Identification of Novel Non-coding Genetic Variants of Serum Urate Using Whole Genome Sequencing in 7,339 Chinese - PubMed
4 hours ago
- #genetics
- #East-Asian
- #urate
- Study investigates low-frequency and rare genetic variants of serum urate (SU) in East Asian populations.
- Largest two-stage whole-genome sequencing-based genome-wide scan for SU levels in East Asians with 7,339 Han Chinese participants.
- Identified novel male-specific loci at MAN1A2 and CPE, and rare variant aggregates in genes like SLC22A12, SLC2A9, and G6PC2.
- Discovered rare promoter variants near HDC and SLC22A12, suggesting non-coding regulatory roles.
- Deep learning fine-mapping highlighted transcription factors (HNF1A, RUNX1, SRF) as potential SU gene up-regulators.
- Findings provide insights for precision urate-lowering therapies and future research targets.