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J Biol Chem. 2012 Sep 7;287(37):30932-40. doi: 10.1074/jbc.R112.352427. Epub 2012 Sep 5.

Genome-wide epigenetic data facilitate understanding of disease susceptibility association studies.

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Department of Biochemistry and Molecular Biology and Center for Comparative Genomics and Bioinformatics, Huck Institutes of the Life Sciences, The Pennsylvania State University, University Park, Pennsylvania 16801, USA.


Complex traits such as susceptibility to diseases are determined in part by variants at multiple genetic loci. Genome-wide association studies can identify these loci, but most phenotype-associated variants lie distal to protein-coding regions and are likely involved in regulating gene expression. Understanding how these genetic variants affect complex traits depends on the ability to predict and test the function of the genomic elements harboring them. Community efforts such as the ENCODE Project provide a wealth of data about epigenetic features associated with gene regulation. These data enable the prediction of testable functions for many phenotype-associated variants.

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