Identification of critical genetic variants associated with metabolic phenotypes of the Japanese population.
Journal
Communications biology
ISSN: 2399-3642
Titre abrégé: Commun Biol
Pays: England
ID NLM: 101719179
Informations de publication
Date de publication:
11 11 2020
11 11 2020
Historique:
received:
01
02
2020
accepted:
18
10
2020
entrez:
12
11
2020
pubmed:
13
11
2020
medline:
29
6
2021
Statut:
epublish
Résumé
We performed a metabolome genome-wide association study for the Japanese population in the prospective cohort study of Tohoku Medical Megabank. By combining whole-genome sequencing and nontarget metabolome analyses, we identified a large number of novel associations between genetic variants and plasma metabolites. Of the identified metabolite-associated genes, approximately half have already been shown to be involved in various diseases. We identified metabolite-associated genes involved in the metabolism of xenobiotics, some of which are from intestinal microorganisms, indicating that the identified genetic variants also markedly influence the interaction between the host and symbiotic bacteria. We also identified five associations that appeared to be female-specific. A number of rare variants that influence metabolite levels were also found, and combinations of common and rare variants influenced the metabolite levels more profoundly. These results support our contention that metabolic phenotyping provides important insights into how genetic and environmental factors provoke human diseases.
Identifiants
pubmed: 33177615
doi: 10.1038/s42003-020-01383-5
pii: 10.1038/s42003-020-01383-5
pmc: PMC7659008
doi:
Substances chimiques
Multienzyme Complexes
0
uridine 5'-monophosphate synthase
74870-74-9
Orotate Phosphoribosyltransferase
EC 2.4.2.10
Orotidine-5'-Phosphate Decarboxylase
EC 4.1.1.23
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
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