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. 2021 Dec 30;11(12):e049709.
doi: 10.1136/bmjopen-2021-049709.

Cohort profile: Copenhagen Hospital Biobank - Cardiovascular Disease Cohort (CHB-CVDC): Construction of a large-scale genetic cohort to facilitate a better understanding of heart diseases

Ina H Laursen  1 , Karina Banasik  2 , Amalie D Haue  3 , Oscar Petersen  1 , Peter C Holm  3 , David Westergaard  3 , Henning Bundgaard  4   5 , Søren Brunak  3 , Ruth Frikke-Schmidt  5   6 , Hilma Holm  7 , Erik Sørensen  1 , Lise W Thørner  1 , Margit A H Larsen  1 , Michael Schwinn  1 , Lars Køber  4   5 , Christian Torp-Pedersen  8 , Sisse R Ostrowski  1   5 , Christian Erikstrup  9 , Mette Nyegaard  10 , Hreinn Stefánsson  7 , Arnaldur Gylfason  7 , Florian Zink  7 , G Bragi Walters  7   11 , Asmundur Oddsson  7 , Guðmar Þorleifsson  7 , Gisli Másson  7 , Unnur Thorsteinsdottir  7   11 , Daniel Gudbjartsson  7   12 , Ole B Pedersen  13 , Kári Stefánsson  7   11 , Henrik Ullum  1   5
Affiliations

Cohort profile: Copenhagen Hospital Biobank - Cardiovascular Disease Cohort (CHB-CVDC): Construction of a large-scale genetic cohort to facilitate a better understanding of heart diseases

Ina H Laursen et al. BMJ Open. .

Abstract

Purpose: The aim of Copenhagen Hospital Biobank-Cardiovascular Disease Cohort (CHB-CVDC) is to establish a cohort that can accelerate our understanding of CVD initiation and progression by jointly studying genetics, diagnoses, treatments and risk factors.

Participants: The CHB-CVDC is a large genomic cohort of patients with CVD. CHB-CVDC currently includes 96 308 patients. The cohort is part of CHB initiated in 2009 in the Capital Region of Denmark. CHB is continuously growing with ~40 000 samples/year. Patients in CHB were included in CHB-CVDC if they were above 18 years of age and assigned at least one cardiovascular diagnosis. Additionally, up-to 110 000 blood donors can be analysed jointly with CHB-CVDC. Linkage with the Danish National Health Registries, Electronic Patient Records, and Clinical Quality Databases allow up-to 41 years of medical history. All individuals are genotyped using the Infinium Global Screening Array from Illumina and imputed using a reference panel consisting of whole-genome sequence data from 8429 Danes along with 7146 samples from North-Western Europe. Currently, 39 539 of the patients are deceased.

Findings to date: Here, we demonstrate the utility of the cohort by showing concordant effects between known variants and selected CVDs, that is, >93% concordance for coronary artery disease, atrial fibrillation, heart failure and cholesterol measurements and 85% concordance for hypertension. Furthermore, we evaluated multiple study designs and the validity of using Danish blood donors as part of CHB-CVDC. Lastly, CHB-CVDC has already made major contributions to studies of sick sinus syndrome and the role of phytosterols in development of atherosclerosis.

Future plans: In addition to genetics, electronic patient records, national socioeconomic and health registries extensively characterise each patient in CHB-CVDC and provides a promising framework for improved understanding of risk and protective variants. We aim to include other measurable biomarkers for example, proteins in CHB-CVDC making it a platform for multiomics cardiovascular studies.

Keywords: cardiology; epidemiology; genetics.

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Conflict of interest statement

Competing interests: The authors affiliated with deCODE genetics/Amgen are employed by the company.

Figures

Figure 1
Figure 1
Comparison of effect sizes and reference effect sizes. The effect sizes weighted by risk allele frequency of the reference study (X-axis) are compared with the effect sizes weighted by the risk allele frequency from this study (y-axis). The dotted lines correspond to a correlation of 1 and the dense lines to the observed trendlines.
See this image and copyright information in PMC

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