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The genetics of gout: towards personalised medicine?
BMC Med. 2017 05 31; 15(1):108.BM

Abstract

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.

Authors+Show Affiliations

Department of Medicine, Faculty of Medical and Health Sciences, University of Auckland, 85 Park Rd, Grafton, Auckland, 1023, New Zealand. n.dalbeth@auckland.ac.nz.Department of Medicine, University of Otago, Christchurch, New Zealand.Department of Biochemistry, University of Otago, Dunedin, New Zealand.

Pub Type(s)

Journal Article
Review

Language

eng

PubMed ID

28566086

Citation

Dalbeth, Nicola, et al. "The Genetics of Gout: Towards Personalised Medicine?" BMC Medicine, vol. 15, no. 1, 2017, p. 108.
Dalbeth N, Stamp LK, Merriman TR. The genetics of gout: towards personalised medicine? BMC Med. 2017;15(1):108.
Dalbeth, N., Stamp, L. K., & Merriman, T. R. (2017). The genetics of gout: towards personalised medicine? BMC Medicine, 15(1), 108. https://doi.org/10.1186/s12916-017-0878-5
Dalbeth N, Stamp LK, Merriman TR. The Genetics of Gout: Towards Personalised Medicine. BMC Med. 2017 05 31;15(1):108. PubMed PMID: 28566086.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - The genetics of gout: towards personalised medicine? AU - Dalbeth,Nicola, AU - Stamp,Lisa K, AU - Merriman,Tony R, Y1 - 2017/05/31/ PY - 2017/03/08/received PY - 2017/05/16/accepted PY - 2017/6/2/entrez PY - 2017/6/2/pubmed PY - 2017/10/27/medline KW - Genetics KW - Genome-wide association study KW - Gout KW - Personalised medicine KW - Urate SP - 108 EP - 108 JF - BMC medicine JO - BMC Med VL - 15 IS - 1 N2 - 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. SN - 1741-7015 UR - https://www.unboundmedicine.com/medline/citation/28566086/The_genetics_of_gout:_towards_personalised_medicine DB - PRIME DP - Unbound Medicine ER -