Pleiotropy in complex traits: challenges and strategies.
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Abstract | Genome-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 Publication | 2013
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Journal | Nat Rev Genet
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Volume | 14
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Issue | 7
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Pages | 483-95
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Date Published | 2013 Jul
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ISSN | 1471-0064
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URL | |
DOI | 10.1038/nrg3461
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PubMed ID | 23752797
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PubMed Central ID | PMC4104202
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Grant list | K24 MH094614 / MH / NIMH NIH HHS / United States
R01 MH079799 / MH / NIMH NIH HHS / United States
K24MH094614 / MH / NIMH NIH HHS / United States
R01‑MH079799 / MH / NIMH NIH HHS / United States
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