The genetics of regulatory variation in the human genome

Barbara Elaine Stranger*, Emmanouil T. Dermitzakis

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

20 Scopus citations


The regulation of gene expression plays an important role in complex phenotypes, including disease in humans. For some genes, the genetic mechanisms influencing gene expression are well elucidated; however, it is unclear how applicable these results are to gene expression on a genome-wide level. Studies in model organisms and humans have clearly documented gene expression variation among individuals and shown that a significant proportion of this variation has a genetic basis. Recent studies combine microarray surveys of gene expression for thousands of genes with dense marker maps, and are beginning to identify regions in the human genome that have functional effects on gene expression. This paper reviews recent developments and methodologies in this field, and discusses implications and future directions of this research in the context of understanding the influence of human genomic variation on the regulation of gene expression.

Original languageEnglish (US)
Pages (from-to)126-131
Number of pages6
JournalHuman genomics
Issue number2
StatePublished - Jun 2005


  • Association mapping
  • Gene expression
  • Linkage mapping
  • Regulatory variation

ASJC Scopus subject areas

  • Molecular Medicine
  • Molecular Biology
  • Genetics
  • Drug Discovery


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