Approved Research

Genetic architecture of human plasma metabolites and its link to complex diseases

Lay summary

Metabolites are biochemicals (or small molecules) present in cells, tissues and body fluids, and can provide insight into an individual's overall health status. The levels of human plasma metabolites are often used as biomarkers for disease risk prediction, diagnosis and therapeutic response. The plasma metabolome is partly heritable. A better understanding of the genetic structure of these metabolites could help to improve complex disease risk prediction and personalize treatment for patients in the clinic. The aim of the project is to study the genetic regulation of human plasma metabolites.

For a period of three years, we propose to conduct a prospective analysis using high-quality data from both in-house and publicly available datasets, including the UK Biobank, to better understand the genetic architecture of plasma metabolite levels and their potential as biomarkers for diagnosis, prognosis, as well as therapeutic response. Specifically, we will: (1) validate previously identified associations between plasma metabolites and genetic factors (referred to as mQTLs) in the UK Biobank, (2) integrate data from the UK Biobank and multiple cross-sectional and longitudinal cohorts to establish a comprehensive genetic architecture of human plasma metabolites, and (3) investigate the relationships between mQTLs and various diseases by integrating data from both human health and disease cohorts. The results will advance our understanding of mQTLs as novel biomarkers for risk prediction and treatment stratification.