Post-genome respiratory epidemiology: A multidisciplinary challenge

F. Kauffmann, J. Anto, M. P. Baur, H. Bickeboller, D. Clayton, W. O.C. Cookson, F. Demenais, P. J. Helms, I. Humphery-Smith, S. Imbeaud, B. M. Knoppers, M. Lathrop, J. Little, N. Pearce, D. Schaid, E. Silverman, S. Weiss, M. Wjst

Research output: Contribution to journalReview articlepeer-review

23 Scopus citations


The introduction of genetic approaches in respiratory epidemiology is novel for most epidemiologists, and the post-genome phase poses new challenges. After describing specific questions pertinent to the field of asthma and chronic obstructive pulmonary disease, two main methodological aspects regarding technological and scientific advances are presented in this review. The first one concerns biological aspects in the genome and post-genome phases, i.e. how to study the genome, the transcriptome and the proteome. The second area concerns genetic epidemiology, considering design (case control and family based) and statistical analytical issues. Key aspects are large sample size, good phenotyping and the consideration of environment-by-gene interaction according to windows of opportunity. Needs that have been identified include the following. 1) Networking for setting standards in the field and access to sufficiently large samples. 2) Multidisciplinarity; the collaboration of epidemiologists, clinicians, geneticists and specialists in bioinformatics in addition to specialists in disciplines less familiar to epidemiologists, to be prepared for new phenotypic characterisations based on transcriptome and proteome. 3) Training in genetic analytical techniques for some respiratory epidemiologists, as well as in respiratory epidemiology for some genetic epidemiologists. Implications for research, considering ethical aspects, public health aspects and organisational aspects in the field of genetic and environmental respiratory epidemiology also need to be addressed.

Original languageEnglish (US)
Pages (from-to)471-480
Number of pages10
JournalEuropean Respiratory Journal
Issue number3
StatePublished - Sep 2004


  • Epidemiology
  • Ethics
  • Genetic epidemiology
  • Genome
  • Lung diseases

ASJC Scopus subject areas

  • Pulmonary and Respiratory Medicine


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