China Metabolic Analytics Project
Population-based human genetics in China for precision medicine leading to prevention and treatment of noninfectious chronic diseases
Precision medicine has become the goal of modern healthcare systems, realizing that one treatment does not fit or benefit all. Metabolic diseases, such as type 2 diabetes are becoming a major cause of morbidity and mortality around the world and in China. Applying human genetics in the most comprehensive way through whole genome sequencing of large powered cohorts provides a systematic and cost-effective approach to discovery of genes and pathways that can be used for precision medicine to individualize risk assessment and treatment.
The populations are recruiting in the US and Europe for enough power to detect the most important common variants and low frequency genetic variants of high effect defining the biology of metabolic diseases, including type 2 diabetes and obesity subtypes. Large-scale population genotype-phenotype association studies made significant contributions to our current understanding of common diseases. However, representative and standard database for Chinese populations is still not established. Considering the huge differences of genetic background and population characteristics between Chinese and Europeans, large-scale and comprehensive China biobank and database is urgently needed.
In China, multiple large-scale population-based diabetes screening studies, led by Dr. Guang Ning, has collected blood samples and detailed medical information on over 80,000 Chinese individuals with type 2 diabetes and another 350,000 individuals without type 2 diabetes. One of the cohorts is a national surveillance study within the Chinese Center for Disease Control and Prevention's National Disease Surveillance Point System, 150,000 participants were recruited in this cohort. A second population-based study is the REACTION study, which recruited 250,000 participants in this cohort. Another population-based study is Community-based Cardiovascular Risk During Urbanization in Shanghai, 50,000 participants were recruited in this cohort.
Based on these national-wide epidemiological investigation and follow-up studies, we have established a biobank containing samples of 450,000 participants covering all regions in China. The database of phenotypes, including biochemical tests, anthropometric measurements and questionnaire interview. The China Metabolic Analytics Project (ChinaMAP) plans to complete the genomic database with 100,000 deep whole genome sequencing data and 1,000,000 genotyping array data. The goal of China MAP is to find Chinese common variants and low frequency, high impact variants in novel genes and pathways for metabolic diseases and complications. The findings will define new diagnostic and therapeutic approaches to certain subsets of patients at high risk for noninfectious chronic diseases. It is therefore unique and provides a great opportunity to discover and develop innovated risk assessment, prevention, and therapeutic strategies which will benefit China and the world.
- 2020-03: beta version