Department of Clinical Immunology, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.
Novo Nordisk Foundation Center for Protein Research, University of Copenhagen, Copenhagen, Denmark
BMJ Open. 2021 Dec 30;11(12):e049709. doi: 10.1136/bmjopen-2021-049709.
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.
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.
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.
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.
哥本哈根医院生物库-心血管疾病队列（CHB-CVDC）的目的是建立一个队列，通过共同研究遗传学、诊断、治疗和危险因素，加速我们对心血管疾病发病和进展的理解。
CHB-CVDC 是一个患有心血管疾病的患者的大型基因组队列。CHB-CVDC 目前包括 96308 名患者。该队列是 2009 年在丹麦首都地区启动的 CHB 的一部分。CHB 正在不断壮大，每年约有 40000 个样本。如果患者年龄在 18 岁以上且至少有一个心血管诊断，则被纳入 CHB-CVDC。此外，多达 110000 名献血者可以与 CHB-CVDC 一起进行分析。与丹麦国家健康登记处、电子患者记录和临床质量数据库的链接允许进行长达 41 年的病史。所有个体都使用 Illumina 的 Infinium Global Screening Array 进行基因分型，并使用由 8429 名丹麦人全基因组序列数据以及来自西北欧的 7146 个样本组成的参考面板进行 imputation。目前，39539 名患者已死亡。
在这里，我们通过显示已知变体与选定的 CVD 之间一致的效应来证明该队列的实用性，即对于冠状动脉疾病、心房颤动、心力衰竭和胆固醇测量，一致性超过 93%，而对于高血压，一致性为 85%。此外，我们评估了多种研究设计和使用丹麦献血者作为 CHB-CVDC 一部分的有效性。最后，CHB-CVDC 已经为研究病态窦房结综合征和植物固醇在动脉粥样硬化发展中的作用做出了重大贡献。
除了遗传学，电子患者记录、国家社会经济和健康登记处还广泛描述了 CHB-CVDC 中的每位患者的特征，并为更好地理解风险和保护变体提供了一个有前途的框架。我们的目标是将其他可测量的生物标志物（例如蛋白质）纳入 CHB-CVDC，使其成为多组学心血管研究的平台。
