What does this research mean for the field?

GWAS-prioritized neural genes, specifically MDGA2 and DRD2, are robustly upregulated in the peripheral blood mononuclear cells of fibromyalgia patients. Novelty: ClaimNovelty.INCREMENTAL. Consensus alignment: ConsensusAlignment.NEUTRAL.

What question did this study set out to answer?

This research aims to reanalyze existing GWAS and transcriptomic data to identify differential expressions of neural genes in fibromyalgia.

June 1, 20260 citationsOpen Access

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Grizaceo/protein-lab: fibromyalgia GWAS-transcriptomics reanalysis.

CRCristóbal Luis Muñoz Rojas

Key Points

This research aims to reanalyze existing GWAS and transcriptomic data to identify differential expressions of neural genes in fibromyalgia.
Conducted sensitivity analysis across five models on public transcriptomic datasets.
Performed a cross-context comparison between PBMCs and whole blood for neural GWAS signals.
Reviewed evidence from a dopamine agonist randomized controlled trial.
MDGA2 and DRD2 found to be upregulated in fibromyalgia PBMCs across all five models (sex-adjusted).
Demonstrated a contrast in gene expression dependent on cell fraction; neural GWAS signals in PBMCs vs mast cell signals in whole blood.
No replication of Pramipexole RCT findings after 21 years.

Abstract

First stable release of the fibromyalgia GWAS-transcriptomics reanalysis. Preprint: GWAS-Prioritized Neural Genes Are Differentially Expressed in Fibromyalgia PBMCs: A Targeted Reanalysis of Public Transcriptomic Cohorts (Draft v2. 0, May 2026) Key scripts: sensitivityₐnalysisgse221921. py: Five-model sensitivity analysis (primary). crosscontextgwasₙeuralgenes. py: PBMC vs. whole blood cross-context comparison. phase2ᵣctᵣeview. py: Dopamine agonist RCT evidence table. Key results: MDGA2 and DRD2 robustly upregulated in FM PBMCs (5/5 models, sex-adjusted). Cell-fraction-dependent contrast: neural GWAS signal in PBMCs, mast cell panel in whole blood. Pramipexole RCT (Holman & Myers 2005) remains unreplicated after 21 years. Datasets: GSE221921 (PBMC, n=189), GSE67311 (whole blood, n=140) GWAS source: Kerrebijn et al. 2025 (PMID 41001472)

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Grizaceo/protein-lab: fibromyalgia GWAS-transcriptomics reanalysis.

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Abstract

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