ArticleBrain communications2023
Investigating genotype-phenotype relationship of extreme neuropathic pain disorders in a UK national cohort.
Article in Brain communications, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 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.
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Who cites it
10 citing papers in PubMed, 21 citations in OpenAlex.
- GWAS of extended prescription analgesic use identifies genetic loci in chronic pain.Nature communications · 2026Article
- Mapping the Extended Pain Pathway: Human Genetic and Multi-Omic Strategies for Next-Generation Analgesics.International journal of molecular sciences · 2026Review
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- Article
- Bibliometric Analysis: Insights Into the Podiatric Medicine Landscape of Diabetic Sensory Peripheral Neuropathy and Genomics.Journal of foot and ankle research · 2025Article
- Multi-omic integration with human DRG proteomics highlights TNFα signalling as a relevant sexually dimorphic pathway.bioRxiv : the preprint server for biology · 2025Article
- Pain without presence: a narrative review of the pathophysiological landscape of phantom limb pain.Frontiers in pain research (Lausanne, Switzerland) · 2025Review
- A machine learning enhanced EMS mutagenesis probability map for efficient identification of causal mutations in Caenorhabditis elegans.PLoS genetics · 2024Article
- Genetic Analysis ofInternational journal of molecular sciences · 2024Article
- Predicting 'pain genes': multi-modal data integration using probabilistic classifiers and interaction networks.Bioinformatics advances · 2024Article
Corrections and comments
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Authors and funding
25 authors at 11 institutions in 1 country.
Funding
Abstract
The aims of our study were to use whole genome sequencing in a cross-sectional cohort of patients to identify new variants in genes implicated in neuropathic pain, to determine the prevalence of known pathogenic variants and to understand the relationship between pathogenic variants and clinical presentation. Patients with extreme neuropathic pain phenotypes (both sensory loss and gain) were recruited from secondary care clinics in the UK and underwent whole genome sequencing as part of the National Institute for Health and Care Research Bioresource Rare Diseases project. A multidisciplinary team assessed the pathogenicity of rare variants in genes previously known to cause neuropathic pain disorders and exploratory analysis of research candidate genes was completed. Association testing for genes carrying rare variants was completed using the gene-wise approach of the combined burden and variance-component test SKAT-O. Patch clamp analysis was performed on transfected HEK293T cells for research candidate variants of genes encoding ion channels. The results include the following: (i) Medically actionable variants were found in 12% of study participants (205 recruited), including known pathogenic variants:
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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.