GoutIntroductionResearch on the pathogenesis of hyperuricaemia and gout is jointly led by Professor Stuart H Ralston and Dr Philip Riches. Gout is the commonest cause of inflammatory arthritis in men and currently is estimated to affect 1.4% of European populations. Environmental factors known to be associated with gout include alcohol, purine and fructose intake as well as renal impairment, but it has long been recognised that gout risk is inherited. Humans (almost) uniquely develop gout amongst mammalian species due to three missense mutations in the urate oxidase gene in addition to which most patients with gout show reduced renal excretion of uric acid. This is a strongly heritable trait (84% concordance in monozygotic twins). We have contributed to the recent discovery of a novel uric acid transporter SLC2A9 which plays a critical role in the regulation of serum urate levels and gout (Vitart et al Nature Genetics 2008). There have been huge advances in the past few years in the understanding of which genes contribute to the risk of developing gout (reviewed in Riches et al Human Molecular Genetics 2009) though SLC2A9 appears to provide the single most important contribution to the variance of serum urate levels and hence gout. | ||
| Updated: Wed, 22nd September, 2010 |