Scientific Publications

Pleiotropy in complex traits: challenges and strategies.

Publication TypeJournal Article
AuthorsSolovieff, N., Cotsapas C., Lee PH, Purcell SM, and Smoller JW
AbstractGenome-wide association studies have identified many variants that each affects multiple traits, particularly across autoimmune diseases, cancers and neuropsychiatric disorders, suggesting that pleiotropic effects on human complex traits may be widespread. However, systematic detection of such effects is challenging and requires new methodologies and frameworks for interpreting cross-phenotype results. In this Review, we discuss the evidence for pleiotropy in contemporary genetic mapping studies, new and established analytical approaches to identifying pleiotropic effects, sources of spurious cross-phenotype effects and study design considerations. We also outline the molecular and clinical implications of such findings and discuss future directions of research.
Year of Publication2013
JournalNature reviews. Genetics
Date Published (YYYY/MM/DD)2013/07/01
ISSN Number1471-0056