From Loci to Biology Functional Genomics of Genome-Wide Association for Coronary Disease

被引：48

作者：

Nurnberg, Sylvia T. ^{[1
]}

Zhang, Hanrui ^{[2
]}

Hand, Nicholas J. ^{[3
]}

Bauer, Robert C. ^{[1
]}

Saleheen, Danish ^{[4
]}

Reilly, Muredach P. ^{[2
]}

Rader, Daniel J. ^{[1
,2
,3
]}

机构：

[1] Univ Penn, Perelman Sch Med, Dept Med, Div Translat Med & Human Genet, Philadelphia, PA 19104 USA

[2] Univ Penn, Perelman Sch Med, Dept Med, Penn Cardiovasc Inst, Philadelphia, PA 19104 USA

[3] Univ Penn, Perelman Sch Med, Dept Genet, Philadelphia, PA 19104 USA

[4] Univ Penn, Perelman Sch Med, Dept Biostat & Epidemiol, Philadelphia, PA 19104 USA

来源：

CIRCULATION RESEARCH | 2016年 / 118卷 / 04期

关键词：

atherosclerosis; genomics; coronary artery disease; genome-wide; functional; LYSOSOMAL ACID LIPASE; LONG NONCODING RNA; REGULATES HEPATIC LIPOGENESIS; LOW-DENSITY-LIPOPROTEIN; INTIMA-MEDIA THICKNESS; MUSCLE-CELL MIGRATION; ESTER STORAGE DISEASE; ONE-STEP GENERATION; ARTERY-DISEASE; MYOCARDIAL-INFARCTION;

D O I：

10.1161/CIRCRESAHA.115.306464

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Genome-wide association studies have provided a rich collection of approximate to 58 coronary artery disease (CAD) loci that suggest the existence of previously unsuspected new biology relevant to atherosclerosis. However, these studies only identify genomic loci associated with CAD, and many questions remain even after a genomic locus is definitively implicated, including the nature of the causal variant(s) and the causal gene(s), as well as the directionality of effect. There are several tools that can be used for investigation of the functional genomics of these loci, and progress has been made on a limited number of novel CAD loci. New biology regarding atherosclerosis and CAD will be learned through the functional genomics of these loci, and the hope is that at least some of these new pathways relevant to CAD pathogenesis will yield new therapeutic targets for the prevention and treatment of CAD.

引用

页码：586 / 606

页数：21

共 205 条

[121] Coronary Heart Disease-Associated Variation in TCF21 Disrupts a miR-224 Binding Site and miRNA-Mediated Regulation [J].

Miller, Clint L. ;

Haas, Ulrike ;

Diaz, Roxanne ;

Leeper, Nicholas J. ;

Kundu, Ramendra K. ;

Patlolla, Bhagat ;

Assimes, Themistocles L. ;

Kaiser, Frank J. ;

Perisic, Ljubica ;

Hedin, Ulf ;

Maegdefessel, Lars ;

Schunkert, Heribert ;

Erdmann, Jeanette ;

Quertermous, Thomas ;

Sczakiel, Georg .

PLOS GENETICS, 2014, 10 (03)

[122] Disease-Related Growth Factor and Embryonic Signaling Pathways Modulate an Enhancer of TCF21 Expression at the 6q23.2 Coronary Heart Disease Locus [J].

Miller, Clint L. ;

Anderson, D. Ryan ;

Kundu, Ramendra K. ;

Raiesdana, Azad ;

Nuernberg, Sylvia T. ;

Diaz, Roxanne ;

Cheng, Karen ;

Leeper, Nicholas J. ;

Chen, Chung-Hsing ;

Chang, I-Shou ;

Schadt, Eric E. ;

Hsiung, Chao Agnes ;

Assimes, Themistocles L. ;

Quertermous, Thomas .

PLOS GENETICS, 2013, 9 (07)

[123] Isolation of single-base genome-edited human iPS cells without antibiotic selection [J].

Miyaoka, Yuichiro ;

Chan, Amanda H. ;

Judge, Luke M. ;

Yoo, Jennie ;

Huang, Miller ;

Nguyen, Trieu D. ;

Lizarraga, Paweena P. ;

So, Po-Lin ;

Conklin, Bruce R. .

