A platform for the remote conduct of gene-environment interaction studies

John Gallacher, Rory Collins, Paul Elliott, Stephen Palmer, Paul Burton, Clive Mitchell, Gareth John, Ronan Lyons

Research output: Contribution to journalArticle (Academic Journal)peer-review

9 Citations (Scopus)


BACKGROUND: 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.

AIM: To develop a platform for the remote conduct of gene-environment interaction studies.

METHODS: 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.

RESULTS: 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.

CONCLUSION: 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.

Original languageEnglish
Pages (from-to)e54331
JournalPLoS ONE
Issue number1
Publication statusPublished - 2013


  • Aged
  • Aged, 80 and over
  • Aging
  • Blood Specimen Collection
  • Cognition
  • Data Collection
  • Female
  • Gene-Environment Interaction
  • Humans
  • Intelligence
  • Internet
  • Male
  • Memory, Short-Term
  • Middle Aged
  • Questionnaires
  • Reproducibility of Results
  • Wales

Fingerprint Dive into the research topics of 'A platform for the remote conduct of gene-environment interaction studies'. Together they form a unique fingerprint.

Cite this