한빛사논문
- 조회442
Chamlee Cho 1,13, Beomsu Kim 1,13, Dan Say Kim 1,13, Mi Yeong Hwang 2, Injeong Shim 1, Minku Song 1, Yeong Chan Lee 3, Sang-Hyuk Jung 4, Sung Kweon Cho 5, Woong-Yang Park 6, Woojae Myung 7, Bong-Jo Kim 2, Ron Do 8,9, Hyon K. Choi 10, Tony R. Merriman 11,12, Young Jin Kim 2,14,* & Hong-Hee Won 1,6,14,*
1Department of Digital Health, Samsung Advanced Institute for Health Sciences and Technology (SAIHST), Sungkyunkwan University, Samsung Medical Center, Seoul, Republic of Korea.
2Division of Genome Science, Department of Precision Medicine, National Institute of Health, Cheongju-si, Chungcheongbuk-do, Republic of Korea.
3Research Institute for Future Medicine, Samsung Medical Center, Seoul, Republic of Korea.
4Department of Biostatistics, Epidemiology and Informatics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
5Department of Pharmacology, Ajou University School of Medicine (AUSOM), Suwon, Republic of Korea.
6Samsung Genome Institute, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.
7Department of Neuropsychiatry, Seoul National University Bundang Hospital, Seongnam, Republic of Korea.
8The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
9Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
10Division of Rheumatology, Allergy and Immunology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.
11Biochemistry Department, University of Otago, Dunedin, New Zealand.
12Division of Clinical Immunology and Rheumatology, University of Alabama at Birmingham, Birmingham, AL, USA.
13These authors contributed equally: Chamlee Cho, Beomsu Kim, Dan Say Kim.
14These authors jointly supervised this work: Young Jin Kim and Hong-Hee Won.
*Corresponding authors: correspondence to Young Jin Kim or Hong-Hee Won
Abstract
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.
논문정보
- Research article
- 2024년 04월 (BRIC 등록일 2024-04-25)
- 국내(교신)+국외 연구진
- 의약학 > 유전 및 유전체의학
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