Gout & crystal arthritis

Genetic contributions to female gout and hyperuricaemia using genome-wide association study and polygenic risk score analyses

Rheumatology (Oxford)Published Genome-wide association study

Authors' conclusion

The variants in gene SLC2A9 are the major genetic factors for females associated with gout in those aged ≥50.

Study context

Population
Females from Taiwan biobank and China Medical University Hospital
Participants
59,472 females
Comparison
Gout and asymptomatic hyperuricaemia vs normouricemia controls
Outcome
Genetic variants and PRS relating to female gout and AH
Methodological detailsdiscovery and replication cohorts, polygenic risk score analysis, stratified by age 50 years
  • Discovery and replication cohorts
  • Polygenic risk score analysis
  • Stratified by age 50 years

Performance

As reported in the abstract

Further findings

Variance of gout explained by polygenic risk score (PRS) in variants with protective effects
∼0.59% to 0.89%
Mean PRS in risk variants, gout (times)
6.2
Mean PRS in risk variants, asymptomatic hyperuricaemia (AH) (times)
1.2
Dose-response trend between AH rates and PRS quartile scores

Original publication

Genetic contributions to female gout and hyperuricaemia using genome-wide association study and polygenic risk score analyses. Rheumatology (Oxford). Published 27 June 2022. doi:10.1093/rheumatology/keac369

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