Institute of Primary Care and Public Health, Cardiff University, Cardiff, United Kingdom.
PLoS One. 2013;8(1):e54331. doi: 10.1371/journal.pone.0054331. Epub 2013 Jan 18.
Gene-environment interaction studies offer the prospect of robust causal inference through both gene identification and instrumental variable approaches. As such they are a major and much needed development. However, conducting these studies using traditional methods, which require direct participant contact, is resource intensive. The ability to conduct gene-environment interaction studies remotely would reduce costs and increase capacity.
To develop a platform for the remote conduct of gene-environment interaction studies.
A random sample of 15,000 men and women aged 50+ years and living in Cardiff, South Wales, of whom 6,012 were estimated to have internet connectivity, were mailed inviting them to visit a web-site to join a study of successful ageing. Online consent was obtained for questionnaire completion, cognitive testing, re-contact, record linkage and genotyping. Cognitive testing was conducted using the Cardiff Cognitive Battery. Bio-sampling was randomised to blood spot, buccal cell or no request.
A heterogeneous sample of 663 (4.5% of mailed sample and 11% of internet connected sample) men and women (47% female) aged 50-87 years (median=61 yrs) from diverse backgrounds (representing the full range of deprivation scores) was recruited. Bio-samples were donated by 70% of those agreeing to do so. Self report questionnaires and cognitive tests showed comparable distributions to those collected using face-to-face methods. Record linkage was achieved for 99.9% of participants.
This study has demonstrated that remote methods are suitable for the conduct of gene-environment interaction studies. Up-scaling these methods provides the opportunity to increase capacity for large-scale gene-environment interaction studies.
基因-环境交互作用研究通过基因识别和工具变量方法提供了稳健因果推断的前景。因此，它们是一个重大的、非常需要的发展。然而，使用需要直接与参与者联系的传统方法进行这些研究需要大量资源。远程进行基因-环境交互作用研究的能力将降低成本并提高容量。
开发一个远程进行基因-环境交互作用研究的平台。
对居住在威尔士卡迪夫的 15000 名 50 岁以上的男性和女性进行随机抽样，其中 6012 人估计有互联网连接，向他们邮寄邀请他们访问一个网站，以参加一项成功老龄化研究。在线同意完成问卷调查、认知测试、重新联系、记录链接和基因分型。认知测试使用加的夫认知电池进行。生物样本采集随机分配为血斑、口腔细胞或不要求。
从不同背景（代表贫困程度的全部范围）招募了 663 名（邮寄样本的 4.5%和互联网连接样本的 11%）年龄在 50-87 岁（中位数=61 岁）的男性和女性（47%为女性）的异质样本。同意这样做的人中，有 70%的人捐献了生物样本。自我报告问卷和认知测试的分布与面对面方法收集的分布相似。记录链接已实现 99.9%的参与者。
这项研究表明，远程方法适用于进行基因-环境交互作用研究。扩大这些方法的规模为进行大规模基因-环境交互作用研究提供了机会。
