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

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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

DOI 10.1038/nrrheum.2013.43PMC PMC3991785

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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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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
ORCID: Diatchenko, Luda
Fillingim, Roger B.
Smith, Shad B.
Venue: Nature Reviews Rheumatology
Publisher: Springer Science and Business Media LLC
Published: 2013-04-02
Volume: 9
Issue: 6
Pages: 340-350
ISSN: 1759-4790 (ISSN-L)
1759-4804
DOI: 10.1038/nrrheum.2013.43
PMC: PMC3991785
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: green
www.ncbi.nlm.nih.gov
Licence: www.springer.com/tdm (tdm)
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 › Health Professions › Physical Therapy, Sports Therapy and Rehabilitation › Musculoskeletal pain and rehabilitation
Health Sciences › Medicine › Psychiatry and Mental health › Fibromyalgia and Chronic Fatigue Syndrome Research
Health Sciences › Medicine › Physiology (medical) › 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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The phenotypic and genetic signatures of common musculoskeletal pain conditions

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