Elgaeva, E. E., Nostaeva, A. V., Compte, R., Kuznetsov, I. A., Karssen, L. C., Freidin, M. B., Suri, P., Williams, F. M. K., & Aulchenko, Y. S. (2023). Development and Replication of a Genome-Wide Polygenic Risk Score for Chronic Back Pain. J. Pers. Med., 13(6), 977.

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