ArticleEuropean journal of human genetics : EJHG2019
Genetic basis for plasma amino acid concentrations based on absolute quantification: a genome-wide association study in the Japanese population.
Article in European journal of human genetics : EJHG, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.
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Who cites it
12 citing papers in PubMed, 1 synthesis or guideline pooled it, 21 citations in OpenAlex.
- Assessing the causal association of glycine with risk of cardio-metabolic diseases.Nature communications · 2019Pooled it
- CARDIOKIN1: Computational Assessment of Myocardial Metabolic Capability in Healthy Controls and Patients With Valve Diseases.Circulation · 2021Trial
- Genome-wide association study of plasma amino acids and Mendelian randomization for cardiometabolic traits.Scientific reports · 2025Article
- Gut microbiota changes in postmenopausal women with low bone density linked to serum amino acid metabolism.Frontiers in cellular and infection microbiology · 2025Article
- Genetic legacy of ancient hunter-gatherer Jomon in Japanese populations.Nature communications · 2024Article
- Leveraging molecular quantitative trait loci to comprehend complex diseases/traits from the omics perspective.Human genetics · 2023Review
- Nontargeted and Targeted Metabolomic Profiling Reveals Novel Metabolite Biomarkers of Incident Diabetes in African Americans.Diabetes · 2022Article
- Safety, PK/PD and preliminary anti-tumor activities of pegylated recombinant human arginase 1 (BCT-100) in patients with advanced arginine auxotrophic tumors.Investigational new drugs · 2021Article
- The association of genetically determined serum glycine with cardiovascular risk in East Asians.Nutrition, metabolism, and cardiovascular diseases : NMCD · 2021Article
- Transport of L-Arginine Related Cardiovascular Risk Markers.Journal of clinical medicine · 2020Review
- Systemic lipid dysregulation is a risk factor for macular neurodegenerative disease.Scientific reports · 2020Article
- DNA Methylation Signatures of Breastfeeding in Buccal Cells Collected in Mid-Childhood.Nutrients · 2019Article
Corrections and comments
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Authors and funding
19 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
To assess the use of plasma free amino acids (PFAAs) as biomarkers for metabolic disorders, it is essential to identify genetic factors that influence PFAA concentrations. PFAA concentrations were absolutely quantified by liquid chromatography-mass spectrometry using plasma samples from 1338 Japanese individuals, and genome-wide quantitative trait locus (QTL) analysis was performed for the concentrations of 21 PFAAs. We next conducted a conditional QTL analysis using the concentration of each PFAA adjusted by the other 20 PFAAs as covariates to elucidate genetic determinants that influence PFAA concentrations. We identified eight genes that showed a significant association with PFAA concentrations, of which two, SLC7A2 and PKD1L2, were identified. SLC7A2 was associated with the plasma levels of arginine and ornithine, and PKD1L2 with the level of glycine. The significant associations of these two genes were revealed in the conditional QTL analysis, but a significant association between serine and the CPS1 gene disappeared when glycine was used as a covariate. We demonstrated that conditional QTL analysis is useful for determining the metabolic pathways predominantly used for PFAA metabolism. Our findings will help elucidate the physiological roles of genetic components that control the metabolism of amino acids.
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