From DNA to RNA to disease and back: The 'central dogma' of regulatory disease variation

Barbara Elaine Stranger*, Emmanouil T. Dermitzakis

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

20 Scopus citations


Much of the focus of human disease genetics is directed towards identifying nucleotide variants that contribute to disease phenotypes. This is a complex problem, often involving contributions from multiple loci and their interactions, as well as effects due to environmental factors. Although some diseases with a genetic basis are caused by nucleotide changes that alter an amino acid sequence, in other cases, disease risk is associated with altered gene regulation. This paper focuses on how studies of gene expression variation might complement disease studies and provide crucial links between genotype and phenotype.

Original languageEnglish (US)
Pages (from-to)383-390
Number of pages8
JournalHuman genomics
Issue number6
StatePublished - Jun 2006


  • Association mapping
  • Gene expression
  • Human disease
  • Linkage mapping

ASJC Scopus subject areas

  • Drug Discovery
  • Genetics
  • Molecular Medicine
  • Molecular Biology


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