Epigenetic profiling identifies novel genes for ascending aortic aneurysm formation with bicuspid aortic valves

Heart Surgery Forum

Volumn 18, Issue 4, 2015, Pages E134-E139

  Shah, Asad A ^a,b   Gregory, Simon G ^b   Krupp, Deidre ^b   Feng, Sheng ^b   Dorogi, Allison ^b   Haynes, Carol ^b   Grass, Elizabeth ^b   Lin, Shu S ^a   Hauser, Elizabeth R ^b   Kraus, William E ^a,b   Shah, Svati H ^a,b   Hughes, G Chad ^a  

^a DUKE UNIVERSITY MEDICAL CENTER   (United States)

^b DUKE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA SMOOTH MUSCLE ACTIN; NON RECEPTOR PROTEIN TYROSINE PHOSPHATASE 22; TRANSCRIPTION FACTOR GATA 4; TRANSCRIPTION FACTOR TBX5; GENETIC MARKER; PTPN22 PROTEIN, HUMAN;

ADULT; ARTICLE; ASCENDING AORTA; BICUSPID AORTIC VALVE; CLINICAL ARTICLE; CONTROLLED STUDY; DNA METHYLATION; EPIGENETICS; FEMALE; GENE EXPRESSION PROFILING; HUMAN; HUMAN TISSUE; MALE; MIDDLE AGED; PRIORITY JOURNAL; THORACIC AORTA ANEURYSM; THORACIC AORTA SURGERY; TRICUSPID VALVE; ABNORMALITIES; AORTA; AORTA VALVE; AORTIC ANEURYSM, THORACIC; COMORBIDITY; GENETIC MARKER; GENETIC PREDISPOSITION; GENETICS; HEART VALVE DISEASES; INCIDENCE; NORTH CAROLINA; RISK FACTOR; SINGLE NUCLEOTIDE POLYMORPHISM;

AORTA; AORTIC ANEURYSM, THORACIC; AORTIC VALVE; COMORBIDITY; FEMALE; GENE EXPRESSION PROFILING; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; HEART VALVE DISEASES; HUMANS; INCIDENCE; MALE; MIDDLE AGED; NORTH CAROLINA; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN TYROSINE PHOSPHATASE, NON-RECEPTOR TYPE 22; RISK FACTORS;

EID: 84941135833     PISSN: 10983511     EISSN: 15226662     Source Type: Journal    
DOI: 10.1532/hsf.1247     Document Type: Article

References (22)

1. Akhtar-Zaidi B, Cowper-Sal-lari R, Corradin O, et al. 2012. Epigenomic enhancer profiling defines a signature of colon cancer. Science 336:736-9.
2. Baccarelli A1, Rienstra M, Benjamin EJ. 2010. Cardiovascular epigenetics: basic concepts and results from animal and human studies. Circ Cardiovasc Genet 3:567-73.
3. Brock MV, Hooker CM, Emi Ota-Machida, et al. 2008. DNA methylation markers and early recurrence in stage I lung cancer. N Engl J Med 358:1118-28.
4. Burn GL, Svensson L, Sanchez-Blanco C, Saini M, Cope AP. 2011. Why is PTPN22 a good candidate susceptibility gene for autoimmune disease? FEBS Lett 585:3689-98.
5. Cripe L, Andelfinger G, Martin LJ, Shooner K, Benson DW. 2004. Bicuspid aortic valve is heritable. J Am Coll Cardiol 44:138-43.
6. Duprez L, Bertrand MJ, Vanden Berghe T, Dondelinger Y, Festjens N, Vandenabeele P. 2012. Intermediate domain of receptor-interacting protein kinase 1 (RIPK1) determines switch between necroptosis and RIPK1 kinase-dependent apoptosis. J Biol Chem 287:14863-72.
7. Fan JB, Yeakley JM, Bibikova M, et al. 2004. A versatile assay for highthroughput gene expression profiling on universal array matrices. Genome Res 14:878-85.
8. Gilsbach R, Preissl S, Grüning BA, et al. 2014. Dynamic DNA methylation orchestrates cardiomyocyte development, maturation and disease. Nat Commun 5:5288.
9. Guo H, Zhu P, Yan L, et al. 2014. The DNA methylation landscape of human early embryos. Nature 511:606-10.
10. Guo DC, Pannu H, Tran-Fadulu V, et al. 2007. Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections. Nat Genet 39:1488-93.
11. He R, Guo DC, Sun W, et al. 2008. Characterization of the inflammatory cells in ascending thoracic aortic aneurysms in patients with Marfan syndrome, familial thoracic aortic aneurysms, and sporadic aneurysms. J Thorac Cardiovasc Surg 136:922-9.
12. Hiratzka LF, Bakris GL, Beckman JA, et al. 2010. ACCF/AHA/AATS/ ACR/ASA/SCA/SCAI/SIR/STS/SVM guidelines for the diagnosis and management of patients with Thoracic Aortic Disease: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines, American Association for Thoracic Surgery, American College of Radiology, American Stroke Association, Society of Cardiovascular Anesthesiologists, Society for Cardiovascular Angiography and Interventions, Society of Interventional Radiology, Society of Thoracic Surgeons, and Society for Vascular Medicine. Circulation 121:e266-369.
13. Hsu RM, Tsai MH, Hsieh YJ, Lyu PC, Yu JS. 2010. Identification of MYO18A as a novel interacting partner of the PAK2/betaPIX/GIT1 complex and its potential function in modulating epithelial cell migration. Mol Biol Cell 21:287-301.
14. Phillippi JA, Klyachko EA, Kenny JP 4th, Eskay MA, Gorman RC, Gleason TG. 2009. Basal and oxidative stress-induced expression of metallothionein is decreased in ascending aortic aneurysms of bicuspid aortic valve patients. Circulation 119:2498-506.
15. Prakash SK, Bossé Y, Muehlschlegel J, et al. 2014. A roadmap to investigate the genetic basis of bicuspid aortic valve and its complications: insights from the International BAVCon (Bicuspid Aortic Valve Consortium). J Am Coll Cardiol 64:832-9.
16. Puig-Vilanova E, Aguiló R, Rodríguez-Fuster A, Martínez-Llorens J, Gea J, Barreiro E. 2014. Epigenetic mechanisms in respiratory muscle dysfunction of patients with chronic obstructive pulmonary disease. PLoS One Nov;9:e111514.
17. Sievers HH, Sievers HL. 2011. Aortopathy in bicuspid aortic valve disease -genes or hemodynamics? or Scylla and Charybdis? Eur J Card Surg 39:803-4.
18. Tadros TM, Klein MD, Shapira OM. 2009. Ascending aortic dilatation associated with bicuspid aortic valve: pathophysiology, molecular biology, and clinical implications. Circulation 119:880-90.
19. Wagner KW, Alam H, Dhar SS, et al. 2013. KDM2A promotes lung tumorigenesis by epigenetically enhancing ERK1/2 signaling. J Clin Invest 123:5231-46.
20. Xin M, Davis CA, Molkentin JD, et al. 2006. A threshold of GATA4 and GATA6 expression is required for cardiovascular development. Proc Natl Acad Sci USA 103:11189-94.
21. Zaidi S, Choi M, Wakimoto H, et al. 2013. De novo mutations in histone-modifying genes in congenital heart disease. Nature 498:220-3.
22. Zhang J, Zahir N, Jiang Q, et al. 2011. The autoimmune disease-associated PTPN22 variant promotes calpain-mediated Lyp/Pep degradation associated with lymphocyte and dendritic cell hyperresponsiveness. Nat Genet 43:902-7.