ArticlePLoS genetics2014
Genetic determinants influencing human serum metabolome among African Americans.
Article in PLoS genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 76 papers, 4 of them syntheses that pooled it.
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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.
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Who cites it
76 citing papers in PubMed, 4 syntheses or guidelines pooled it, 104 citations in OpenAlex.
- Use of Mendelian Randomization to Unveil Metabolic Markers inJournal of Korean medical science · 2026Pooled it
- Trans-ethnic genome-wide association study of blood metabolites in the Chronic Renal Insufficiency Cohort (CRIC) study.Kidney international · 2022Pooled it
- Germline and somatic genetic predictors of pathological response in neoadjuvant settings of rectal and esophageal cancers: systematic review and meta-analysis.The pharmacogenomics journal · 2016Pooled it
- Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels.Nature communications · 2015Pooled it
- Trial
- Cross-population metabolome-wide Mendelian randomization study of prostate cancer risk.Research square · 2026Article
- Causal associations between circulating metabolites and chronic kidney disease: a Mendelian randomization study.Renal failure · 2025Article
- Application of Mendelian randomization to explore metabolic pathways in colorectal cancer.Annals of medicine and surgery (2012) · 2025Article
- Crosstalk of kidney and brain in diabetes-related cognitive impairment and therapeutic strategies.Frontiers in endocrinology · 2025Review
- Assessing the efficacy of the natural disaccharide trehalose in ameliorating diet-induced obesity and metabolic dysfunction.Frontiers in nutrition · 2025Article
- Ancestrally diverse genome-wide association analysis highlights ancestry-specific differences in genetic regulation of plasma protein levels.medRxiv : the preprint server for health sciences · 2024Article
- Overview of carboxyl‑terminal modulator protein 1 and its importance in various metabolic regulations (Review).Molecular medicine reports · 2024Review
- Genetic variants affecting mitochondrial function provide further insights for kidney disease.BMC genomics · 2024Article
- Article
- Metabolomic and Physiological Effects of a Cardiorenal Protective Diet Intervention in African American Adults with Chronic Kidney Disease.Metabolites · 2024Article
- Causal impact of human blood metabolites and metabolic pathways on serum uric acid and gout: a mendelian randomization study.Frontiers in endocrinology · 2024Article
- An extension of latent unknown clustering integrating multi-omics data (LUCID) incorporating incomplete omics data.Bioinformatics advances · 2024Article
- Causal effects of plasma metabolites on chronic kidney diseases and renal function: a bidirectional Mendelian randomization study.Frontiers in endocrinology · 2024Article
- Gene-metabolite annotation with shortest reactional distance enhances metabolite genome-wide association studies results.iScience · 2023Article
- Metabolomic profiling of preterm birth in pregnant women living with HIV.Metabolomics : Official journal of the Metabolomic Society · 2023Article
16 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
6 authors at 3 institutions in 1 country.
Funding
Abstract
Phenotypes proximal to gene action generally reflect larger genetic effect sizes than those that are distant. The human metabolome, a result of multiple cellular and biological processes, are functional intermediate phenotypes proximal to gene action. Here, we present a genome-wide association study of 308 untargeted metabolite levels among African Americans from the Atherosclerosis Risk in Communities (ARIC) Study. Nineteen significant common variant-metabolite associations were identified, including 13 novel loci (p<1.6 × 10(-10)). These loci were associated with 7-50% of the difference in metabolite levels per allele, and the variance explained ranged from 4% to 20%. Fourteen genes were identified within the nineteen loci, and four of them contained non-synonymous substitutions in four enzyme-encoding genes (KLKB1, SIAE, CPS1, and NAT8); the other significant loci consist of eight other enzyme-encoding genes (ACE, GATM, ACY3, ACSM2B, THEM4, ADH4, UGT1A, TREH), a transporter gene (SLC6A13) and a polycystin protein gene (PKD2L1). In addition, four potential disease-associated paths were identified, including two direct longitudinal predictive relationships: NAT8 with N-acetylornithine, N-acetyl-1-methylhistidine and incident chronic kidney disease, and TREH with trehalose and incident diabetes. These results highlight the value of using endophenotypes proximal to gene function to discover new insights into biology and disease pathology.
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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.