Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden
Uppsala Clinical Research Center, Uppsala University, Uppsala, Sweden.
BMJ Open. 2022 May 10;12(5):e055557. doi: 10.1136/bmjopen-2021-055557.
The rationale behind the SUDden cardiac Death in the Young (SUDDY) cohort was to provide a complete nationwide, high-quality platform with integrated multisource data, for clinical and genetic research on sudden cardiac death (SCD) in the young, with the ultimate goal to predict and prevent SCD.
The cohort contains all SCD victims <36 years, in Sweden during the period 2000-2010. We assigned five population-based controls per case, together with parents of cases and controls, in total 15 633 individuals. Data of all individuals were extracted from multiple mandatory registries; the National Patient Registry, the Medical Birth Registry, the Prescribed Drug registry, the Cause of Death registry, the Multigeneration Registry, combined with socioeconomic data from Statistics Sweden. From SCD victims, the autopsy report, medical records, ECGs, parental information and biological samples were gathered.
We identified 903 individuals diagnosed with SCD (67% men, 33% women). The cases comprised 236 infants <1 year of age (26%), 90 individuals aged 1-15 years (10%), 186 individuals aged 15-25 years (21%) and 391 aged 25-35 years (43%). Hospitalisations and outpatient clinic visits due to syncope were significantly more common among cases than controls. DNA obtained from dried blood spots tests (DBS) stored from birth was equally suitable as venous blood samples for high-throughput genetic analysis of SCD cases.
We will explore the SUDDY cohort for symptoms and healthcare consumption, socioeconomic variables and family history of SCD. Furthermore, we will perform whole exome sequencing analysis on DNA of cases obtained from DBS or postmortem samples together with parental blood samples in search for gene variants associated with cardiac disease. The genetic analysis together with data compiled in the nationwide cohort is expected to improve current knowledge on the incidence, aetiology, clinical characteristics and family history of SCD.
SUDden cardiac Death in the Young (SUDDY) 队列的基本原理是提供一个完整的全国性、高质量的平台，整合多源数据，用于研究年轻人心脏性猝死 (SCD) 的临床和遗传，最终目标是预测和预防 SCD。
该队列包含了所有 2000-2010 年期间在瑞典死于 SCD 的<36 岁的患者。我们按照每例患者分配 5 例基于人群的对照，同时包括患者和对照的父母，共 15633 人。所有个体的数据均从多个强制性登记处提取；国家患者登记处、医疗出生登记处、处方药物登记处、死因登记处、多代人登记处，结合瑞典统计局的社会经济数据。从 SCD 患者中收集了尸检报告、病历、心电图、父母信息和生物样本。
我们确定了 903 名诊断为 SCD 的患者（67%为男性，33%为女性）。这些患者中，236 例为 1 岁以下婴儿（26%），90 例为 1-15 岁（10%），186 例为 15-25 岁（21%），391 例为 25-35 岁（43%）。与对照组相比，病例组因晕厥住院和门诊就诊的情况明显更为常见。从出生时储存的干血斑测试 (DBS) 中获得的 DNA 同样适用于 SCD 病例的高通量基因分析，与静脉血样本相当。
我们将探索 SUDDY 队列中与 SCD 相关的症状和医疗保健消费、社会经济变量以及家族史。此外，我们将对来自 DBS 或尸检样本的病例 DNA 进行全外显子测序分析，同时对父母的血液样本进行分析，以寻找与心脏疾病相关的基因变异。这项遗传分析与全国性队列中收集的数据相结合，有望提高人们对 SCD 的发病率、病因、临床特征和家族史的认识。
