ArticleAmerican journal of human genetics2023
Effects of protein-coding variants on blood metabolite measurements and clinical biomarkers in the UK Biobank.
Article in American journal of human genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 2 of them syntheses that pooled it.
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Who cites it
17 citing papers in PubMed, 2 syntheses or guidelines pooled it, 23 citations in OpenAlex.
- Pooled it
- Meta-analysis of urinary metabolite GWAS studies identifies novel genome-wide significant loci.Scientific reports · 2025Pooled it
- Marine n-3 fatty acid treatment for carotid plaques in patients with type 2 diabetes.Cardiovascular diabetology · 2026Trial
- Rare coding and noncoding variants map 1,342 diseases and biomarkers in 490,549 whole genomes.medRxiv : the preprint server for health sciences · 2026Article
- Exploring a genetic basis for the metabolic perturbations in ME/CFS using UK biobank.iScience · 2026Article
- Ratio-Driven Lipoprotein Mapping Refines Genetic Pathways of Cardiometabolic Risk.Research square · 2026Article
- Genetics of hypertension in populations affected by the Aral Sea ecological crisis: A case-control study.PloS one · 2026Article
- A genetic map of human metabolism across the allele frequency spectrum.Nature genetics · 2025Article
- Population-scale gene-based analysis of whole-genome sequencing provides insights into metabolic health.Nature genetics · 2025Article
- Genetic architecture of plasma metabolome in 254,825 individuals.Nature communications · 2025Article
- Genome-wide association study for circulating metabolic traits in 619,372 individuals.medRxiv : the preprint server for health sciences · 2025Article
- Coupling metabolomics and exome sequencing reveals graded effects of rare damaging heterozygous variants on gene function and human traits.Nature genetics · 2025Article
- Plasma metabolite profiles related to dietary patterns: exploring the association with colorectal tumor risk.European journal of nutrition · 2024Article
- Large-scale whole-exome sequencing analyses identified protein-coding variants associated with immune-mediated diseases in 350,770 adults.Nature communications · 2024Article
- Drug-target Mendelian randomization analysis supports lowering plasma ANGPTL3, ANGPTL4, and APOC3 levels as strategies for reducing cardiovascular disease risk.European heart journal open · 2024Article
- Uncovering genetic associations in the human diseasome using an endophenotype-augmented disease network.Bioinformatics (Oxford, England) · 2024Article
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Corrections and comments
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Authors and funding
15 authors at 4 institutions in 6 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Genome-wide association studies (GWASs) have established the contribution of common and low-frequency variants to metabolic blood measurements in the UK Biobank (UKB). To complement existing GWAS findings, we assessed the contribution of rare protein-coding variants in relation to 355 metabolic blood measurements-including 325 predominantly lipid-related nuclear magnetic resonance (NMR)-derived blood metabolite measurements (Nightingale Health Plc) and 30 clinical blood biomarkers-using 412,393 exome sequences from four genetically diverse ancestries in the UKB. Gene-level collapsing analyses were conducted to evaluate a diverse range of rare-variant architectures for the metabolic blood measurements. Altogether, we identified significant associations (p < 1 × 10
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