DNA methylation signatures distinguish gout from asymptomatic hyperuricaemia and converge with genetic risk at immune-metabolic loci
Main finding · Methylation-based classifiers (test-set AUC)Result — go to the resultAUC 0.91 vs 0.78Authors' conclusion
Peripheral-blood DNA methylation captures reproducible, stage-specific differences across gout, hyperuricaemia, and normouricaemic states converging with immune-metabolic genetic risk.
Study context
- Population
- People with gout, asymptomatic hyperuricaemia and normouricaemic controls; peripheral-blood DNA methylationdiscovery n = 83
- Participants
- 124 / 121 / 124
- Comparison
- Gout vs asymptomatic hyperuricaemia vs normouricaemic controls
- Goutn = 124
- Asymptomatic hyperuricaemian = 121
- Normouricaemic controlsn = 124reference
- Outcome
- DNA methylation signatures distinguishing gout from asymptomatic hyperuricaemia and their utility for molecular stratification
Methodological details2-stage, discovery and independent validation cohorts, genome-wide targeted bisulphite sequencing, targeted amplicon methylation sequencing, LASSO logistic regression classifiers
- 2-stage
- Discovery and independent validation cohorts
- Genome-wide targeted bisulphite sequencing
- Targeted amplicon methylation sequencing
- LASSO logistic regression classifiers
Main finding
Methylation-based classifiers (test-set AUC)
AUC
0.91 vs 0.78
DeLong P = 0.032
As reported in the abstract
- Methylation + clinical variables, gout vs asymptomatic hyperuricaemia: AUC improved
- from 0.67 to 0.87; DeLong P = 0.018
- Methylation-only model, gout vs normouricaemic controls: test-set AUC
- 0.96
- Differentially methylated regions (DMRs) across all 3 pairwise comparisons, mapping to genes overlapping gout/serum urate risk loci (incl. HLA-DRB1, TAP2, GNAS), enriched at TFBSs
- 84 genes
- Validated DMCs used to build classifiers
- 113
Observational data: associations, not effects.
Original publication
DNA methylation signatures distinguish gout from asymptomatic hyperuricaemia and converge with genetic risk at immune-metabolic loci. Ann Rheum Dis. Published 29 September 2026. doi:10.
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