Details

Autor(en) / Beteiligte

• Koshiba, Seizo
• Motoike, Ikuko N
• Saigusa, Daisuke
• Inoue, Jin
• Aoki, Yuichi
• Tadaka, Shu
• Shirota, Matsuyuki
• Katsuoka, Fumiki
• Tamiya, Gen
• Minegishi, Naoko
• Fuse, Nobuo
• Kinoshita, Kengo
• Yamamoto, Masayuki

Titel

Identification of critical genetic variants associated with metabolic phenotypes of the Japanese population

Ist Teil von

• Communications biology, 2020-11, Vol.3 (1), p.662-662, Article 662

Ort / Verlag

England: Nature Publishing Group

Erscheinungsjahr

2020

Quelle

EZB Electronic Journals Library

Beschreibungen/Notizen

• 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.