Cited by 241Musculoskeletal pain and rehabilitationFibromyalgia and Chronic Fatigue Syndrome ResearchPain Mechanisms and Treatments

The phenotypic and genetic signatures of common musculoskeletal pain conditions

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Diatchenko, Luda, Fillingim, Roger B., Smith, Shad B., Maixner, William·2013·Nature Reviews Rheumatology

Abstract

Musculoskeletal pain conditions, such as fibromyalgia and low back pain, tend to coexist in affected individuals and are characterized by a report of pain greater than expected based on the results of a standard physical evaluation. The pathophysiology of these conditions is largely unknown, we lack biological markers for accurate diagnosis, and conventional therapeutics have limited effectiveness. Growing evidence suggests that chronic pain conditions are associated with both physical and psychological triggers, which initiate pain amplification and psychological distress; thus, susceptibility is dictated by complex interactions between genetic and environmental factors. Herein, we review phenotypic and genetic markers of common musculoskeletal pain conditions, selected based on their association with musculoskeletal pain in previous research. The phenotypic markers of greatest interest include measures of pain amplification and 'psychological' measures (such as emotional distress, somatic awareness, psychosocial stress and catastrophizing). Genetic polymorphisms reproducibly linked with musculoskeletal pain are found in genes contributing to serotonergic and adrenergic pathways. Elucidation of the biological mechanisms by which these markers contribute to the perception of pain in these patients will enable the development of novel effective drugs and methodologies that permit better diagnoses and approaches to personalized medicine.

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  1. [1]Committee on Advancing Pain Research, Care and Education, Institute of Medicine Relieving Pain in America: A Blueprint for Transforming Prevention, Care, Education, and Research 2011 1st edn The National Academies Press 22553896
  2. [112]Slade GD Study methods, recruitment, sociodemographic findings, and demographic representativeness in the OPPERA study J. Pain 2011 12 Suppl. T12 T26 22074749 PMC3666856
  3. [122]Diatchenko L Three major haplotypes of the β2 adrenergic receptor define psychological profile, blood pressure, and the risk for development of a common musculoskeletal pain disorder Am. J. Med. Genet. Part B 2006 141B 449 462 16741943 PMC2570772

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Authors
Diatchenko, L., Fillingim, R. B., Smith, S. B., & Maixner, W.
Affiliations
  • University of North Carolina at Chapel Hill (US)
  • University of Florida Health (US)
Corresponding author
Diatchenko, Luda
Venue
Nature Reviews Rheumatology
Published
2013-04-02
Volume
9
Issue
6
Pages
340-350
ISSN
  • 1759-4790 (ISSN-L)
  • 1759-4804
OpenAlex
W2002876517
Cited by
241
References
132
Citations by year
2026: 10 · 2025: 13 · 2024: 18 · 2023: 20 · 2022: 20 · 2021: 32 · 2020: 19 · 2019: 15 · 2018: 20 · 2017: 16 · 2016: 20 · 2015: 25 · 2014: 10 · 2013: 3
FWCI
2.44
Type
journal article
Language
en
Open access
Locations
  • Nature Reviews Rheumatology (publishedVersion)
  • PubMed (publishedVersion)
  • Europe PMC (PubMed Central) (acceptedVersion)
  • PubMed Central (acceptedVersion)
Funders
  • National Institutes of Health (5r01ag033906-10)
  • U.S. Public Health Service (1K12DSE022793)
  • National Institute on Aging (R-01-AG-033906, AG033906, R37AG033906, P30AG028740)
  • National Institute of Neurological Disorders and Stroke (P01NS045685)
  • National Institute of Dental and Craniofacial Research (K12DE022793, R01-DE16558, U01DE017018, R01DE016558)
Topics
  • Health Sciences › Medicine › Pharmacology › Musculoskeletal pain and rehabilitation
  • Health Sciences › Medicine › Psychiatry and Mental health › Fibromyalgia and Chronic Fatigue Syndrome Research
  • Health Sciences › Medicine › Physiology › Pain Mechanisms and Treatments
Keywords
musculoskeletal pain, fibromyalgia, low back pain, phenotypic markers, genetic markers, pain amplification, psychological distress, pain catastrophizing, somatic awareness, psychosocial stress, genetic polymorphism, serotonergic pathways, adrenergic pathways, chronic pain, personalized medicine, biomarkers
MeSH terms
Animals, Chronic Disease, Genetic Markers, Humans, Phenotype, Musculoskeletal Pain

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