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Review
. 2021 Nov 24;34(3):261-269.
doi: 10.4103/tcmj.tcmj_117_21. eCollection 2022 Jul-Sep.

Genetics of hyperuricemia and gout: Insights from recent genome-wide association studies and Mendelian randomization studies

Yu-Lin Ko  1   2   3
Affiliations
Review

Genetics of hyperuricemia and gout: Insights from recent genome-wide association studies and Mendelian randomization studies

Yu-Lin Ko. Tzu Chi Med J. .

Abstract

Gout is the most common form of inflammatory arthritis in adults. Elevation serum uric acid (SUA) concentration is known to be the key to gout pathogenesis. Since the first genome-wide association study (GWAS) for SUA was performed in 2007, the number of gene loci known to be associated with hyperuricemia and gout has grown rapidly. GWASs and Mendelian randomization studies have also reported numerous novel results regarding the genetics of hyperuricemia and gout since 2018. We concisely review recent advances in scholarship on the effects of genetics on hyperuricemia and gout risk. We also review data from genetic association studies in Taiwan and perform GWASs of SUA levels among Taiwan Biobank participants.

Keywords: Genetics; Genome-wide association study; Gout; Hyperuricemia; Mendelian randomization study.

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Conflict of interest statement

Dr. Yu-Lin Ko, an editorial board member at Tzu Chi Medical Journal, had no role in the peer review process of or decision to publish this article.

Figures

Figure 1
Figure 1
Manhattan plot of a genome-wide association study of serum uric acid levels. Data derived from 27,720 Taiwan Biobank participants with no history of cancer, stroke, coronary artery disease, or systemic disease. A total of 4653 participants were excluded from the analysis, according to the following criteria: fasting for <6 h (622), quality control for the genome-wide association study (2737), and history of gout (1294). The final study population was 23,067 participants. Ten candidate gene loci with genome-wide significant associations were detected
See this image and copyright information in PMC

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