NATURE METHODS, 2014, 11 (03) :291-U345

[124] Slicer function of Drosophila Argonautes and its involvement in RISC formation [J].

Miyoshi, K ;

Tsukumo, H ;

Nagami, T ;

Siomi, H ;

Siomi, MC .

GENES & DEVELOPMENT, 2005, 19 (23) :2837-2848

[125] Mechanisms of disease - Thrombotic microangiopathies [J].

Moake, JL .

NEW ENGLAND JOURNAL OF MEDICINE, 2002, 347 (08) :589-600

[126] Alleviation of off-target effects from vector-encoded shRNAs via codelivered RNA decoys [J].

Mockenhaupt, Stefan ;

Grosse, Stefanie ;

Rupp, Daniel ;

Bartenschlager, Ralf ;

Grimm, Dirk .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2015, 112 (30) :E4007-E4016

[127] Transcriptome genetics using second generation sequencing in a Caucasian population [J].

Montgomery, Stephen B. ;

Sammeth, Micha ;

Gutierrez-Arcelus, Maria ;

Lach, Radoslaw P. ;

Ingle, Catherine ;

Nisbett, James ;

Guigo, Roderic ;

Dermitzakis, Emmanouil T. .

NATURE, 2010, 464 (7289) :773-U151

[128] The rise of regulatory RNA [J].

Morris, Kevin V. ;

Mattick, John S. .

NATURE REVIEWS GENETICS, 2014, 15 (06) :423-437

[129] From noncoding variant to phenotype via SORT1 at the 1p13 cholesterol locus [J].

Musunuru, Kiran ;

Strong, Alanna ;

Frank-Kamenetsky, Maria ;

Lee, Noemi E. ;

Ahfeldt, Tim ;

Sachs, Katherine V. ;

Li, Xiaoyu ;

Li, Hui ;

Kuperwasser, Nicolas ;

Ruda, Vera M. ;

Pirruccello, James P. ;

Muchmore, Brian ;

Prokunina-Olsson, Ludmila ;

Hall, Jennifer L. ;

Schadt, Eric E. ;

Morales, Carlos R. ;

Lund-Katz, Sissel ;

Phillips, Michael C. ;

Wong, Jamie ;

Cantley, William ;

Racie, Timothy ;

Ejebe, Kenechi G. ;

Orho-Melander, Marju ;

Melander, Olle ;

Koteliansky, Victor ;

Fitzgerald, Kevin ;

Krauss, Ronald M. ;

Cowan, Chad A. ;

Kathiresan, Sekar ;

Rader, Daniel J. .

NATURE, 2010, 466 (7307) :714-U2

[130] A User's Guide to the Encyclopedia of DNA Elements (ENCODE) [J].

Myers, Richard M. ;

Stamatoyannopoulos, John ;

Snyder, Michael ;

Dunham, Ian ;

Hardison, Ross C. ;

Bernstein, Bradley E. ;

Gingeras, Thomas R. ;

Kent, W. James ;

Birney, Ewan ;

Wold, Barbara ;

Crawford, Gregory E. ;

Bernstein, Bradley E. ;

Epstein, Charles B. ;

Shoresh, Noam ;

Ernst, Jason ;

Mikkelsen, Tarjei S. ;

Kheradpour, Pouya ;

Zhang, Xiaolan ;

Wang, Li ;

Issner, Robbyn ;

Coyne, Michael J. ;

Durham, Timothy ;

Ku, Manching ;

Thanh Truong ;

Ward, Lucas D. ;

Altshuler, Robert C. ;

Lin, Michael F. ;

Kellis, Manolis ;

Gingeras, Thomas R. ;

Davis, Carrie A. ;

Kapranov, Philipp ;

Dobin, Alexander ;

Zaleski, Christopher ;

Schlesinger, Felix ;

Batut, Philippe ;

Chakrabortty, Sudipto ;

Jha, Sonali ;

Lin, Wei ;

Drenkow, Jorg ;

Wang, Huaien ;

Bell, Kim ;

Gao, Hui ;

Bell, Ian ;

Dumais, Erica ;

Dumais, Jacqueline ;

Antonarakis, Stylianos E. ;

Ucla, Catherine ;

Borel, Christelle ;

Guigo, Roderic ;

Djebali, Sarah .

PLOS BIOLOGY, 2011, 9 (04)

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