ArticleScientific reports2016
The structural origin of metabolic quantitative diversity.
Article in Scientific reports, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 26 citations in OpenAlex.
- Evaluation of reported pathogenic variants and their frequencies in a Japanese population based on a whole-genome reference panel of 2049 individuals.Journal of human genetics · 2018Trial
- Association ofGenes · 2025Article
- Simulating metabolic pathways to enhance interpretations of metabolome genome-wide association studies.Scientific reports · 2025Article
- Metabolomic Profiling of Open-Angle Glaucoma Etiologic Endotypes: Tohoku Multi-Omics Glaucoma Study.Investigative ophthalmology & visual science · 2024Article
- Identifying critical age and gender-based metabolomic shifts in a Japanese population of the Tohoku Medical Megabank cohort.Scientific reports · 2024Article
- Article
- Comparison of Kit-Based Metabolomics with Other Methodologies in a Large Cohort, towards Establishing Reference Values.Metabolites · 2021Article
- Clinical and Genetic Characteristics of Patients with Mild Hyperphenylalaninemia Identified by Newborn Screening Program in Japan.International journal of neonatal screening · 2021Article
- Identification of critical genetic variants associated with metabolic phenotypes of the Japanese population.Communications biology · 2020Article
- Establishment of Integrated Biobank for Precision Medicine and Personalized Healthcare: The Tohoku Medical Megabank Project.JMA journal · 2019Article
- Estimating carrier frequencies of newborn screening disorders using a whole-genome reference panel of 3552 Japanese individuals.Human genetics · 2019Article
- Maternity Log study: a longitudinal lifelog monitoring and multiomics analysis for the early prediction of complicated pregnancy.BMJ open · 2019Article
- jMorp: Japanese Multi Omics Reference Panel.Nucleic acids research · 2018Article
- Security controls in an integrated Biobank to protect privacy in data sharing: rationale and study design.BMC medical informatics and decision making · 2017Article
Corrections and comments
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Authors and funding
31 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Relationship between structural variants of enzymes and metabolic phenotypes in human population was investigated based on the association study of metabolite quantitative traits with whole genome sequence data for 512 individuals from a population cohort. We identified five significant associations between metabolites and non-synonymous variants. Four of these non-synonymous variants are located in enzymes involved in metabolic disorders, and structural analyses of these moderate non-synonymous variants demonstrate that they are located in peripheral regions of the catalytic sites or related regulatory domains. In contrast, two individuals with larger changes of metabolite levels were also identified, and these individuals retained rare variants, which caused non-synonymous variants located near the catalytic site. These results are the first demonstrations that variant frequency, structural location, and effect for phenotype correlate with each other in human population, and imply that metabolic individuality and susceptibility for diseases may be elicited from the moderate variants and much more deleterious but rare variants.
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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.