Systematic Localization of Common Disease-Associated Variation in Regulatory DNA-Reference-Cited by-同舟云学术

Systematic Localization of Common Disease-Associated Variation in Regulatory DNA

Published:2012-09-07 Issue:6099 Volume:337 Page:1190-1195
ISSN:0036-8075
Container-title:Science
language:en
Short-container-title:Science

Author:

Maurano Matthew T.¹,Humbert Richard¹,Rynes Eric¹,Thurman Robert E.¹,Haugen Eric¹,Wang Hao¹,Reynolds Alex P.¹,Sandstrom Richard¹,Qu Hongzhu¹²,Brody Jennifer³,Shafer Anthony¹,Neri Fidencio¹,Lee Kristen¹,Kutyavin Tanya¹,Stehling-Sun Sandra¹,Johnson Audra K.¹,Canfield Theresa K.¹,Giste Erika¹,Diegel Morgan¹,Bates Daniel¹,Hansen R. Scott⁴,Neph Shane¹,Sabo Peter J.¹,Heimfeld Shelly⁵,Raubitschek Antony⁶,Ziegler Steven⁶,Cotsapas Chris⁷⁸,Sotoodehnia Nona³⁹,Glass Ian¹⁰,Sunyaev Shamil R.¹¹,Kaul Rajinder⁴,Stamatoyannopoulos John A.¹¹²

Affiliation:

1. Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA.

2. Laboratory of Disease Genomics and Individualized Medicine, Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing, 100029, China.

3. Cardiovascular Health Research Unit, Department of Medicine, University of Washington, Seattle, WA 98195, USA.

4. Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, WA 98195, USA.

5. Clinical Research Division, Fred Hutchinson Cancer Research Center, Seattle, WA 98109, USA.

6. Immunology Program, Benaroya Research Institute, Seattle, WA 98101, USA.

7. Department of Neurology, Yale University School of Medicine, New Haven, CT 06520, USA.

8. Department of Genetics, Yale University School of Medicine, New Haven, CT 06520, USA.

9. Division of Cardiology, Department of Medicine, University of Washington, Seattle, WA 98195, USA.

10. Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.

11. Division of Genetics, Brigham and Women’s Hospital and Harvard Medical School, Boston, MA 02115, USA.

12. Department of Medicine, Division of Oncology, University of Washington, Seattle, WA 98195, USA.

Abstract

Predictions of Genetic Disease Many genome-wide association studies (GWAS) have identified loci and variants associated with disease, but the ability to predict disease on the basis of these genetic variants remains small. Maurano et al. (p. 1190 ; see the Perspective by

Schadt and Chang

; see the cover) characterize the location of GWAS variants in the genome with respect to their proximity to regulatory DNA [marked by deoxyribonuclease I (DNase I) hypersensitive sites] by tissue type, disease, and enrichments in physiologically relevant transcription factor binding sites and networks. They found many noncoding disease associations in regulatory DNA, indicating tissue and developmental-specific regulatory roles for many common genetic variants and thus enabling links to be made between gene regulation and adult-onset disease.

Publisher

American Association for the Advancement of Science (AAAS)

Subject

Multidisciplinary

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