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Genetic data collected from a large Chinese population has facilitated the study of many diseases and risk factors, and has demonstrated the importance of conducting genetic studies in populations from different countries. A study by researchers at Oxford Population Health and Peking University that demonstrates the importance of genetic data in population-based studies is published today in Cell Genomics

The researchers analysed data from the China Kadoorie Biobank (CKB), a collaborative study of over 512,000 adults recruited during 2004-08 from ten diverse urban and rural areas across China. Study participants were interviewed about their lifestyle and behaviours, and are followed-up through linkage to hospital records. Analysing the DNA of over 100,000 CKB participants has enabled over 20 million genetic variants to be identified in this population. 

Linking genetic data to the rich collection of lifestyle and disease data, and blood biomarkers, collected by biobank studies such as CKB, enables novel genetic risk factors to be identified which can improve understanding of disease mechanisms and can lead to development of new treatments. 

The study results are publicly available on a web portal for browsing the genetic associations with over 200 different diseases (, which will be an important resource for the scientific community to help uncover the causes of disease. 

Key findings:

  • There is extensive genetic population diversity across different regions of China and genetic profiles can identify historical patterns of migration in Chinese populations; 
  • Genetic analysis in this large Chinese population has contributed to discovering new genetic risk factors for many diseases such as diabetes, stroke, depression and chronic respiratory disease; 
  • Particular genetic variants which are only frequent in East Asian populations can help inform drug target identification and evaluation. 

Robin Walters, Associate Professor at Oxford Population Health and lead author of the study, said ‘This is one of the largest genetic datasets in an East Asian population, which has led to the discovery of many important disease risk factors.’ 

Professor Liming Li, a senior author and CKB co-PI from Peking University, said ‘The China Kadoorie Biobank is an important resource for understanding the causes of disease and demonstrates the value of conducting large-scale research projects in China.’ 

Professor Zhengming Chen, Richard Peto Professor of Epidemiology at Oxford Population Health and a senior author and CKB co-PI, said ‘Using genetic datasets from different populations, such as China, will make an important contribution to global efforts to prevent and treat chronic diseases.’ 

This CKB study plans to expand its genetic analysis from genotyping data in 100,000 participants, to whole genome sequencing in all 512,000 CKB participants which will greatly enhance the opportunities for scientific discoveries.