A functional polymorphism of the Gαq (GNAQ) gene is associated with accelerated mortality in African-American heart failure

Human Molecular Genetics

Volumn 16, Issue 22, 2007, Pages 2740-2750

  Liggett, Stephen B ^a   Kelly, Reagan J ^b   Parekh, Rohan R ^c   Matkovich, Scot J ^c   Benner, Bonnie J ^c   Hahn, Harvey S ^c   Syed, Faisal M ^c   Galvez, Anita S ^c   Case, Karen L ^c   Mcguire, Nancy ^c   Odley, Amy M ^c   Sparks, Li ^c   Kardia, Sharon L R ^b   Dorn II, Gerald W ^c  

^a UNIVERSITY OF MARYLAND SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF MICHIGAN   (United States)

^c UNIVERSITY OF CINCINNATI   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GUANINE NUCLEOTIDE BINDING PROTEIN ALPHA SUBUNIT; PROTEIN GNAQ; UNCLASSIFIED DRUG; EARLY GROWTH RESPONSE FACTOR 1; EGR1 PROTEIN, HUMAN; STIMULATORY GUANINE NUCLEOTIDE BINDING PROTEIN;

ADULT; AFRICAN AMERICAN; AGED; AMINO ACID SUBSTITUTION; ANIMAL CELL; ARTICLE; BINDING AFFINITY; BIOINFORMATICS; CONTROLLED STUDY; DNA FLANKING REGION; FEMALE; GEL MOBILITY SHIFT ASSAY; GENE FREQUENCY; GENE FUNCTION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC CODE; GENETIC IDENTIFICATION; GENETIC POLYMORPHISM; GENETIC TRANSCRIPTION; GENOTYPE; HEART FAILURE; HEART GRAFT; HETEROZYGOTE; HOMOZYGOTE; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MALE; MORTALITY; NEWBORN; NONHUMAN; NUCLEIC ACID BASE SUBSTITUTION; PATHOPHYSIOLOGY; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN BINDING; PROTEIN MOTIF; RAT; SURVIVAL TIME; ADOLESCENT; ANIMAL; BINDING SITE; CASE CONTROL STUDY; COMPARATIVE STUDY; GC RICH SEQUENCE; GENE EXPRESSION REGULATION; GENETICS; MIDDLE AGED; SURVIVAL RATE;

RATTUS;

ADOLESCENT; ADULT; AFRICAN AMERICANS; AGED; AGED, 80 AND OVER; ANIMALS; BINDING SITES; CASE-CONTROL STUDIES; EARLY GROWTH RESPONSE PROTEIN 1; ELECTROPHORETIC MOBILITY SHIFT ASSAY; FEMALE; GC RICH SEQUENCE; GENE EXPRESSION REGULATION; GENE FREQUENCY; GTP-BINDING PROTEIN ALPHA SUBUNITS, GS; HEART FAILURE; HUMANS; MALE; MIDDLE AGED; POLYMORPHISM, GENETIC; PROMOTER REGIONS (GENETICS); RATS; SURVIVAL RATE; TRANSCRIPTION, GENETIC;

EID: 35548930743     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddm229     Document Type: Article

References (38)

