Journal of Biological Chemistry
Volume 287, Issue 37, 7 September 2012, Pages 30932-30940
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Minireviews
Genome-wide Epigenetic Data Facilitate Understanding of Disease Susceptibility Association Studies*

https://doi.org/10.1074/jbc.R112.352427Get rights and content
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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.

Epigenetics
Gene Regulation
Genetic Diseases
Human Genetics
Molecular Genetics
Complex Trait
Genome-wide Association Study
Genotype-Phenotype Association

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*

This work was supported, in whole or in part, by National Institutes of Health Grants R01 DK065806, RC HG005573, and U01 HG004695. This is the sixth article in the Thematic Minireview Series on Results from the ENCODE Project: Integrative Global Analyses of Regulatory Regions in the Human Genome.