抄録

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.

本文言語English
論文番号662
ジャーナルCommunications Biology
3
1
DOI
出版ステータスPublished - 2020 12

ASJC Scopus subject areas

  • 医学(その他)
  • 生化学、遺伝学、分子生物学(全般)
  • 農業および生物科学(全般)

フィンガープリント

「Identification of critical genetic variants associated with metabolic phenotypes of the Japanese population」の研究トピックを掘り下げます。これらがまとまってユニークなフィンガープリントを構成します。

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