Systematic localization of common disease-associated variation in regulatory DNA.

doi:10.1126/science.1222794

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Article

Systematic localization of common disease-associated variation in regulatory DNA.

Science (New York, N.Y.) - 7 Sept 2012

Maurano Matthew T, Humbert Richard, Rynes Eric, Thurman Robert E, Haugen Eric, Wang Hao, Reynolds Alex P, Sandstrom Richard, Qu Hongzhu, Brody Jennifer, Shafer Anthony, Neri Fidencio, Lee Kristen, Kutyavin Tanya, Stehling-Sun Sandra, Johnson Audra K, Canfield Theresa K, Giste Erika, Diegel Morgan, Bates Daniel, Hansen R Scott, Neph Shane, Sabo Peter J, Heimfeld Shelly, Raubitschek Antony, Ziegler Steven, Cotsapas Chris, Sotoodehnia Nona, Glass Ian, Sunyaev Shamil R, Kaul Rajinder, Stamatoyannopoulos John A

Abstract excerpt

Genome-wide association studies have identified many noncoding variants associated with common diseases and traits. We show that these variants are concentrated in regulatory DNA marked by deoxyribonuclease I (DNase I) hypersensitive sites (DHSs). Eighty-eight percent of such DHSs are active during fetal development and are enriched in variants associated with gestational exposure-related phenotypes. We...

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PMID: 22955828
DOI: 10.1126/science.1222794
PMCID: PMC3771521

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