1. Hunt, S.A., Abraham, W.T., Chin, M.H., Feldman, A.M., Francis, G.S., Ganiats, T.G., Jessup, M., Konstam, M.A., Mancini, D.M., Michl, K. et al. (2005) ACC/AHA 2005 Guideline Update for the Diagnosis and Management of Chronic Heart Failure in the Adult: A report of the American College Cardiology/American Heart Association Task Force on Practice Guidelines (Writing Committee to Update the 2001 Guidelines for the Evaluation and Management of Heart Failure): Developed in collaboration with the American College of Chest Physicians and the International Society for Heart and Lung Transplantation: Endorsed by the Heart Rhythm Society. Circulation, 112, e154-e235.
2. Bleumink, G.S., Schut, A.F., Sturkenboom, M.C., Deckers, J.W., van Duijn, C.M. and Stricker, B.H. (2004) Genetic polymorphisms and heart failure. Genet. Med., 6, 465-474.
3. Liggett, S.B. (2004) Polymorphisms of beta-adrenergic receptors in heart failure. Am. J. Med., 117, 525-527.
4. Dorn, G.W. and Brown, J.H. (1999) Gq signaling in cardiac adaptation and maladaptation. Trends Cardiovasc. Med., 9, 26-34.
5. D'Angelo, D.D., Sakata, Y., Lorenz, J.N., Boivin, G.P., Walsh, R.A., Liggett, S.B. and Dorn, G.W. (1997) Transgenic Galphaq overexpression induces cardiac contractile failure in mice. Proc. Natl Acad. Sci. USA, 94, 8121-8126.
6. Adams, J.W., Sakata, Y., Davis, M.G., Sah, V.P., Wang, Y., Liggett, S.B., Chien, K.R., Brown, J.H. and Dorn, G.W. (1998) Enhanced Galphaq signaling: A common pathway mediates cardiac hypertrophy and apoptotic heart failure. Proc. Natl Acad. Sci. USA, 95, 10140-10145.
7. Sakata, Y., Hoit, B.D., Liggett, S.B., Walsh, R.A. and Dorn, G.W. (1998) Decompensation of pressure-overload hypertrophy in G alpha q-overexpressing mice. Circulation, 97, 1488-1495.
8. Dorn, G.W., Tepe, N.M., Lorenz, J.N., Koch, W.J. and Liggett, S.B. (1999) Low- and high-level transgenic expression of beta2-adrenergic receptors differentially affect cardiac hypertrophy and function in Galphaq-overexpressing mice. Proc. Natl Acad. Sci. USA, 96, 6400-6405.
9. Mende, U., Kagen, A., Cohen, A., Aramburu, J., Schoen, F.J. and Neer, E.J. (1998) Transient cardiac expression of constitutively active Galphaq leads to hypertrophy and dilated cardiomyopathy by calcineurin-dependent and independent pathways. Proc. Nad Acad Sci. USA, 95, 13893-13898.
10. Wettschureck, N., Ruften, H., Zywietz, A., Gehring, D., Wilkie, T.M., Chen, J., Chien, K.R. and Offermanns, S. (2001) Absence of pressure overload induced myocardial hypertrophy after conditional inactivation of Galphaq/Galpha11 in cardiomyocytes. Nat. Med., 7, 1236-1240.
11. Kina, T., Ikuta, K., Takayama, E., Wada, K., Majumdar, A.S., Weissman, I.L. and Katsura, Y. (2000) The monoclonal antibody TER-119 recognizes a molecule associated with glycophorin A and specifically marks the late stages of murine erythroid lineage. Br. J. Haematol., 109, 280-287.
12. Esposito, G., Rapacciuolo, A., Naga Prasad, S.V., Takaoka, H., Thomas, S.A., Koch, W.J. and Rockman, H.A. (2002) Genetic alterations that inhibit in vivo pressure-overload hypertrophy prevent cardiac dysfunction despite increased wall stress. Circulation, 105, 85-92.
13. Lynch, R.A., Wagoner, L., Li, S., Sparks, L., Molkentin, J. and Dorn G.W. (2002) Novel and nondetected human signaling protein polymorphisms. Physiol. Genomics, 10, 159-168.
14. Black, A.R., Black, J.D. and Azizkhan-Clifford, J. (2001) Spl and kruppel-like factor family of transcription factors in cell growth regulation and cancer. J. Cell Physiol., 188, 143-160.
15. Thiel, G. and Cibelli, G. (2002) Regulation of life and death by the zinc finger transcription factor Egr-I. J. Cell Physiol., 193 287-292.
16. Rayet, B. and Gelinas, C. (1999) Aberrant rel/nfkb genes and'activity in hilman cancer. Oncogene, 18, 6938-6947.
17. Syed, F., Odley, A., Hahn, H.S., Brunskill, E.W., Lynch, R.A., Marreez, Y., Sanbe, A., Robbins, J. and Dom, G.W. (2004) Physiological growth synergizes with pathological genes in experimental cardiomyopathy. Circ. Res., 95, 1200-1206.
