Genetic modifiers and oligogenic inheritance

Maria Kousi, Elias Nicholas Katsanis*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

76 Scopus citations


Despite remarkable progress in the identification of mutations that drive genetic disorders, progress in understanding the effect of genetic background on the penetrance and expressivity of causal alleles has been modest, in part because of the methodological challenges in identifying genetic modifiers. Nonetheless, the progressive discovery of modifier alleles has improved both our interpretative ability and our analytical tools to dissect such phenomena. In this review, we analyze the genetic properties and behaviors of modifiers as derived from studies in patient populations and model organisms and we highlight conceptual and technological tools used to overcome some of the challenges inherent in modifier mapping and cloning. Finally, we discuss how the identification of these modifiers has facilitated the elucidation of biological pathways and holds the potential to improve the clinical predictive value of primary causal mutations and to develop novel drug targets.

Original languageEnglish (US)
Pages (from-to)1-22
Number of pages22
JournalCold Spring Harbor Perspectives in Medicine
Issue number6
StatePublished - Jun 1 2015

ASJC Scopus subject areas

  • General Biochemistry, Genetics and Molecular Biology


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