Cho Chamlee, Kim Beomsu, Kim Dan Say, Hwang Mi Yeong, Shim Injeong, Song Minku, Lee Yeong Chan, Jung Sang-Hyuk, Cho Sung Kweon, Park Woong-Yang, Myung Woojae, Kim Bong-Jo, Do Ron, Choi Hyon K, Merriman Tony R, Kim Young Jin, Won Hong-Hee
Department of Digital Health, Samsung Advanced Institute for Health Sciences and Technology (SAIHST), Sungkyunkwan University, Samsung Medical Center, Seoul, Republic of Korea.
Division of Genome Science, Department of Precision Medicine, National Institute of Health, Cheongju-si, Chungcheongbuk-do, Republic of Korea.
Nat Commun. 2024 Apr 24;15(1):3441. doi: 10.1038/s41467-024-47805-4.
Hyperuricemia is an essential causal risk factor for gout and is associated with cardiometabolic diseases. Given the limited contribution of East Asian ancestry to genome-wide association studies of serum urate, the genetic architecture of serum urate requires exploration. A large-scale cross-ancestry genome-wide association meta-analysis of 1,029,323 individuals and ancestry-specific meta-analysis identifies a total of 351 loci, including 17 previously unreported loci. The genetic architecture of serum urate control is similar between European and East Asian populations. A transcriptome-wide association study, enrichment analysis, and colocalization analysis in relevant tissues identify candidate serum urate-associated genes, including CTBP1, SKIV2L, and WWP2. A phenome-wide association study using polygenic risk scores identifies serum urate-correlated diseases including heart failure and hypertension. Mendelian randomization and mediation analyses show that serum urate-associated genes might have a causal relationship with serum urate-correlated diseases via mediation effects. This study elucidates our understanding of the genetic architecture of serum urate control.
高尿酸血症是痛风的重要致病危险因素,且与心脏代谢疾病相关。鉴于东亚血统对血清尿酸全基因组关联研究的贡献有限,血清尿酸的遗传结构有待探索。一项对1,029,323名个体进行的大规模跨血统全基因组关联荟萃分析以及特定血统荟萃分析共鉴定出351个基因座,其中包括17个先前未报告的基因座。欧洲和东亚人群血清尿酸控制的遗传结构相似。一项在相关组织中进行的全转录组关联研究、富集分析和共定位分析确定了候选血清尿酸相关基因,包括CTBP1、SKIV2L和WWP2。一项使用多基因风险评分的全表型组关联研究确定了与血清尿酸相关的疾病,包括心力衰竭和高血压。孟德尔随机化和中介分析表明,血清尿酸相关基因可能通过中介作用与血清尿酸相关疾病存在因果关系。本研究阐明了我们对血清尿酸控制遗传结构的理解。