ArticleNature communications2016
Genome-wide association study and targeted metabolomics identifies sex-specific association of CPS1 with coronary artery disease.
Article in Nature communications, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 83 papers, 7 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
83 citing papers in PubMed, 7 syntheses or guidelines pooled it.
- Use of Mendelian Randomization to Unveil Metabolic Markers inJournal of Korean medical science · 2026Pooled it
- SGLT2 Inhibition, Choline Metabolites, and Cardiometabolic Diseases: A Mediation Mendelian Randomization Study.Diabetes care · 2022Pooled it
- Genome-wide analysis identifies novel susceptibility loci for myocardial infarction.European heart journal · 2021Pooled it
- Pooled it
- Genome-wide analysis highlights contribution of immune system pathways to the genetic architecture of asthma.Nature communications · 2020Pooled it
- Genetic Determinants of Circulating Glycine Levels and Risk of Coronary Artery Disease.Journal of the American Heart Association · 2019Pooled it
- Assessing the causal association of glycine with risk of cardio-metabolic diseases.Nature communications · 2019Pooled it
- Population-based genome-wide association study of plasma complex lipid species.Nature communications · 2026Article
- Sex-stratified genetic regulators of cytokine production in the Dutch and Tanzanian populations.HGG advances · 2026Article
- Transcriptional mechanisms of sex-biased gene expression and their connections to disease-associated variation.Human molecular genetics · 2026Article
- Application of Mendelian randomization to explore metabolic pathways in colorectal cancer.Annals of medicine and surgery (2012) · 2025Article
- Genetic architecture and analysis practices of circulating metabolites in the NHLBI Trans-Omics for Precision Medicine Program.American journal of human genetics · 2025Article
- Genetic analyses across cardiovascular traits: leveraging genetic correlations to empower locus discovery and prediction in common cardiovascular diseases.NPJ genomic medicine · 2025Article
- Trans-omics analyses identify the biochemical network of LPCAT1 associated with coronary artery disease.Biomarker research · 2025Article
- Novel Metabolites Genetically Linked to Salt Sensitivity of Blood Pressure: Evidence from mGWAS in Chinese Population.International journal of molecular sciences · 2025Article
- Multi-ancestry genome-wide association analyses: a comparison of meta- and mega-analyses in the Hyperglycemia and Adverse Pregnancy Outcome (HAPO) study.BMC genomics · 2025Article
- Exploring the Role of Glycine Metabolism in Coronary Artery Disease: Insights from Human Genetics and Mouse Models.Nutrients · 2025Article
- Advancements in Mass Spectrometry-Based Targeted Metabolomics and Lipidomics: Implications for Clinical Research.Molecules (Basel, Switzerland) · 2024Review
- Dietary amino acids intake and all-cause and cause-specific mortality: results from the Golestan Cohort Study.Nutrition journal · 2024Article
- Impact of Sex in the Incidence of Heart Failure in Patients with Chronic Coronary Syndrome.Current heart failure reports · 2024Review
23 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
11 authors.
Funding
Abstract
Metabolites derived from dietary choline and L-carnitine, such as trimethylamine N-oxide and betaine, have recently been identified as novel risk factors for atherosclerosis in mice and humans. We sought to identify genetic factors associated with plasma betaine levels and determine their effect on risk of coronary artery disease (CAD). A two-stage genome-wide association study (GWAS) identified two significantly associated loci on chromosomes 2q34 and 5q14.1. The lead variant on 2q24 (rs715) localizes to carbamoyl-phosphate synthase 1 (CPS1), which encodes a mitochondrial enzyme that catalyses the first committed reaction and rate-limiting step in the urea cycle. Rs715 is also significantly associated with decreased levels of urea cycle metabolites and increased plasma glycine levels. Notably, rs715 yield a strikingly significant and protective association with decreased risk of CAD in only women. These results suggest that glycine metabolism and/or the urea cycle represent potentially novel sex-specific mechanisms for the development of atherosclerosis.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.