Identification of Novel Noncoding Genetic Variants of Serum Urate Using Whole‐Genome Sequencing in 7,339 Chinese Participants
Authors' conclusion
By resolving East Asian-specific allelic architecture and revealing ancestral diversity in SU genetics, this study advanced translational opportunities for precision urate-lowering therapies and prioritized novel candidates for future research.
Study context
- Population
- Han Chinese participants from the Healthy Zhejiang One Million People (HOPE) cohort9.1 million variants
- Participants
- 7,339 participants
- Outcome
- SU levels
Methodological detailstwo-stage, whole-genome sequencing-based, genome-wide scan
- Two-stage
- Whole-genome sequencing-based
- Genome-wide scan
Main finding
As reported in the abstract
Genetic variants associated with SU
- Associations at common and low-frequency loci verified
- Novel, replicable male-specific locus at MAN1A2
- Candidate low-frequency male-specific locus at CPE
- Rare missense and putative loss-of-function variant aggregates in genes such as SLC22A12, SLC2A9 and G6PC2, validated in replication data set or UK Biobank
- Novel replicated associations with rare promoter variants near HDC and SLC22A12
- Deep learning-based fine-mapping: transcription factors such as HNF1A, RUNX1 and SRF as potential up-regulators of serum urate (SU)-associated genes
Original publication
Identification of Novel Noncoding Genetic Variants of Serum Urate Using Whole‐Genome Sequencing in 7,339 Chinese Participants. Arthritis Rheumatol. Published 22 April 2026. doi:10.
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