期刊連結：http://www.gouthyperuricemia.org

Purpose: To summarize the heterogeneity of gout and the potential of precision medicine in gout.

Findings: Gout is a complex disease with much unresolved clinical questions: (a) continued hyperuricaemia is a physiological prerequisite for gout but only a small proportion of patients with hyperuricaemia develop gout, (b) gout is divided into three subtypes based on 24 hours urine uric acid which is cumbersome and not accurate enough, (c) the frequency of recurrent gout attack varies from person to person which will result in insufficient or excessive prophylactic treatment. Precision medicine is an emerging strategy for disease prediction, prevention, prognosis and treatment by considering an individual’s integrated profiling of multi-level variations. There has been extensive research for gout with promising findings: (a) uromodulin (UMOD), renin (RENIN), hepatocyte nuclear factor-1beta (HNF-1β), hypoxanthine-guanine phosphoribosyltransferase (HPRT1), and phosphoribosylpyrophosphate synthetase (PRPS) are causative agents in monogenic gout and multiple candidate genes associated with urate transport, glucose metabolism and inhibins/activins pathways etc. in common gout, (b) DNA hypermethylation of suppressor of cytokine signaling 1 (SOCS1) and miRNAs are associated with gout arthritis and can present as promising biomarkers or targets for new therapeutics, (c) many substances such as myeloid-related protein 14 (MRP14), purine metabolites, tryptophan and hippuric acid are detected to modulate gout inflammation or promote better classification, (d) gout also involves a considerable nongenetic component including environmental risk factors and gene-environment interactions.

Conclusion: The outlined examples make it clear that precision medicine will transform clinical practice, especially in classification and treatment of gout.