# Genome-wide association studies and traditional Chinese medicine in hyperuricemia: current evidence and mechanistic insights

**Authors:** Le Yang, Jing Liu, Shengping Luo, Yihui Deng

PMC · DOI: 10.3389/fphar.2025.1647264 · Frontiers in Pharmacology · 2026-01-12

## TL;DR

This paper reviews genetic factors and traditional Chinese medicine approaches in managing hyperuricemia and related diseases.

## Contribution

It integrates recent GWAS findings with TCM mechanisms to suggest future research directions for uric acid regulation.

## Key findings

- GWAS identified key genetic loci like SLC2A9 and ABCG2 linked to serum uric acid levels.
- TCM shows multi-component regulation of uric acid production and excretion.
- The paper highlights gaps in GWAS and TCM research and proposes synergistic future studies.

## Abstract

Hyperuricemia is a significant risk factor for gout, cardiovascular disease, and chronic kidney disease, and its global prevalence has continued to rise. Genome-wide association studies (GWAS) have made significant advances in elucidating the genetic basis of serum uric acid levels, identifying key loci such as SLC2A9, ABCG2, SLC22A12, GCKR, and HNF4A, while also revealing population heterogeneity and gene–environment interactions. Concurrently, traditional Chinese medicine (TCM) has demonstrated multi-component, multi-pathway regulatory effects on uric acid production, renal and intestinal excretion, inflammatory responses, and gut microbiota. This review summarizes recent GWAS advances in hyperuricemia and compiles experimental and mechanistic studies on TCM regulation of uric acid homeostasis over the past 5 years. Furthermore, the discussion section outlines current limitations in both GWAS and TCM research, proposes potential connections between them in specific regulatory processes, and explores possible directions for future mechanistic studies and the development of intervention strategies.

## Linked entities

- **Genes:** SLC2A9 (solute carrier family 2 member 9) [NCBI Gene 56606], ABCG2 (ATP binding cassette subfamily G member 2 (JR blood group)) [NCBI Gene 9429], SLC22A12 (solute carrier family 22 member 12) [NCBI Gene 116085], GCKR (glucokinase regulator) [NCBI Gene 2646], HNF4A (hepatocyte nuclear factor 4 alpha) [NCBI Gene 3172]
- **Diseases:** gout (MONDO:0005393), cardiovascular disease (MONDO:0004995), chronic kidney disease (MONDO:0005300), hyperuricemia (MONDO:0002144)

## Full-text entities

- **Genes:** HNF4A (hepatocyte nuclear factor 4 alpha) [NCBI Gene 3172] {aka FRTS4, HNF4, HNF4a7, HNF4a8, HNF4a9, HNF4alpha}, SLC2A9 (solute carrier family 2 member 9) [NCBI Gene 56606] {aka GLUT9, GLUTX, UAQTL2, URATv1}, ABCG2 (ATP binding cassette subfamily G member 2 (JR blood group)) [NCBI Gene 9429] {aka ABC15, ABCP, BCRP, BMDP, CD338, CDw338}, GCKR (glucokinase regulator) [NCBI Gene 2646] {aka FGQTL5, GKRP}, SLC22A12 (solute carrier family 22 member 12) [NCBI Gene 116085] {aka OAT4L, RST, UAT, URAT1, hURAT1}
- **Diseases:** cardiovascular disease (MESH:D002318), gout (MESH:D006073), inflammatory (MESH:D007249), chronic kidney disease (MESH:D051436), Hyperuricemia (MESH:D033461)
- **Chemicals:** uric acid (MESH:D014527)

## Full text

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## Figures

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## References

130 references — full list in the complete paper: https://tomesphere.com/paper/PMC12833252/full.md

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Source: https://tomesphere.com/paper/PMC12833252