ArticleNature communications2018
Whole-exome sequencing identifies common and rare variant metabolic QTLs in a Middle Eastern population.
Article in Nature communications, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 51 papers, 2 of them syntheses that pooled it.
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Who cites it
51 citing papers in PubMed, 2 syntheses or guidelines pooled it, 86 citations in OpenAlex.
- Use of Mendelian Randomization to Unveil Metabolic Markers inJournal of Korean medical science · 2026Pooled it
- Comprehensive genetic analysis of the human lipidome identifies loci associated with lipid homeostasis with links to coronary artery disease.Nature communications · 2022Pooled it
- Association of Physical Activity With Bioactive Lipids and Cardiovascular Events.Circulation research · 2022Trial
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- Metabolic GWAS of elite athletes reveals novel genetically-influenced metabolites associated with athletic performance.Scientific reports · 2019Trial
- Organic Anion Transporter Polypeptide 1B1 Polymorphism Modulates the Extent of Drug-Drug Interaction and Associated Biomarker Levels in Healthy Volunteers.Clinical and translational science · 2019Trial
- Differences in First-Trimester Maternal Metabolomic Profiles in Pregnancies Conceived From Fertility Treatments.The Journal of clinical endocrinology and metabolism · 2019Trial
- Genome-wide association studies of missing metabolite measures from two population-based studies.Genome biology · 2026Article
- Analysis of whole genome sequencing and plasma metabolomics unveil genetic determinants and clinical implications for human health.Nature communications · 2026Article
- Integration of metabolomic and genetic data reveals novel variants underpinning the human metabolome: the Coronary Artery Risk Development in Young Adults (CARDIA) study.medRxiv : the preprint server for health sciences · 2026Article
- HUBMet: an integrative database and analytical platform for human blood metabolites and metabolite-protein associations.Genome biology · 2025Article
- Application of Mendelian randomization to explore metabolic pathways in colorectal cancer.Annals of medicine and surgery (2012) · 2025Article
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- Plasma Metabolic Outliers Identified in Estonian Human Knockouts.Metabolites · 2025Article
- Genome-wide association study of plasma amino acids and Mendelian randomization for cardiometabolic traits.Scientific reports · 2025Article
- Coupling metabolomics and exome sequencing reveals graded effects of rare damaging heterozygous variants on gene function and human traits.Nature genetics · 2025Article
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- The full spectrum of SLC22 OCT1 mutations illuminates the bridge between drug transporter biophysics and pharmacogenomics.Molecular cell · 2024Article
- Gene-metabolite annotation with shortest reactional distance enhances metabolite genome-wide association studies results.iScience · 2023Article
- Plasma metabolomics profiles in Black and White participants of the Adventist Health Study-2 cohort.BMC medicine · 2023Article
Corrections and comments
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Authors and funding
18 authors at 4 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Metabolomics-genome-wide association studies (mGWAS) have uncovered many metabolic quantitative trait loci (mQTLs) influencing human metabolic individuality, though predominantly in European cohorts. By combining whole-exome sequencing with a high-resolution metabolomics profiling for a highly consanguineous Middle Eastern population, we discover 21 common variant and 12 functional rare variant mQTLs, of which 45% are novel altogether. We fine-map 10 common variant mQTLs to new metabolite ratio associations, and 11 common variant mQTLs to putative protein-altering variants. This is the first work to report common and rare variant mQTLs linked to diseases and/or pharmacological targets in a consanguineous Arab cohort, with wide implications for precision medicine in the Middle East.
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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.