Molecular Genetics of Variability in Human Pain


Pain is considered to be an evolutionary‐conserved trait and is employed as a necessary means to survival. Although this trait is common in all humans, it shows great variability among individuals. The underlying mechanisms of pain perception are not fully understood. Functional single nucleotide polymorphism and other types of genetic polymorphisms increase or decrease gene function influencing the encoded product. These polymorphisms (alleles) used to analyse the genetic mechanisms of pain perception may account for up to 50% of the total variability in the human pain phenotype. Interestingly, certain genes (e.g. COMT and OPRM1) are reoccurring targets of interest for the variation they cause in experimental and clinical pain perception as well for their effects on analgesia and pain‐related psychosocial traits. Current and future genetic studies of human pain will reveal missing risk factors for painful disorders and will aid focussed clinical trials for improved and innovative pain management in patients at risk.

Key Concepts:

  • Variability is a common feature for all pain phenotypes in humans.

  • Genetics account for a big portion of overall variability in human pain.

  • Different pain phenotypes have overlapping genetic background.

  • Both common and rare functional genetic polymorphisms contribute to human pain.

  • Candidate gene studies revealed only of a handful of genetic risk and protective factors for human pain.

  • Unbiased genome‐wide approaches will provide data on additional genetic factors influencing human pain.

Keywords: functional; SNP; polymorphism; genetic; variability; pain; nociception; human; phenotype


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Belfer, Inna, Shnol, Helen, and Finelli, Peter(Apr 2013) Molecular Genetics of Variability in Human Pain. In: eLS. John Wiley & Sons Ltd, Chichester. [doi: 10.1002/9780470015902.a0024443]