Smith Blair H, Campbell Harry, Blackwood Douglas, Connell John, Connor Mike, Deary Ian J, Dominiczak Anna F, Fitzpatrick Bridie, Ford Ian, Jackson Cathy, Haddow Gillian, Kerr Shona, Lindsay Robert, McGilchrist Mark, Morton Robin, Murray Graeme, Palmer Colin N A, Pell Jill P, Ralston Stuart H, St Clair David, Sullivan Frank, Watt Graham, Wolf Roland, Wright Alan, Porteous David, Morris Andrew D
University of Aberdeen, Department of General Practice and Primary Care, Foresterhill Health Centre, Westburn Road, Aberdeen, UK.
BMC Med Genet. 2006 Oct 2;7:74. doi: 10.1186/1471-2350-7-74.
Generation Scotland: the Scottish Family Health Study aims to identify genetic variants accounting for variation in levels of quantitative traits underlying the major common complex diseases (such as cardiovascular disease, cognitive decline, mental illness) in Scotland.
METHODS/DESIGN: Generation Scotland will recruit a family-based cohort of up to 50,000 individuals (comprising siblings and parent-offspring groups) across Scotland. It will be a six-year programme, beginning in Glasgow and Tayside in the first two years (Phase 1) before extending to other parts of Scotland in the remaining four years (Phase 2). In Phase 1, individuals aged between 35 and 55 years, living in the East and West of Scotland will be invited to participate, along with at least one (and preferably more) siblings and any other first degree relatives aged 18 or over. The total initial sample size will be 15,000 and it is planned that this will increase to 50,000 in Phase 2. All participants will be asked to contribute blood samples from which DNA will be extracted and stored for future investigation. The information from the DNA, along with answers to a life-style and medical history questionnaire, clinical and biochemical measurements taken at the time of donation, and subsequent health developments over the life course (traced through electronic health records) will be stored and used for research purposes. In addition, a detailed public consultation process will begin that will allow respondents' views to shape and develop the study. This is an important aspect to the research, and forms the continuation of a long-term parallel engagement process.
As well as gene identification, the family-based study design will allow measurement of the heritability and familial aggregation of relevant quantitative traits, and the study of how genetic effects may vary by parent-of-origin. Long-term potential outcomes of this research include the targeting of disease prevention and treatment, and the development of screening tools based on the new genetic information. This study approach is complementary to other population-based genetic epidemiology studies, such as UK Biobank, which are established primarily to characterise genes and genetic risk in the population.
“苏格兰世代研究：苏格兰家庭健康研究”旨在确定导致苏格兰主要常见复杂疾病（如心血管疾病、认知衰退、精神疾病）潜在数量性状水平变异的基因变体。
方法/设计：“苏格兰世代研究”将在苏格兰招募一个基于家庭的队列，人数最多达50000人（包括兄弟姐妹组和亲子组）。这将是一个为期六年的项目，前两年（第一阶段）在格拉斯哥和泰赛德启动，之后在剩余四年（第二阶段）扩展至苏格兰其他地区。在第一阶段，将邀请居住在苏格兰东部和西部、年龄在35至55岁之间的个人参与，同时邀请至少一名（最好更多）兄弟姐妹以及任何其他18岁及以上的一级亲属。初始样本总量将为15000人，计划在第二阶段增至50000人。所有参与者都将被要求提供血样，从中提取DNA并储存以备未来研究之用。DNA信息、生活方式和病史问卷的答案、献血时进行的临床和生化测量结果以及后续生命历程中的健康发展情况（通过电子健康记录追踪）都将被储存并用于研究目的。此外，将启动一个详细的公众咨询过程，让受访者的意见影响并推动研究。这是该研究的一个重要方面，也是长期并行参与过程的延续。
除了基因识别，基于家庭的研究设计将能够测量相关数量性状的遗传力和家族聚集性，并研究遗传效应如何因亲本来源而异。这项研究的长期潜在成果包括疾病预防和治疗的靶向目标，以及基于新遗传信息开发筛查工具。这种研究方法是对其他基于人群的遗传流行病学研究（如英国生物银行）的补充，后者主要是为了描述人群中的基因和遗传风险而设立的。
