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Uncovering a Genetic Polymorphism Located in Huntingtin Associated Protein 1 in Modulation of Central Pain Sensitization Signaling Pathways

Published inFrontiers in neuroscience, vol. 16, 807773
Publication date2022-06-28
First online date2022-06-28
Abstract

Fibromyalgia syndrome (FMS) is characterized by widespread pain and increased sensitivity to nociceptive stimulus or tenderness. While familial aggregation could suggest a potential hereditary component in FMS development, isolation of genetic determinants has proven difficult due to the multi-factorial nature and complexity of the syndrome. Central sensitization is thought to be one of the key mechanisms leading to FMS in a subset of patients. Enhanced central pain signaling can be measured using the Nociceptive Flexion Reflex (NFR) or RIII threshold. We performed a genome-wide association study (GWAS) using an array to genotype 258,756 human genetic polymorphisms in 225 FMS patients and 77 healthy volunteers and searched for genetic variants associated with a lowered NFR threshold. We have identified a potential association between a single nucleotide polymorphism resulting in a common non-synonymous coding mutation in the Huntingtin associated protein 1 ( HAP1 ) gene (rs4796604, MAF = 0.5) and the NFR threshold ( p = 4.78E−06). The Hap1 protein is involved in trafficking and is particularly enriched in neurons. Our results suggest a possible involvement of the neuronal trafficking protein HAP1 in modulating pain signaling pathways and thus participate in the establishment of the NFR threshold.

Keywords
  • GWAS
  • HAP1
  • Central sensitization
  • Fibromyalgia
  • Nociceptive flection reflex (NFR) threshold
Citation (ISO format)
GLOOR, Yvonne Sylvia et al. Uncovering a Genetic Polymorphism Located in Huntingtin Associated Protein 1 in Modulation of Central Pain Sensitization Signaling Pathways. In: Frontiers in neuroscience, 2022, vol. 16, p. 807773. doi: 10.3389/fnins.2022.807773
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Journal ISSN1662-453X
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