• Open Access

Current evidence for a modulation of low back pain by human genetic variants

Authors

  • Irmgard Tegeder,

    Corresponding author
    1. pharmazentrum Frankfurt/ZAFES, Klinikum der Goethe-Universität Frankfurt am Main, Theodor-Stern-Kai, Frankfurt am Main, Germany
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  • Jörn Lötsch

    1. pharmazentrum Frankfurt/ZAFES, Klinikum der Goethe-Universität Frankfurt am Main, Theodor-Stern-Kai, Frankfurt am Main, Germany
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Correspondence to: Irmgard TEGEDER, M.D., Pharmazentrum Frankfurt/ZAFES, Institut für Klinische Pharmakologie, Universitütsklinikum Frankfurt am Main, Theodor-Stern-Kai 7, D-60590 Frankfurt am Main, Germany.
Tel.: +49-69-6301-7621; Fax: +49-69-6301-7636
E-mail: Tegeder@em.uni-frankfurt.de

Abstract

  • • Introduction
  • • Genetic polymorphisms associated with intervertebral disc disease (IDD)
  • • Polymorphisms in pro-inflammatory genes
  • • Polymorphisms associated with subtle modulations of pain sensitivity
  • • Polymorphisms contributing to chronic widespread musculoskeletal pain
  • • Polymorphisms causing complex syndromes with a loss of pain perception
  • • Polymorphisms modulating the metabolism of analgesics
  • • Summary

The manifestation of chronic back pain depends on structural, psychosocial, occupational and genetic influences. Heritability estimates for back pain range from 30% to 45%. Genetic influences are caused by genes affecting intervertebral disc degeneration or the immune response and genes involved in pain perception, signalling and psychological processing. This inter-individual variability which is partly due to genetic differences would require an individualized pain management to prevent the transition from acute to chronic back pain or improve the outcome. The genetic profile may help to define patients at high risk for chronic pain. We summarize genetic factors that (i) impact on intervertebral disc stability, namely Collagen IX, COL9A3, COL11A1, COL11A2, COL1A1, aggrecan (AGAN), cartilage intermediate layer protein, vitamin D receptor, metalloproteinsase-3 (MMP3), MMP9, and thrombospondin-2, (ii) modify inflammation, namely interleukin-1 (IL-1) locus genes and IL-6 and (iii) and pain signalling namely guanine triphosphate (GTP) cyclohydrolase 1, catechol-O-methyltransferase, μ opioid receptor (OPMR1), melanocortin 1 receptor (MC1R), transient receptor potential channel A1 and fatty acid amide hydrolase and analgesic drug metabolism (cytochrome P450 [CYP]2D6, CYP2C9).

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