TY - JOUR
T1 - 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
AU - Laursen, Ina H.
AU - Banasik, Karina
AU - Haue, Amalie D.
AU - Petersen, Oscar
AU - Holm, Peter C.
AU - Westergaard, David
AU - Bundgaard, Henning
AU - Brunak, Soren
AU - Frikke-Schmidt, Ruth
AU - Holm, Hilma
AU - Sorensen, Erik
AU - Thorner, Lise W.
AU - Larsen, Margit A. H.
AU - Schwinn, Michael
AU - Kober, Lars
AU - Torp-Pedersen, Christian
AU - Ostrowski, Sisse R.
AU - Erikstrup, Christian
AU - Nyegaard, Mette
AU - Stefansson, Hreinn
AU - Gylfason, Arnaldur
AU - Zink, Florian
AU - Walters, G. Bragi
AU - Oddsson, Asmundur
AU - Thorleifsson, Guomar
AU - Masson, Gisli
AU - Thorsteinsdottir, Unnur
AU - Gudbjartsson, Daniel
AU - Pedersen, Ole B.
AU - Stefansson, Kari
AU - Ullum, Henrik
N1 - © Author(s) (or their employer(s)) 2021. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.
PY - 2021/12/30
Y1 - 2021/12/30
N2 - 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.
AB - 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.
KW - Biological Specimen Banks
KW - Cardiovascular Diseases/epidemiology
KW - Cohort Studies
KW - Heart Diseases
KW - Hospitals
KW - Humans
U2 - 10.1136/bmjopen-2021-049709
DO - 10.1136/bmjopen-2021-049709
M3 - Article
C2 - 36070241
SN - 2044-6055
VL - 11
SP - e049709
JO - BMJ open
JF - BMJ open
IS - 12
M1 - e049709
ER -