ArticlePloS one2013
Discovery of potential new gene variants and inflammatory cytokine associations with fibromyalgia syndrome by whole exome sequencing.
Article in PloS one, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
23 citing papers in PubMed, 44 citations in OpenAlex.
- Plasma Cytokine Levels in Fibromyalgia and Their Response to 15 Weeks of Progressive Resistance Exercise or Relaxation Therapy.Mediators of inflammation · 2018Trial
- Non-Invasive Electrochemical Biosensors for Fibromyalgia: A Path Toward Objective Physiological Monitoring and Personalized Management.Sensors (Basel, Switzerland) · 2026Review
- Innovations in acute and chronic pain biomarkers: enhancing diagnosis and personalized therapy.Regional anesthesia and pain medicine · 2025Review
- Decoding Fibromyalgia: Genetic Insights into Gut and Immune System Interactions.Journal of pain research · 2025Article
- Article
- Melatonin as a Coadjuvant in the Treatment of Patients with Fibromyalgia.Biomedicines · 2023Review
- A Comprehensive Review of the Genetic and Epigenetic Contributions to the Development of Fibromyalgia.Biomedicines · 2023Review
- A Link Between Inflammatory Mechanisms and Fibromyalgia.Advances in experimental medicine and biology · 2023Article
- The Role of Vitamin D in the Management of Chronic Pain in Fibromyalgia: A Narrative Review.Health psychology research · 2021Review
- Article
- Role of inflammation in the pathogenesis and treatment of fibromyalgia.Rheumatology international · 2019Review
- New insights into the genetics of fibromyalgia.The Korean journal of internal medicine · 2017Review
- Article
- Ambroxol for the treatment of fibromyalgia: science or fiction?Journal of pain research · 2017Article
- Understanding unspecific complaints through genetics.Nature genetics · 2016Article
- Review
- Fibromyalgia: A Critical and Comprehensive Review.Clinical reviews in allergy & immunology · 2015Review
- Exploring Genetic Susceptibility to Fibromyalgia.Chonnam medical journal · 2015Review
- Analysis of Low Frequency Protein Truncating Stop-Codon Variants and Fasting Concentration of Growth Hormone.PloS one · 2015Article
- Juvenile fibromyalgia: current status of research and future developments.Nature reviews. Rheumatology · 2014Review
Corrections and comments
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Authors and funding
15 authors at 4 institutions in 1 country.
Funding
Abstract
Fibromyalgia syndrome (FMS) is a chronic musculoskeletal pain disorder affecting 2% to 5% of the general population. Both genetic and environmental factors may be involved. To ascertain in an unbiased manner which genes play a role in the disorder, we performed complete exome sequencing on a subset of FMS patients. Out of 150 nuclear families (trios) DNA from 19 probands was subjected to complete exome sequencing. Since >80,000 SNPs were found per proband, the data were further filtered, including analysis of those with stop codons, a rare frequency (<2.5%) in the 1000 Genomes database, and presence in at least 2/19 probands sequenced. Two nonsense mutations, W32X in C11orf40 and Q100X in ZNF77 among 150 FMS trios had a significantly elevated frequency of transmission to affected probands (p = 0.026 and p = 0.032, respectively) and were present in a subset of 13% and 11% of FMS patients, respectively. Among 9 patients bearing more than one of the variants we have described, 4 had onset of symptoms between the ages of 10 and 18. The subset with the C11orf40 mutation had elevated plasma levels of the inflammatory cytokines, MCP-1 and IP-10, compared with unaffected controls or FMS patients with the wild-type allele. Similarly, patients with the ZNF77 mutation have elevated levels of the inflammatory cytokine, IL-12, compared with controls or patients with the wild type allele. Our results strongly implicate an inflammatory basis for FMS, as well as specific cytokine dysregulation, in at least 35% of our FMS cohort.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.