An Expanded View of Complex Traits: From Polygenic to Omnigenic

TitleAn Expanded View of Complex Traits: From Polygenic to Omnigenic
Publication TypeJournal Article
Year of Publication2017
AuthorsBoyle, EA, Li, YI, Pritchard, JK
JournalCell
Volume169
Issue7
Pagination1177-1186
ISSN Number00928674
KeywordsGenetics, GWAS, PGS
Abstract

A central goal of genetics is to understand the links between genetic variation and disease. Intuitively, one might expect disease-causing variants to cluster into key pathways that drive disease etiology. But for complex traits, association signals tend to be spread across most of the genome—including near many genes without an obvious connection to disease. We propose that gene regulatory networks are sufficiently interconnected such that all genes expressed in disease-relevant cells are liable to affect the functions of core disease-related genes and that most heritability can be explained by effects on genes outside core pathways. We refer to this hypothesis as an “omnigenic” model.

URLhttp://linkinghub.elsevier.com/retrieve/pii/S0092867417306293http://api.elsevier.com/content/article/PII:S0092867417306293?httpAccept=text/xmlhttp://api.elsevier.com/content/article/PII:S0092867417306293?httpAccept=text/plain
DOI10.1016/j.cell.2017.05.038
Short TitleCell
Citation Key9445