Post-genome respiratory epidemiology: a multidisciplinary challenge

F Kauffmann, J Anto, M P Baur, H Bickeboller, D Clayton, W O C Cookson, F Demenais, Peter Joseph Benedict Helms, I. Humphery-Smith, S Imbeaud, F Kauffmann, B M Knoppers, M Lathrop, Julian Little, Nicola Jane Pearce, D Schaid, E Silverman, S Weiss, M Wjst, Post Genome Respiratory Epidemiol

Research output: Contribution to journalLiterature reviewpeer-review

24 Citations (Scopus)


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
Pages (from-to)471-480
Number of pages10
JournalEuropean Respiratory Journal
Issue number3
Publication statusPublished - Sept 2004


  • epidemiology
  • ethics
  • genetic epidemiology
  • genome lung diseases
  • obstructive pulmonary disease
  • single nucleotide polymorphisms
  • air flow obstruction
  • population stratification
  • environment interaction
  • linkage disequilibrium
  • genetic polymorphism
  • positional cloning
  • chronic bronchitis
  • lung function


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