18. Hayakawa, Y., Chandra, M., Miao, W., Shirani, J., Brown, J.H., Dom, G.W., Armstrong, R.C. and Kitsis, R.N. (2003) Inhibition of cardige myocyte apoptosis improves cardiac function and abolishes mortality in the peripartum cardiomyopathy of Galpha(q) transgenic mice. Circulation, 108, 3036-3041.
19. Cowburn, P.J., Cleland, J.G., Coats, AJ. and Komajda, M. (1998) Risk stratifleation in chronic heart failure. Eur. Heart J., 19, 696-710.
20. Pulignano, G., Del Sindaco, D., Tavazzi, L., Lucci, D., Gorini, M., Leggio, F., Porcu, M., Scherillo, M., Opasich, C., Di Lenarda, A., Senni, M. and Maggioni, A.P. (2002) Clinical features and outcomes of elderly outpatients with heart failure followed up in hospital cardiology units: Data from a large nationwide cardiology database (IN-CBF Registry). Am. Heart J., 143, 45-55.
21. Kalantar-Zadeh, K., Block, G., Horwich, T. and Fonarow, G.C. (2004) Reverse epidemiology of conventional cardiovascular risk factors in patients with chronic heart failure. J. Am. Coll. Cardiol., 43 1439-1444.
22. Franz, W.M., Muller, O.J. and Katus, H.A. (2001) Cardiomyopathies: From genetics to the prospect of treatment. Lancet, 358, 1627-1637.
23. Morita, H., Seidman, J. and Seidman, C.E. (2005) Genetic causes of human heart failure. J. Clin. Invest., 115, 518-526.
24. Karban, A.S., Okazaki, T., Panhuysen, C.I., Gallegos, T., Potter, J.J., Bailey-Wilson, J.E., Silverberg, M.S., Duerr, R.H., Cho, J.H., Gregersen, P.K. et al. (2004) Functional annotation of a novel NFKB1 promoter polymorphism that increases risk for ulcerative colitis. Hum. Mol. Genet., 13, 35-45.
25. Takahashi, N., Akahoshi, M., Matsuda, A., Ebe, K., Inomata, N., Obara, K., Hirota, T., Nakashima, K., Shimizu, M., Tamari, M. et al. (2005) Association of the IL12RB1 promoter polymorphisms with increased risk of atopic dermatitis and other allergic phenotypes. Hum. Mol. Genet., 14, 3149-3159.
26. Yuan, H.Y., Chen, J.J., Lee, M.T., Wung, J.C., Chen, Y.F., Chamg, MJ., Lu, M.J., Hung, C.R., Wei, C.Y., Chen, C.H., Wu, J.Y. and Chen, Y.T. (2005) A novel functional VKORCI promoter polymorphism is associated with inter-individual and inter-ethnic differences in warfarin sensitivity. Hum. Mol. Genet., 14, 1745-1751.
27. Packer, M. (1992) The neuohormonal hypothesis a theory to explain the mechanism of disease progression in heart, failure. J. Am. Coll. Cardiol., 20, 248-254.
28. Gheorghiade, M., De Luca, L. and Bonow, R.O. (2005), Neurohormonal inhibition in heart failure: Insights from recent clinical trials. Am. J. Cardiol., 96, 3L-9L.
29. Akbter, S.A., Luttrell, L.M., Rockman, H.A., Iaccarino, G., Lefkowitz, R.J. and Koch, W.J. (1998) Targeting the receptor-Gq interface to inhibit in vivo pressure overload myocardial hypertrophy. Science, 280, 574-577.
30. Wamhoff, B.R., Hoofnagle, M.H., Bums, A., Sinha, S.f McDonald, O.G. and Owens, G.K. (2004) A G/C element mediates repression of the SM22alpha promoter within phenotypically modulated smooth muscle cells in experimental atherosclerosis. Circ. Res., 95, 981-988.
31. Huang, R.P., Fan, V., Ni, Z., Mercola, D. and Adamson, E.D. (1997) Reciprocal modulation between Sp1 and Egr-1. J. Cell Biochem., 66, 489-499.
32. Zhang, X. and Liu, Y. (2003) Suppression of HGF receptor gene expression by oxidative stress is mediated through the interplay between Spl and Egr-l. Am. J. Physiol. Renal Physiol., 294, F1216-FI225.
33. Foppa, M., Duncan, B.B. and Rohde, L.E. (2O05) Echocardiography-based left ventricular mass estimation. How should we define hypertrophy? Cardiovasc. Ultrasound, 3, 17.
34. Galvez, A.S., Brunskill, E.W., Marreez, Y., Benner, B.J., Repula, K.M., Kirschenbaum, L.A. and Dom, G.W. (2006) Distinct pathways regulate proapoptotic Nix and BNip3 in cardiac stress. J. Biol. Chem., 281, 1442-1448.
35. Kaplan, E.L. and Meier, P. (2006) Nonparametric estimation ftom incomplete observations. J. Am. Stat. Assoc., 53, 457-481.
36. Parmar, M. and Machin, D. (1995) Survival Analysis: A practical approach, John Wiley & Sons.
37. Stephens, M. and Donnelly, P. (2003) A comparison of bayesian methods for haplotype reconstruction from populatiod genotype data. An J Hum. Genet., 73, 1162-1169.
38. R Develpoment Core Team (2005) R:A language and environment for statistical computing. (2.3.0), R foundation for statistical computing.