"Are We There Yet?"

Deciding When One Has Demonstrated Specific Genetic Causation in Complex Diseases and Quantitative Traits

Grier P. Page, Varghese George, Rodney C. Go, Patricia Z. Page, David B. Allison

Research output: Contribution to journalEditorial

161 Citations (Scopus)

Abstract

Although mathematical relationships can be proven by deductive logic, biological relationships can only be inferred from empirical observations. This is a distinct disadvantage for those of us who strive to identify the genes involved in complex diseases and quantitative traits. If causation cannot be proven, however, what does constitute sufficient evidence for causation? The philosopher Karl Popper said, "Our belief in a hypothesis can have no stronger basis than our repeated unsuccessful critical attempts to refute it." We believe that to establish causation, as scientists, we must make a serious attempt to refute our own hypotheses and to eliminate all known sources of bias before association becomes causation. In addition, we suggest that investigators must provide sufficient data and evidence of their unsuccessful efforts to find any confounding biases. In this editorial, we discuss what "causation" means in the context of complex diseases and quantitative traits, and we suggest guidelines for steps that may be taken to address possible confounders of association before polymorphisms may be called "causative.".

Original languageEnglish (US)
Pages (from-to)711-719
Number of pages9
JournalAmerican Journal of Human Genetics
Volume73
Issue number4
DOIs
StatePublished - Oct 1 2003

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Causality
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ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

"Are We There Yet?" : Deciding When One Has Demonstrated Specific Genetic Causation in Complex Diseases and Quantitative Traits. / Page, Grier P.; George, Varghese; Go, Rodney C.; Page, Patricia Z.; Allison, David B.

In: American Journal of Human Genetics, Vol. 73, No. 4, 01.10.2003, p. 711-719.

Research output: Contribution to journalEditorial

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