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Chinese Population Biobank Highlights Genetic Diversity, Disease Associations

NEW YORK – A Chinese population biobank that currently contains data for more than half a million individuals is not only providing information on population relationships but also on genetic risks for various diseases and traits in individuals of East Asian ancestry.

"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," co-first and co-corresponding author Robin Walters, a population health researcher at the University of Oxford, said in a statement.

The collection, known as the China Kadoorie Biobank (CKB), includes more than 512,000 adult individuals from 10 urban or rural sites in China. Participants have been contributing questionnaires, physical measurements, and blood samples since joining the study at least 15 years ago, between 2004 and 2008, an international research team explained in a paper published in Cell Genomics on Thursday.

"Together with other notable biobanks across the world, the CKB is addressing the recognized need for ancestrally diverse biobanks and will continue to make strong contributions to the East Asian and trans-ancestry genetic analyses that are beginning to correct the strong Euro-centric bias of the genetic literature," the authors wrote.

With custom array-based genotyping profiles for 105,408 CKD participants — coupled with survey results, hospital or disease registry records, death reports, and health insurance data — the team performed a series of genome-wide association studies focused on 224 distinct conditions ranging from atrial fibrillation, depression, or type 2 diabetes to various cancer types.

With genetic insights spanning some 20 million directly genotyped or imputed genetic variants, the investigators narrowed in on new and known genetic risk variants, including previously unappreciated genetic contributors to 14 diseases ranging from respiratory disease to stroke, diabetes, or depression.

These and other findings suggest that "genetic datasets from different populations, such as China, will make an important contribution to global efforts to prevent and treat chronic diseases," co-senior and co-corresponding author Zhengming Chen, a population health researcher at the University of Oxford, said in a statement.

By more fully delineating the genes and pathways contributing to this wide range of conditions, the investigators explained, findings from GWAS performed with the help of CKD data may provide strategies for more effectively targeting or treating disease.

The investigators noted that the large set of CKB genotyping profiles and GWAS results provide an opportunity to impute genetic variants in other individuals from Chinese populations.

"Summary statistics from CKB GWASs have … contributed to the development of methods for genetic association analyses using very low coverage whole-genome sequencing from noninvasive prenatal testing; trans-ancestry colocalization to assess whether two populations share causal variants; and improved genetic discovery in multi-ancestry meta-analyses," the authors wrote.

On the population side, meanwhile, genetic profiles generated for CKB participants so far offered a look at the genetic diversity found in populations in different parts of China, providing a glimpse at past population movements and relationships between groups in different parts of the country.

While the biobank has already "made important contributions to the growing number of studies focused specifically on populations of East Asian ancestry," the authors explained, more extensive genotyping and whole-genome sequencing on CKB participants is expected to unearth still other disease associations and population insights.

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