Genetic advances in gout: potential applications in clinical practice

Many novel genetic associations in the field of hyperuricaemia and gout have been described recently. This review discusses advances in gout genetics and their potential clinical applications.

Genome-wide association studies have identified approximately 30 serum urate-associated loci, some of which represent targets for drug development in gout. Some genes implicated in initiating the inflammatory response to deposited crystals in gout flares have also been described. In addition, genetic studies have been used to understand the link between hyperuricaemia and other comorbidities, particularly cardiometabolic diseases. ABCG2 has been established as a key genetic determinant in the onset of gout, and plays a role in the progression and severity of disease. Recent pharmacogenetic studies have also demonstrated the association between ABCG2 and poor response to allopurinol, and the link between HLA-B58:01 genotype and adverse drug reactions to allopurinol.

Advances in gout genetics have provided important molecular insights into disease pathogenesis, better characterized the pharmacogenetics of allopurinol, and raised the possibility of using genetic testing to provide personalized treatment for patients. Prospective studies are now needed to clarify whether genetic testing in gout provides further benefit when added to established clinical management.