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Published on: August 30, 2022
The genetics of pain: implications for evaluation and treatment of spinal disease
David H Kim1, Carolyn E Schwartz
1Department of Orthopaedic Surgery, Tufts University Medical School, New England Baptist Hospital, Boston, MA 02120, USA. dhkim@caregroup.harvard.edu
Background Context:
Variability in human pain experience appears to be at least partially determined by genetic inheritance. To the extent that awareness of individual pain sensitivity and the tendency to develop chronic pain after injury or surgery would be informative for clinical decision making, development and use of genetic testing for specific pain markers could contribute to improved outcomes in management of spinal disease.
Purpose:
To review important and illustrative results from both classical and modern pain genetics studies and to introduce readers to critical definitions and concepts necessary to interpret the growing body of genetics literature relevant to spinal disease.
Study Design/Setting:
Literature review and commentary.
Methods:
A review was performed of published English language studies in which genetic techniques were used to analyze the molecular basis of nociceptive signaling or processing with a particular emphasis on studies addressing genetic determinants of interindividual variability in pain sensitivity or predisposition to chronic pain.
Results:
There is compelling evidence indicating that interindividual differences in pain sensitivity and the risk of developing chronic pain syndromes are genetically determined. Despite a growing list of putative "pain genes," genetic association studies remain plagued with difficulty replicating initial findings in different cohorts.
Conclusions:
Genome-wide association studies are potentially powerful means of identifying clinically relevant genetic markers predicting disease susceptibility, severity, and treatment response. However, accurate results require rigorous study design with use of large homogeneous populations and precise phenotypes.
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