The genetics of gout: towards personalised medicine?

BMC Medicine

Minireview

Tony R. Merriman¹  Nicola Dalbeth²  Lisa K. Stamp³ 

[1] Department of Biochemistry, University of Otago, Dunedin, New Zealand;Department of Medicine, Faculty of Medical and Health Sciences, University of Auckland, 85 Park Rd, 1023, Grafton, Auckland, New Zealand;Department of Medicine, University of Otago, Christchurch, New Zealand;

关键词: Gout;    Urate;    Genetics;    Genome-wide association study;    Personalised medicine;   

DOI  :  10.1186/s12916-017-0878-5

 received in 2017-03-08, accepted in 2017-05-16,  发布年份 2017

来源: Springer

【 摘 要 】

Over the last decade, there have been major advances in the understanding of the genetic basis of hyperuricaemia and gout as well as of the pharmacogenetics of urate-lowering therapy. Key findings include the reporting of 28 urate-associated loci, the discovery that ABCG2 plays a central role on extra-renal uric acid excretion, the identification of genes associated with development of gout in the context of hyperuricaemia, recognition that ABCG2 variants influence allopurinol response, and the impact of HLA-B*5801 testing in reducing the prevalence of allopurinol hypersensitivity in high-risk populations. These advances, together with the reducing cost of whole genome sequencing, mean that integrated personalised medicine approaches may soon be possible in clinical practice. Genetic data may inform assessment of disease prognosis in individuals with hyperuricaemia or established gout, personalised lifestyle advice, selection and dosing of urate-lowering therapy, and prevention of serious medication adverse effects. In this article, we summarise the discoveries from genome-wide association studies and discuss the potential for translation of these findings into clinical practice.

【 授权许可】

CC BY   
© The Author(s). 2017