Genotyping and population characteristics of the China Kadoorie Biobank

Robin G Walters; Iona Y Millwood; Kuang Lin; Dan Schmidt Valle; Pandora McDonnell; Alex Hacker; Daniel Avery; Ahmed Edris; Hannah Fry; Na Cai; Warren W Kretzschmar; M Azim Ansari; Paul A Lyons; Rory Collins; Peter Donnelly; Michael Hill; Richard Peto; Hongbing Shen; Xin Jin; Chao Nie; Xun Xu; Yu Guo; Canqing Yu; Jun Lv; Robert J Clarke; Liming Li; Zhengming Chen; China Kadoorie Biobank Collaborative Group

doi:10.1016/j.xgen.2023.100361

Genotyping and population characteristics of the China Kadoorie Biobank

Cell Genom. 2023 Jul 20;3(8):100361. doi: 10.1016/j.xgen.2023.100361. eCollection 2023 Aug 9.

Authors

Robin G Walters^{1

2}, Iona Y Millwood^{1

2}, Kuang Lin¹, Dan Schmidt Valle¹, Pandora McDonnell¹, Alex Hacker¹, Daniel Avery¹, Ahmed Edris¹, Hannah Fry¹, Na Cai³, Warren W Kretzschmar³, M Azim Ansari^{4

5}, Paul A Lyons^{6

7}, Rory Collins¹, Peter Donnelly³, Michael Hill^{1

2}, Richard Peto¹, Hongbing Shen⁸, Xin Jin⁹, Chao Nie⁹, Xun Xu⁹, Yu Guo¹⁰, Canqing Yu^{11

12}, Jun Lv^{11

12}, Robert J Clarke¹, Liming Li^{11

12}, Zhengming Chen^{1

2}; China Kadoorie Biobank Collaborative Group

Affiliations

¹ Nuffield Department of Population Health, University of Oxford, Oxford OX3 7LF, UK.
² MRC Population Health Research Unit, University of Oxford, Oxford OX3 7LF, UK.
³ Wellcome Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK.
⁴ Nuffield Department of Medicine, Oxford University, Oxford OX1 3SY, UK.
⁵ NIHR Oxford Biomedical Research Centre, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 9DU, UK.
⁶ Cambridge Institute for Therapeutic Immunology and Infectious Disease, University of Cambridge, Cambridge CB2 0AW, UK.
⁷ Department of Medicine, University of Cambridge, Cambridge CB2 0QQ, UK.
⁸ Department of Epidemiology, Collaborative Innovation Center for Cancer Medicine, Nanjing Medical University, Nanjing 211116, China.
⁹ BGI-Shenzhen, Shenzhen 518083, China.
¹⁰ Fuwai Hospital, Chinese Academy of Medical Sciences, Beijing 100037, China.
¹¹ Department of Epidemiology and Biostatistics, School of Public Health, Peking University, Beijing 100191, China.
¹² Center for Public Health and Epidemic Preparedness and Response, Peking University, Beijing 100191, China.

Abstract

The China Kadoorie Biobank (CKB) is a population-based prospective cohort of >512,000 adults recruited from 2004 to 2008 from 10 geographically diverse regions across China. Detailed data from questionnaires and physical measurements were collected at baseline, with additional measurements at three resurveys involving ∼5% of surviving participants. Analyses of genome-wide genotyping, for >100,000 participants using custom-designed Axiom arrays, reveal extensive relatedness, recent consanguinity, and signatures reflecting large-scale population movements from recent Chinese history. Systematic genome-wide association studies of incident disease, captured through electronic linkage to death and disease registries and to the national health insurance system, replicate established disease loci and identify 14 novel disease associations. Together with studies of candidate drug targets and disease risk factors and contributions to international genetics consortia, these demonstrate the breadth, depth, and quality of the CKB data. Ongoing high-throughput omics assays of collected biosamples and planned whole-genome sequencing will further enhance the scientific value of this biobank.

Keywords: GWAS; biobank; cardiovascular health; complex disease; genetic association studies; genetic epidemiology; genetics; genotyping; omics; prospective.

Abstract

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