Metabolome Genome-Wide Association Study Identifies 74 Novel Genomic Regions Influencing Plasma Metabolites Levels

Metabolites

NIHR Bioresource Investigators¹  Massimo Mangino²  Paraskevi Christofidou²  Mario Falchi²  Cristina Menni²  Pirro G. Hysi²  Tim D. Spector²  Ana M. Valdes²  Edward D. Karoly³  Robert P. Mohney³ 

[1] ;Department of Twin Research and Genetic Epidemiology, King’s College London, London SE1 7EH, UK;Discovery and Translational Sciences, Metabolon Inc., Raleigh-Durham, NC 27560, USA;

关键词: metabolomics;    genome-wise association study;    bioresource;   

DOI  :  10.3390/metabo12010061

来源: DOAJ

【 摘 要 】

Metabolites are small products of metabolism that provide a snapshot of the wellbeing of an organism and the mechanisms that control key physiological processes involved in health and disease. Here we report the results of a genome-wide association study of 722 circulating metabolite levels in 8809 subjects of European origin, providing both breadth and depth. These analyses identified 202 unique genomic regions whose variations are associated with the circulating levels of 478 different metabolites. Replication with a subset of 208 metabolites that were available in an independent dataset for a cohort of 1768 European subjects confirmed the robust associations, including 74 novel genomic regions not associated with any metabolites in previous works. This study enhances our knowledge of genetic mechanisms controlling human metabolism. Our findings have major potential for identifying novel targets and developing new therapeutic strategies.

【 授权许可】

Unknown